FlyBase Allele Report: Dmel\Lrpprc2[A]

General Information

Symbol

Dmel\Lrpprc2^A

Species

D. melanogaster

Name

FlyBase ID

FBal0319260

Feature type

allele

Associated gene

Dmel\Lrpprc2

Associated Insertion(s)

Carried in Construct

Also Known As

ppr^A

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Graves et al., 2020, Jaiswal et al., 2015)

Progenitor genotype

Cytology

Description

Amino acid replacement: W151term.

(Graves et al., 2020, Jaiswal et al., 2015)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:1,460,107..1,460,107 [-]

Nucleotide change:

G1460107A

Amino acid change:

W151term | Lrpprc2-PA

Reported amino acid change:

W151term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Jaiswal et al., 2015)

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 Leigh disease

CEA

(Jaiswal et al., 2015)

model of French Canadian Leigh disease

CEA

(Cheramangalam et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Leigh disease

is ameliorated by Vps35^UAS.Tag:HA

(Jaiswal et al., 2015)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | adult stage | progressive | somatic clone | conditional

(Jaiswal et al., 2015)

abnormal neurophysiology | adult stage | somatic clone

(Jaiswal et al., 2015)

abnormal neurophysiology | adult stage | somatic clone | conditional

(Jaiswal et al., 2015)

lethal - all die before end of pupal stage

(Jaiswal et al., 2015)

Phenotype Manifest In

Detailed Description

Statement

Reference

Lrpprc2^A/Lrpprc2^A full eye mutant clones show age-dependent defects in electroretinograms (ERGs): 5 week old flies show a dramatic reduction in ERG amplitude and loss of on and off transients; this phenotype is light-dependent (no ERG change in dark conditions). Unlike controls, exposure of mutants to constant light for 1 week significantly reduces ERG amplitude. Retinas of controls, young (2-3 day old) Lrpprc2^A/Lrpprc2^A flies or Lrpprc2^A/Lrpprc2^A flies raised in dark conditions for three weeks show similar morphological features, whereas 3 week old Lrpprc2^A/Lrpprc2^A mutants raised in light/dark conditions show photoreceptor degeneration of rhabdomeres R1-R6 (but not R7 or R8). Lrpprc2^A/Lrpprc2^A clones show rapid run-down of ERG amplitude and on/off transients in response to repetitive pulses of light and show (slower) recovery of the light response upon rest (compared to controls showing modest run-down and quicker recovery). Lrpprc2^A/Lrpprc2^A mutants raised on normal food in constant light display an ERG amplitude around 20% of controls, while mutants raised on vitamin A-deficient food show an ERG amplitude around 60% of controls; photoreceptors of mutant flies that are deprived of vitamin A are also indistinguishable from controls.

(Jaiswal et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Lrpprc2^A has abnormal neurophysiology | somatic clone | adult stage | conditional phenotype, suppressible | partially by Scer\GAL4^ninaE.PU/Vps35^UAS.Tag:HA

(Jaiswal et al., 2015)

NOT suppressed by

Statement

Reference

Lrpprc2^A has abnormal neurophysiology | somatic clone | adult stage | conditional phenotype, non-suppressible by Scer\GAL4^ninaE.PU/Hsap\SOD1^UAS.cPa

(Jaiswal et al., 2015)

Other

Statement

Reference

Lrpprc2^A, bsf^SH1181 has lethal - all die during embryonic stage phenotype

(Jaiswal et al., 2015)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Vps35^{Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^ninaE.PU significantly partially suppresses decreases in ERG amplitude seen in 7 day old Lrpprc2^A/Lrpprc2^A flies raised under constant light conditions.

Lrpprc2^A/y;bsf^SH1181/bsf^SH1181 double mutants die as embryos (compared to Lrpprc2^A/Y or bsf^SH1181/bsf^SH1181 mutants showing pupal lethality).

(Jaiswal et al., 2015)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\SOD1^Scer\UAS.cPa driven by Scer\GAL4^ninaE.PU does not suppress ERG amplitude in Lrpprc2^A/Lrpprc2^A mutants (7 days old under constant light conditions).

(Jaiswal et al., 2015)

Complementation and Rescue Data

Rescued by

Lrpprc2^A is rescued by Lrpprc2^{+tCH322-75O21}

(Jaiswal et al., 2015)

Lrpprc2^A is rescued by Lrpprc2^+t5

(Jaiswal et al., 2015)

Lrpprc2^A is rescued by Lrpprc2^EGFP

(Jaiswal et al., 2015)

Comments

Lrpprc2^{+tCH322-75O21} or Lrpprc2^+t5 or Lrpprc2^{T:Avic\GFP-EGFP} rescues the early pupal lethality and Lrpprc2^{+tCH322-75O21} rescues the reduction in electroretinograms amplitude and photoreceptor degeneration seen in aged Lrpprc2^A/Lrpprc2^A flies.

(Jaiswal et al., 2015)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

67166

y¹ Lrpprc2^A w^* P{neoFRT}19A/FM7c, P{GAL4-Kr.C}DC1, P{UAS-GFP.S65T}DC5, sn⁺

67168

y¹ Lrpprc2^A w^* P{neoFRT}19A/FM7c, P{GAL4-Kr.C}DC1, P{UAS-GFP.S65T}DC5, sn⁺; PBac{Lrpprc2.+5}VK00037

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Lrpprc2^A

(Graves et al., 2020)

XE26A

(Graves et al., 2020)

XFSY017

(Graves et al., 2020)

lrpprc2^A

(Cheramangalam et al., 2023)

ppr^A

(Cheramangalam et al., 2023, Jaiswal et al., 2015)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

Open Close