FB2026_02 , released June 18, 2026
Allele: Dmel\Irk2L291V
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General Information
Symbol
Dmel\Irk2L291V
Species
D. melanogaster
Name
FlyBase ID
FBal0406507
Feature type
allele
Associated gene
Dmel\Irk2
Associated Insertion(s)
TI{TI}Irk2L291V
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Li et al., 2024)
Progenitor genotype
Associated Insertion(s)
TI{TI}Irk2L291V
Cytology
Description

The human disease-relevant L291V mutation is knocked into endogenous Irk2.

(Li et al., 2024)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:23,514,812..23,514,812 [-]
Nucleotide change:

T23514812G

Amino acid change:

L291V | Irk2-PA; L275V | Irk2-PB; L275V | Irk2-PC; L291V | Irk2-PD

Reported amino acid change:

L291V

Comment:

Analogous mutation in human KCNJ10 implicated in episodic kinesigenic dyskinesia, SGIP1-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Li et al., 2024)
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  EAST syndrome
      CEA
      (Li et al., 2024)
      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.
      (Li et al., 2024)
      KCNJ10:p.Leu217Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      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
      Comments
      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
      Irk2 L291V
      (Li et al., 2024)
      Irk2L291V
      Name Synonyms
      Secondary FlyBase IDs
        References (2)