FlyBase Allele Report: Dmel\Nrd1[R540X]

General Information

Symbol

Dmel\Nrd1^R540X

Species

D. melanogaster

Name

FlyBase ID

FBal0324997

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

(Yoon et al., 2017)

Progenitor genotype

Cytology

Description

Amino acid replacement: R540term.

(Yoon et al., 2017)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:11,867,063..11,867,063 [-]

Nucleotide change:

A11867063T

Amino acid change:

R540term | Nrd1-PA

Reported amino acid change:

R540term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase curator 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 ( 1 )

Disease

Interaction

References

model of neurodegenerative disease

is ameliorated by Atg1^UAS.cUa

(Yoon et al., 2017)

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^Q376X)

(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

retina | adult stage | somatic clone

(Yoon et al., 2017)

Detailed Description

Statement

Reference

Adult flies with Nrd1^R540X mutant retinal somatic clones show age-progressive loss of synaptic transmission in photoreceptor cells characterized by loss of on- and off-transients in electroretinogram readings compared to wild-type controls.

Nrd1^R540X mutant larvae do not show any significant decrease in the mitochondria copy number 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^R540X has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by Atg1^UAS.cUa/Scer\GAL4^ey.PU

(Yoon et al., 2017)

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

(Yoon et al., 2017)

Nrd1^W369X/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^R540X/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)

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^R540X 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)

Nrd1^W369X/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^R540X/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)

Phenotype Manifest In

Suppressed by

Statement

Reference

Nrd1^R540X has retina | somatic clone | adult stage phenotype, suppressible | partially by Atg1^UAS.cUa/Scer\GAL4^ey.PU

(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^R540X mutant retinal somatic clones is partially suppressed by expression of Atg1^Scer\UAS.cUa controlled by the Scer\GAL4^ey.PU driver.

(Yoon et al., 2017)

Xenogenetic Interactions

Statement

Reference

The pupal lethality of the Nrd1^R540X 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)