FlyBase Allele Report: Dmel\Nrd1[Q376X]

General Information

Symbol

Dmel\Nrd1^Q376X

Species

D. melanogaster

Name

FlyBase ID

FBal0325131

Feature type

allele

Associated gene

Dmel\Nrd1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Yoon et al., 2017)

Mutagen

ethyl methanesulfonate

(Graves et al., 2020, Yoon et al., 2017, Yamamoto et al., 2013-)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q376term.

(Graves et al., 2020, Yoon et al., 2017, Yamamoto et al., 2013-)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:11,867,555..11,867,555 [-]

Nucleotide change:

C11867555T

Amino acid change:

Q376term | Nrd1-PA

Reported amino acid change:

Q376term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Yoon et al., 2017)

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 ( 1 )

Disease

Evidence

References

model of neurodegenerative disease

CEA

(Yoon et al., 2017)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

A neurodegenerative disorder has been ascribed to a loss of function mutation of Nrd1 in a patient. Mutations in two known disease-related genes have also been identified in this patient but those have either been reported as benign or their known clinical symptoms do not match the phenotype of the patient.

(Yoon et al., 2017)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | adult stage | somatic clone

(Yoon et al., 2017)

lethal - all die during pupal stage (with Nrd1^K134X)

(Yoon et al., 2017)

lethal - all die during pupal stage (with Nrd1^R540X)

(Yoon et al., 2017)

lethal - all die during pupal stage (with Nrd1^W369X)

(Yoon et al., 2017)

lethal - all die during pupal stage | recessive

(Yoon et al., 2017)

Phenotype Manifest In

photoreceptor | adult stage | somatic clone

(Yoon et al., 2017)

retina | adult stage | somatic clone

(Yoon et al., 2017)

Detailed Description

Statement

Reference

Adult flies with Nrd1^Q376X mutant retinal somatic clones show age-progressive loss of synaptic transmission in photoreceptor cells (characterized by loss of on- and off-transients and decreased amplitude of electroretinogram readings compared to wild-type controls) as well as progressive morphological defects and photoreceptor loss.

Nrd1^Q376X mutant larvae do not show any significant decrease in the mitochondria copy number or in the mitochondrial membrane potential relative to controls.

(Yoon et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Nrd1^Q376X/Nrd1^R540X has lethal - all die during pupal stage phenotype, suppressible by Hsap\NRDC^UAS.Tag:V5/Scer\GAL4^da.G32

(Yoon et al., 2017)

Nrd1^Q376X/Nrd1^W369X has lethal - all die during pupal stage phenotype, suppressible by Hsap\NRDC^UAS.Tag:V5/Scer\GAL4^da.G32

(Yoon et al., 2017)

Nrd1^Q376X/Nrd1^K134X has lethal - all die during pupal stage phenotype, suppressible by Hsap\NRDC^UAS.Tag:V5/Scer\GAL4^da.G32

(Yoon et al., 2017)

Nrd1^Q376X has lethal - all die during pupal stage | recessive phenotype, suppressible by Hsap\NRDC^UAS.Tag:V5/Scer\GAL4^da.G32

(Yoon et al., 2017)

NOT suppressed by

Statement

Reference

Nrd1^Q376X/Nrd1^R540X has lethal - all die during pupal stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\NRDC^{M636Vstop.UAS.Tag:V5}

(Yoon et al., 2017)

Nrd1^Q376X/Nrd1^W369X has lethal - all die during pupal stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\NRDC^{M636Vstop.UAS.Tag:V5}

(Yoon et al., 2017)

Nrd1^Q376X/Nrd1^K134X has lethal - all die during pupal stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\NRDC^{M636Vstop.UAS.Tag:V5}

(Yoon et al., 2017)

Nrd1^Q376X has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Scer\GAL4^ninaE.PU/S6k^KQ.UAS

(Yoon et al., 2017)

Nrd1^Q376X has lethal - all die during pupal stage | recessive phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\NRDC^{M636Vstop.UAS.Tag:V5}

(Yoon et al., 2017)

Phenotype Manifest In

NOT suppressed by

Statement

Reference

Nrd1^Q376X has retina | somatic clone | adult stage phenotype, non-suppressible by Scer\GAL4^ninaE.PU/S6k^KQ.UAS

(Yoon et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

The loss of synaptic transmission in photoreceptor cells (characterized by loss of on- and off-transients in electroretinogram readings) observed in aged adult flies with Nrd1^Q376X mutant retinal somatic clones is partially suppressed by expression of S6k^KQ.Scer\UAS controlled by the Scer\GAL4^ninaE.PU driver.

(Yoon et al., 2017)

Xenogenetic Interactions

Statement

Reference

The pupal lethality of the Nrd1^Q376X mutants can be rescued by expression of Hsap\NRDC^{Scer\UAS.T:SV5\V5} but not Hsap\NRDC^{M636Vstop.Scer\UAS.T:SV5\V5} under the control of Scer\GAL4^da.G32 in the mutant background.

(Yoon et al., 2017)

Complementation and Rescue Data

Fails to complement

Nrd1^W369X

(Yoon et al., 2017)

Nrd1^K134X

(Yoon et al., 2017)

Nrd1^R540X

(Yoon et al., 2017)

Rescued by

Nrd1^Q376X is rescued by Nrd1^+t5

(Yoon et al., 2017)

Nrd1^Q376X is rescued by Nrd1^{+tCH322-77E05}

(Yoon et al., 2017)

Nrd1^Q376X is rescued by Nrd1^UAS.Tag:V5/Scer\GAL4^da.G32

(Yoon et al., 2017)

Not rescued by

Nrd1^Q376X is not rescued by Nrd1^UAS.mCherry/Scer\GAL4^da.G32

(Yoon et al., 2017)

Comments

The pupal lethality of the Nrd1^Q376X mutants can be rescued by combination with any of the following :Nrd1^+t5, Nrd1^{+tCH322-77E05} or Dp(1;3)DC245 or by expression of Nrd1^{Scer\UAS.T:SV5\V5} (but not Nrd1^{Scer\UAS.T:Disc\RFP-mCherry}) under the control of Scer\GAL4^da.G32 in the mutant background.

Nrd1^+t5 also rescues the age-dependent loss of synaptic transmission in photoreceptor cells in adult flies carrying Nrd1^Q376X somatic clones in the retina.

(Yoon et al., 2017)

Rescued by: Dp(1;3)DC245.

(Yamamoto et al., 2013-)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

57077

y¹ w^* Nrd1^Q376X P{neoFRT}19A/FM7c, P{GAL4-Kr.C}DC1, P{UAS-GFP.S65T}DC5, sn⁺

77500

y¹ w^* Nrd1^Q376X P{neoFRT}19A/FM7c, P{GAL4-Kr.C}DC1, P{UAS-GFP.S65T}DC5, sn⁺; PBac{UAS-hNRDC.M636Vstop.V5}VK00033

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

CG2025^B

(Yamamoto et al., 2013-)

Nrd1^A

(Yoon et al., 2017)

Nrd1^Q376X

(Graves et al., 2020)

XE54B

(Graves et al., 2020)

XLWL116

(Graves et al., 2020)

dNrd1^A

(Yoon et al., 2017)

Name Synonyms

Secondary FlyBase IDs

FBal0324996
FBal0298886

References (3)

Report Sections

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