FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Vps35D647N.UAS
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General Information
Symbol
Dmel\Vps35D647N.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0335423
Feature type
allele
Associated gene
Dmel\Vps35
Associated Insertion(s)
Carried in Construct
P{UAS-Vps35.D647N}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Inoshita et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Inoshita et al., 2017)
Mutagen
in vitro construct
(Inoshita et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-Vps35.D647N}
Cytology
Description

UAS regulatory sequences drive expression of Vps35 cDNA with an amino acid replacement (D647N, corresponding to the pathogenic D620N human mutation).

(Inoshita et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Vps35
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:22,188,624..22,188,624 [+]
Nucleotide change:

G22188624A

Amino acid change:

D628N | Vps35-PA; D647N | Vps35-PB

Reported amino acid change:

D647N

Comment:

Analogous D620N mutation in human VPS35 implicated in Parkinson disease 17; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Inoshita 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 ( 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)
       
      This allele represents a human variant implicated in disease.
      (Inoshita et al., 2017)
      VPS35:p.Asp620Asn
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: VPS35_30196
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Vps35D647N.Scer\UAS under the control of Scer\GAL4da.G32 in a Vps351/Vps35MH20 transheterozygous background does not affect the number of active zones in third instar larval neuromuscular junction boutons, as compared to controls.

      (Inoshita et al., 2017)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Partially rescues

      Vps35D647N.UAS/Scer\GAL4da.G32 partially rescues Vps35MH20/Vps351

      (Inoshita et al., 2017)
      Comments

      The expression of Vps35D647N.Scer\UAS under the control of Scer\GAL4da.G32 fails to rescue the prepupal lethality of Vps351/Vps35MH20 transheterozygotes.

      In the third instar larval neuromuscular junction of Vps351/Vps35MH20 transheterozygotes, the expression of Vps35D647N.Scer\UAS under the control of Scer\GAL4da.G32 rescues the decreased size of synaptic boutons, but not their increased number, the decreased pool of synaptic vesicles, the decreased endocytosis and the subtle ultrastructural defects of the subsynaptic reticulum; the expression of Vps35D647N.Scer\UAS, under the control of either Scer\GAL4da.G32, Scer\GAL4Toll-6-D42 or Scer\GAL4Mhc.PK, fails to rescue the increased miniature excitatory junction potential amplitude and the decreased excitatory junction potential amplitude under high stimulation conditions.

      The expression of Vps35D647N.Scer\UAS under the control of Scer\GAL4ple.PF rescues the decreased sleep bouts displayed by Vps351 heterozygous adults and even leads to a significant increase in sleep bouts, as compared to wild-type controls.

      In Vps35MH20 heterozygotes, the expression of Vps35D647N.Scer\UAS under the control of Scer\GAL4ple.PF fails to rescue the decreased spontaneous synaptic activity of adult dendritic arborizing neurons; the expression of Vps35D647N.Scer\UAS under the control of Scer\GAL4da.G32 also fails to rescue the decreased adult lifespan and the increased number of type Ib synaptic boutons at the third instar larval neuromuscular junction.

      (Inoshita et al., 2017)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Vps35D647N.Scer\UAS
      Vps35D647N.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)