FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Prp8Y2395N.UAS
Open Close
General Information
Symbol
Dmel\Prp8Y2395N.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0361583
Feature type
allele
Associated gene
Dmel\Prp8
Associated Insertion(s)
Carried in Construct
PBac{UAS-Prp8.Y2395N}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Stanković et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Stanković et al., 2020)
Mutagen
in vitro construct
(Stanković et al., 2020)
Progenitor genotype
Carried in construct
PBac{UAS-Prp8.Y2395N}
Cytology
Description

UASt regulatory sequences drive expression of a mutated form of Prp8 that carries a Y2395N amino acid substitution. This change is equivalent to a Y2334N change in the orthologous human PRPF8 gene, a pathogenic variant associated with retinitis pigmentosa.

(Stanković et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Prp8
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:12,154,385..12,154,385 [-]
Nucleotide change:

T12154385A

Amino acid change:

Y2395N | Prp8-PA

Reported amino acid change:

Y2395N

Comment:

Analogous Y2334N mutation in human PRPF8 implicated in Retinitis pigmentosa 13; mutation carried on in vitro construct.

(Stanković 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  retinitis pigmentosa 13
      CEA
      (Stanković 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.
      (Stanković et al., 2020)
      PRPF8:p.Tyr2334Asn
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 865924
      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
      Prp8Y2395N.UAS
      Prp8Y>N
      (Stanković et al., 2020)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)