FB2025_01 , released February 20, 2025
Allele: Dmel\VangR329H.UAS.Tag:FLAG
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General Information
Symbol
Dmel\VangR329H.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0360180
Feature type
allele
Associated gene
Dmel\Vang
Associated Insertion(s)
Carried in Construct
PBac{UAS-Vang.R329H.Flagx3}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Humphries et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Humphries et al., 2020)
Mutagen
in vitro construct
(Humphries et al., 2020)
Progenitor genotype
Carried in construct
PBac{UAS-Vang.R329H.Flagx3}
Cytology
Description

UASt regulates expression of a mutated form of Vang carrying a mutation equivalent to R274Q in human "VANGL1" and R270H in human "VANGL2", and associated with neural tube defects. The protein is tagged with 3x Tag:FLAG. (FlyBase curator comment: the mutation in the Vang gene is given as R332H in FBrf0245453, however analysis of the release 6.34 annotated gene model indicates the change to be R329H).

(Humphries et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Vang
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:9,104,628..9,104,629 [+]
Nucleotide change:

GG9104628AT

Reported nucleotide change:

CGG>CAT

Amino acid change:

R329H | Vang-PA; R329H | Vang-PB

Reported amino acid change:

R332H

Comment:

Analogous R270H mutation in human VANGL2 implicated in neural tube defects; mutation carried on in vitro construct.

(Humphries et al., 2020)
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  neural tube defect
      CEA
      (Humphries et al., 2020)
      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.
      (Humphries et al., 2020)
      VANGL2:p.Arg270His
      (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
      VangR329H.UAS.Tag:FLAG
      VangR332H.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)