FlyBase Allele Report: Dmel\cpx[1257]

General Information

Symbol

Dmel\cpx¹²⁵⁷

Species

D. melanogaster

Name

FlyBase ID

FBal0290886

Feature type

allele

Associated gene

Dmel\cpx

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Iyer et al., 2013)

Progenitor genotype

Cytology

Description

Nonsense mutation that removes the last C-terminal amino acid (a Q in the X position of the C-terminal CaaX sequence) encoded by an alternative exon (location 3R:123210..124307 , release 5 genome) that is present in most isoforms including cpx-RU (the exon is not present in the cpx-RE isoform).

(Iyer et al., 2013)

Amino acid replacement: Q143term.

(Iyer et al., 2013)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:4,297,556..4,297,556 [+]

Nucleotide change:

C4297556T

Amino acid change:

Reported amino acid change:

Q143term

Comment:

Nonsense mutation in the last codon of most cpx isoforms. This removes the last residue, which is a Q in the C-terminal CaaX motif, thought to be necessary for farnesylation and implicated in membrane targeting in certain mammalian isoforms. Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Iyer et al., 2013)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | larval stage (with cpx^SH1)

(Scholz et al., 2019)

abnormal neuroanatomy | larval stage (with cpx^SH1)

(Scholz et al., 2019)

abnormal neurophysiology | adult stage (with Df(3R)Exel6140)

(Iyer et al., 2013)

abnormal neurophysiology | larval stage (with cpx^SH1)

(Scholz et al., 2019)

abnormal neurophysiology | larval stage (with Df(3R)Exel6140)

(Iyer et al., 2013)

uncoordinated | heat sensitive (with Df(3R)Exel6140)

(Iyer et al., 2013)

Phenotype Manifest In

adult neuromuscular junction (with Df(3R)Exel6140)

(Iyer et al., 2013)

embryonic/larval motor neuron (with cpx^SH1)

(Scholz et al., 2019)

embryonic/larval neuromuscular junction (with cpx^SH1)

(Scholz et al., 2019)

embryonic/larval neuromuscular junction | larval stage (with Df(3R)Exel6140)

(Iyer et al., 2013)

muscle cell of A1-7 ventral longitudinal muscle 3 (with cpx^SH1)

(Scholz et al., 2019)

presynaptic active zone | larval stage (with cpx^SH1)

(Scholz et al., 2019)

synaptic vesicle | larval stage (with cpx^SH1)

(Scholz et al., 2019)

T-bar | larval stage (with cpx^SH1)

(Scholz et al., 2019)

Detailed Description

Statement

Reference

cpx¹²⁵⁷/cpx^SH1, but not cpx¹²⁵⁷/+, larvae have significantly reduced locomotion, compared to controls; transheterozygotes also have significantly reduced numbers of synaptic vesicles around motor neuron T-bars and significantly increased NMJ presynaptic active zone number, but not area, compared to controls; they have significantly increased miniature excitatory postsynaptic currents (minis) and excitatory postsynaptic current (eEPSC) amplitude and decay time constant in muscle 6, compared to controls and paired-pulse depression of eEPSCs is significantly increased, compared to controls.

(Scholz et al., 2019)

cpx¹²⁵⁷/Df(3R)Exel6140 animals show a severe lack of motor coordination at 38[o]C.

The amplitude and waveform of the excitatory postsynaptic current (EPSC) at the dorsal longitudinal muscle neuromuscular synapse is not altered compared to wild type in cpx¹²⁵⁷/Df(3R)Exel6140 adults. However, the mutant adults show an increase in miniature EPSC frequency compared to wild type. The same phenotypes are seen in recordings of cpx¹²⁵⁷/Df(3R)Exel6140 larval neuromuscular junctions.

(Iyer et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ has abnormal locomotor behavior | larval stage phenotype, non-enhanceable by brp⁶⁹/brp^nude

(Scholz et al., 2019)

Suppressed by

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by brp⁶⁹/brp^nude

(Scholz et al., 2019)

NOT suppressed by

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ has abnormal locomotor behavior | larval stage phenotype, non-suppressible by brp⁶⁹/brp^nude

(Scholz et al., 2019)

Enhancer of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is an enhancer of abnormal locomotor behavior | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

NOT Enhancer of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is a non-enhancer of abnormal neuroanatomy | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

Suppressor of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is a suppressor of abnormal neuroanatomy | larval stage phenotype of Scer\GAL4^RapGAP1-OK6, brp^{C-long.UAS.Tag:M(mCd8a),EGFP}

(Scholz et al., 2019)

NOT Suppressor of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is a non-suppressor of abnormal neuroanatomy | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

Other

Statement

Reference

brp⁶⁹, cpx[+]/cpx¹²⁵⁷ has abnormal locomotor behavior | larval stage phenotype

(Scholz et al., 2019)

brp⁶⁹/brp^nude, cpx^SH1/cpx¹²⁵⁷ has abnormal neurophysiology | larval stage phenotype

(Scholz et al., 2019)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ has synaptic vesicle | larval stage phenotype, non-enhanceable by brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ has T-bar | larval stage phenotype, non-enhanceable by brp⁶⁹/brp^nude

(Scholz et al., 2019)

Suppressed by

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ has presynaptic active zone | larval stage phenotype, suppressible by brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ has embryonic/larval motor neuron phenotype, suppressible | partially by brp⁶⁹/brp^nude

(Scholz et al., 2019)

NOT suppressed by

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ has synaptic vesicle | larval stage phenotype, non-suppressible by brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ has T-bar | larval stage phenotype, non-suppressible by brp⁶⁹/brp^nude

(Scholz et al., 2019)

NOT Enhancer of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is a non-enhancer of synaptic vesicle | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a non-enhancer of T-bar | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a non-enhancer of presynaptic active zone | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a non-enhancer of embryonic/larval motor neuron phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

Suppressor of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is a suppressor of embryonic/larval motor neuron phenotype of Scer\GAL4^RapGAP1-OK6, brp^{C-long.UAS.Tag:M(mCd8a),EGFP}

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a suppressor of synaptic vesicle | larval stage phenotype of Scer\GAL4^RapGAP1-OK6, brp^{C-long.UAS.Tag:M(mCd8a),EGFP}

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a suppressor of axon | larval stage phenotype of Scer\GAL4^RapGAP1-OK6, brp^{C-long.UAS.Tag:M(mCd8a),EGFP}

(Scholz et al., 2019)

NOT Suppressor of

Statement

Reference

cpx^SH1/cpx¹²⁵⁷ is a non-suppressor of synaptic vesicle | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a non-suppressor of T-bar | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a non-suppressor of presynaptic active zone | larval stage phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

cpx^SH1/cpx¹²⁵⁷ is a non-suppressor of embryonic/larval motor neuron phenotype of brp⁶⁹/brp^nude

(Scholz et al., 2019)

Other

Statement

Reference

brp⁶⁹/brp^nude, cpx^SH1/cpx¹²⁵⁷ has muscle cell of A1-7 ventral longitudinal muscle 3 phenotype

(Scholz et al., 2019)

brp⁶⁹/brp^nude, cpx^SH1/cpx¹²⁵⁷ has embryonic/larval neuromuscular junction phenotype

(Scholz et al., 2019)

Additional Comments

Genetic Interactions

Statement

Reference

brp⁶⁹/+; cpx¹²⁵⁷/+ double heterozygous larvae have significantly reduced locomotion, compared to controls, unlike either heterozygote alone.

brp^nude/brp⁶⁹; cpx¹²⁵⁷/cpx^SH1 double mutants have suppression of the increased eEPSC amplitude and mini frequency of cpx¹²⁵⁷/cpx^SH1 mutant larval muscle 6 and enhancement of the paired-pulse depression seen in both brp^nude/brp⁶⁹ mutants and cpx¹²⁵⁷/cpx^SH1 mutants.

(Scholz et al., 2019)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

93046

w^*; cpx¹²⁵⁷ e^*/TM3, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

cpx¹²⁵⁷

(Scholz et al., 2019, Choi et al., 2014, Iyer et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (3)

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