FlyBase Allele Report: Dmel\Lrrk[G1914S.UAS]

General Information

Symbol

Dmel\Lrrk^G1914S.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0282481

Feature type

allele

Associated gene

Dmel\Lrrk

Associated Insertion(s)

Carried in Construct

P{UAS-Lrrk.G1914S}

Also Known As

UAS-Lrrk^G1914S

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Dodson et al., 2012)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Dodson et al., 2012)

Mutagen

in vitro construct

(Dodson et al., 2012)

Progenitor genotype

Carried in construct

P{UAS-Lrrk.G1914S}

Cytology

Description

UAS regulatory sequences drive expression of a mutant form of Lrrk which contains the amino acid replacement G1914S (equivalent to the pathogenic G2019S mutation seen in the human Hsap\LRRK2 gene).

(Dodson et al., 2012)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Lrrk

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:20,642,363..20,642,365 [+]

Reported amino acid change:

G1914S

Comment:

G1914S mutation relative to Lrrk-RB. Mutation in analogous codon in human LRRK implicated in Parkinson disease 8; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Dodson et al., 2012)

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 Parkinson's disease 8

CEA

(Sarkar et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^R406W.UAS

(Bardai et al., 2018)

exacerbates Parkinson's disease 1

modeled by Hsap\SNCA^QUAS.cOa

(Sarkar et al., 2021)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Dodson et al., 2012)

LRRK2:p.Gly2019Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Parkinson disease 8

External database links

ClinVar: LRRK2_1940

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

lysosome, with Scer\GAL4^CY2

(Dodson et al., 2014, Dodson et al., 2012)

Detailed Description

Statement

Reference

Expression of Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 results in perinuclear lysosome clustering.

(Dodson et al., 2014)

Expression of Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 results in a 65% increase in perinuclear lysosome clustering in the follicle cells compared to controls.

(Dodson et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Scer\GAL4^nSyb.PP/Lrrk^G1914S.UAS is an enhancer of abnormal locomotor behavior | adult stage phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Scer\GAL4^nSyb.PP/Lrrk^G1914S.UAS is an enhancer of decreased cell number | adult stage phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Phenotype Manifest In

Suppressed by

Statement

Reference

Lrrk^G1914S.UAS, Scer\GAL4^CY2 has lysosome phenotype, suppressible by Rab7^{T22N.UASp.YFP}, Scer\GAL4^CY2

(Dodson et al., 2012)

Lrrk^G1914S.UAS, Scer\GAL4^CY2 has lysosome phenotype, suppressible by Dhc64C[+]/Dhc64C^6-10

(Dodson et al., 2012)

Enhancer of

Statement

Reference

Scer\GAL4^nSyb.PP/Lrrk^G1914S.UAS is an enhancer of outer medulla | adult stage phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Scer\GAL4^nSyb.PP/Lrrk^G1914S.UAS is an enhancer of medulla intrinsic columnar neuron | adult stage | decreased number phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Scer\GAL4^nSyb.PP/Lrrk^G1914S.UAS is an enhancer of dopaminergic medulla neuron | adult stage | decreased number phenotype of Hsap\SNCA^QUAS.cOa, Ncra\QF^QF2.nSyb

(Sarkar et al., 2021)

Additional Comments

Genetic Interactions

Statement

Reference

Co-expression of Rab7^{Q67L.Scer\UAS.P\T.T:Avic\GFP-YFP} and Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 results in a degree of lysosome clustering in the follicle cells that is identical to that caused by expression of Lrrk^{G1914S.Scer\UAS} alone under the control of Scer\GAL4^CY2.

The increased clustering of lysosomes which is seen in the follicle cells of females expressing Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 is significantly suppressed by co-expression of Rab7^{T22N.Scer\UAS.P\T.T:Avic\GFP-YFP}.

The increased clustering of lysosomes which is seen in the follicle cells of females expressing Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 is significantly suppressed by Dhc64C^6-10/+, and the average cluster size is reduced.

(Dodson et al., 2012)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescues

Scer\GAL4^CY2/Lrrk^G1914S.UAS rescues Lrrk²/Lrrk¹

(Dodson et al., 2014)

Scer\GAL4^CY2/Lrrk^G1914S.UAS rescues Df(3R)BSC141/Lrrk^e03680

(Dodson et al., 2012)

Partially rescues

Scer\GAL4^CY2/Lrrk^G1914S.UAS partially rescues Lrrk^unspecified

(Dodson et al., 2014)

Comments

Expression of Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 rescues the semi-sterility phenotype of Lrrk¹/Lrrk² mutants.

Expression of Lrrk^{G1914S.Scer\UAS} under the control of Scer\GAL4^CY2 partially rescues the enlarged-lysosome phenotype of Lrrk mutants.

(Dodson et al., 2014)

Expression of Lrrk^Scer\UAS.cDa under the control of Scer\GAL4^CY2 fully rescues the reduced fertility of Lrrk^e03680/Df(3R)BSC141 females.

(Dodson et al., 2012)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Lrrk^{G1914S.Scer\UAS}

Lrrk^G1914S.UAS

lrrk^GS

(Dodson et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

Open Close