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General Information
Symbol
Dmel\PrpsR228W
Species
D. melanogaster
Name
FlyBase ID
FBal0353116
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Mutagen
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

CGC9684800TGG

Amino acid change:

R228W | Prps-PA; R266W | Prps-PB; R232W | Prps-PC; R251W | Prps-PD; R247W | Prps-PF; R251W | Prps-PG; R228W | Prps-PH; R251W | Prps-PI; R232W | Prps-PJ

Reported amino acid change:

R228W

Comment:

Analogous mutation in human PRPS1 implicated in Arts syndrome.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: R228W.

R228W is a mutation identified from Arts syndrome patients. Prps transcript levels are not largely affected.

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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

PrpsR228W mutants have no discernable developmental defects, developmental timing is unaffected and adult wing and eye size are normal, compared to controls; climbing ability of young and old PrpsR228W adults is significantly reduced, compared to controls; under starvation conditions, PrpsR228W and PrpsR228W/Df(3L)BSC576 adults have significantly shorter survival than controls and, unlike controls, PrpsR228W mutant fat body lipid droplets do not decrease in size; unlike controls, PrpsR228W pupae also accumulate lipid droplets in their eye discs; PrpsR228W and PrpsR228W/Df(3L)BSC576 have significantly reduced autophagy and lysosomes in the adult fat body, compared to controls, in the case of PrpsR228W/Df(3L)BSC576, this phenotype is also seen in the larval fat body; PrpsR228W adults have significantly reduced survival when treated with chloroquine (lysosome inhibitor) or oxidative agents (paraquat or hydrogen peroxide), compared to controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Suppressor of
Statement
Reference
Phenotype Manifest In
Suppressor of
Statement
Reference
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
PrpsR228W
Name Synonyms
Secondary FlyBase IDs
    References (2)