FB2021_02, released April 13, 2021

Allele: Dmel\OcrlH469R.UAS.GFP

Open Close
General Information
Symbol
Dmel\OcrlH469R.UAS.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0336687
Feature type
allele
Associated gene
Dmel\Ocrl
Associated Insertion(s)
Carried in Construct
P{UAS-Ocrl.H469R.GFP}
Key Links
Genomic Maps
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
in vitro construct - regulatory fusion
(Del Signore et al., 2017)
in vitro construct - coding region fusion
(Del Signore et al., 2017)
in vitro construct - amino acid replacement
(Del Signore et al., 2017)
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point_mutation
X:1,925,832..1,925,832 [+]
Nucleotide change:

A1925832G

Reported nucleotide change:

A>G

Amino acid change:

H469R | Ocrl-PA; H469R | Ocrl-PB

Reported amino acid change:

H469R

Comment:

Analogous mutation in human OCRL implicated in Lowe oculocerebrorenal syndrome; mutation carried on in vitro construct.

(Del Signore et al., 2017)
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
       
      Progenitor genotype
      Carried in construct
      P{UAS-Ocrl.H469R.GFP}
      Cytology
      Nature of the lesion
      Statement
      Reference

      UAS regulatory sequences drive expression of a phosphatase-inactive form of Ocrl (carries the mutation H469R). This lesion is equivalent to a mutation associated with Lowe Syndrome in the human ortholog. The protein is tagged with GFP.

      (Del Signore et al., 2017)
      Allele components
      Product class / Tool use(s)
      Regulatory region(s)
      UAS
      Encoded product / tool
      Ocrl
      Tagged with
      GFP
      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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Del Signore et al., 2017)
      OCRL:p.His524Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      OCRL:p.His525Arg
      Associated human disease model(s)
      External database links
      ClinVar: OCRL_68719
      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
      Fails to rescue

      Scer\GAL4He.PZ/OcrlH469R.UAS.GFP fails to rescue OcrlΔ3

      (Del Signore et al., 2017)
      Comments

      The dramatic increase in the number of circulating hemocytes observed in OcrlΔ3 mutant larvae cannot be rescued by Scer\GAL4He.PZ-driven expression of OcrlH469R.Scer\UAS.T:Avic\GFP.

      (Del Signore et al., 2017)
      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
      OcrlH469R.Scer\UAS.T:Avic\GFP
      OcrlH469R.UAS.GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)