FB2025_01 , released February 20, 2025
Allele: Dmel\Nlg2R598C.UAS
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General Information
Symbol
Dmel\Nlg2R598C.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0343869
Feature type
allele
Associated gene
Dmel\Nlg2
Associated Insertion(s)
Carried in Construct
PBac{UAS-Nlg2.R598C}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Tu et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Tu et al., 2017)
Mutagen
in vitro construct
(Tu et al., 2017)
Progenitor genotype
Carried in construct
PBac{UAS-Nlg2.R598C}
Cytology
Description

UASt regulates expression of full length Nlg2 cDNA bearing a R598C mutation, which is homologous to the the autism-associated R451C mutation in human NLG3.

(Tu et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Nlg2
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:6,903,729..6,903,731 [+]
Nucleotide change:

CGA6903729TGC

Amino acid change:

R598C | Nlg2-PA; R598C | Nlg2-PB; R598C | Nlg2-PC

Reported amino acid change:

R598C

Comment:

Analogous R451C mutation in human NLG3 implicated in autism spectrum disorder; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Tu et al., 2017)
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 ( 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.
      (Tu et al., 2017)
      NLGN3:p.Arg471Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      NLGN3:p.Arg431Cys
      NLGN3:p.Arg451Cys
      Associated human disease model(s)
      External database links
      ClinVar: NLGN3_11327
      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\GAL4da.PU/Nlg2R598C.UAS fails to rescue Nlg2KO70

      (Tu et al., 2017)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Nlg2R598C.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)