FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\CAPZA2R259L.UAS
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General Information
Symbol
Hsap\CAPZA2R259L.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0361044
Feature type
allele
Associated gene
Hsap\CAPZA2
Associated Insertion(s)
Carried in Construct
PBac{UAS-hCAPZA2.R259L}
Key Links
Transgenic product class
missense_variant
(Celniker and Bellen, 2017-)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Celniker and Bellen, 2017-)
Mutagen
in vitro construct
(Celniker and Bellen, 2017-)
Progenitor genotype
Carried in construct
PBac{UAS-hCAPZA2.R259L}
Cytology
Description

UASt regulatory sequences drive expression of the Hsap\CAPZA2 open reading frame. The endogenous stop codon is present, thus even though three copies of the Tag:HA tag are present downstream of the ORF, they are not expected to form part of the translated protein. The ORF (originally amplified from the IOH7253 clone) has been mutated to carry p.R259L (chr7: 116557836 G>T), a disease-associated variant associated. The human ORF is flanked by a pair of incompatible FRT sites (FRT5 and FRT2), which allows for future in vivo exchange of either the promoter or tag sequence.

(Celniker and Bellen, 2017-)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\CAPZA2
Also carries
FRT2
FRT5
loxP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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  developmental disorder of mental health
      CEA
      (Huang 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.
      (Huang et al., 2020, Celniker and Bellen, 2017-)
      CAPZA2:p.Arg259Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 830216
      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

      Expression of Hsap\CAPZA2R259L.UAS.Tag:HA under the control of Scer\GAL4αTub84B.PL in cpa107E/cpa69E background leads to severe notum bristle defects (bending, branching, shortening, missing bristles as well as multiple defects of single bristle) in adults and disrupted F-actin organization in notum bristles at pupal stage when compared to controls.

      Expression of Hsap\CAPZA2R259L.UAS.Tag:HA under the control of Scer\GAL4αTub84B.PL in cpa107E/+ or cpa69E/+ background leads to defects in notum bristles when compared to controls.

      (Huang et al., 2020)
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\CAPZA2R259L.UAS.Tag:HA
      Hsap\CAPZA2R259L.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)