FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Pkd2D627V.t1kb
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General Information
Symbol
Dmel\Pkd2D627V.t1kb
Species
D. melanogaster
Name
FlyBase ID
FBal0260948
Feature type
allele
Associated gene
Dmel\Pkd2
Associated Insertion(s)
Carried in Construct
P{Pkd2D627V.t1kb}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Köttgen et al., 2011)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Köttgen et al., 2011)
Mutagen
in vitro construct
(Köttgen et al., 2011)
Progenitor genotype
Carried in construct
P{Pkd2D627V.t1kb}
Cytology
Description

P{Pkd2D627V.t1kb} is composed of approximately 1kb of 5' flanking region and the genomic region of Pkd2 containing the amino acid residue mutation D627V.

(Köttgen et al., 2011)

Amino acid replacement: D627V.

(Köttgen et al., 2011)
Allele components
Component
Use(s)
Regulatory region(s)
Pkd2
Encoded product / tool
Pkd2
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:12,400,444..12,400,444 [+]
Nucleotide change:

A12400444T

Amino acid change:

D627V | Pkd2-PA

Reported amino acid change:

D627V

Comment:

Analogous mutation in human PKD2 implicated in polycystic kidney disease 2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Köttgen et al., 2011)
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 )
      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.
      (Köttgen et al., 2011)
      PKD2:p.Asp511Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: PKD2_13524
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      Rescues

      Pkd2D627V.t1kb/Pkd2+t1kb rescues Pkd21

      (Köttgen et al., 2011)
      Partially rescues

      Pkd2D627V.t1kb partially rescues Pkd21

      (Hofherr et al., 2016)
      Fails to rescue

      Pkd2D627V.t1kb fails to rescue Pkd21

      (Köttgen et al., 2011)
      Comments

      The almost complete male sterility observed in Pkd21/Pkd21 mutants is very slightly but significantly improved by combination with Pkd2D627V.t1kb.

      (Hofherr et al., 2016)

      The presence of Pkd2D627V.t1kb is unable to rescue the sperm storage phenotype found in females mated with Pkd21 mutant males.

      Pkd21 mutant male sterility can be rescued upon expression of both Pkd2+t1kb and Pkd2D627V.t1kb.

      (Köttgen et al., 2011)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Pkd2D627V.t1kb
      Name Synonyms
      Secondary FlyBase IDs
        References (3)