FlyBase Allele Report: Dmel\ATP6AP2[L98S]

General Information

Symbol

Dmel\ATP6AP2^L98S

Species

D. melanogaster

Name

FlyBase ID

FBal0336769

Feature type

allele

Associated gene

Dmel\ATP6AP2

Associated Insertion(s)

Carried in Construct

M{ATP6AP2^L98S}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Rujano et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Rujano et al., 2017)

Mutagen

in vitro construct

(Rujano et al., 2017)

Progenitor genotype

Carried in construct

M{ATP6AP2^L98S}

Cytology

Description

ATP6AP2 bearing a Leu98Ser substitution in the extracellular domain, which is associated with a glycosylation disorder in the human ortholog, is expressed under the control of its own regulatory region.

(Rujano et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

ATP6AP2

Encoded product / tool

ATP6AP2

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:9,261,239..9,261,240 [+]

Nucleotide change:

CT9261239TC

Amino acid change:

L98S | ATP6AP2-PA

Reported amino acid change:

L98S

Comment:

Analogous L98S mutation in human ATP6AP2 implicated in congenital disorder of glycosylation; mutation carried on in vitro construct.

(Rujano 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 ( 1 )

Disease

Evidence

References

model of congenital disorder of glycosylation

CEA with ATP6AP2^Δ1

(Rujano et al., 2017)

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.

(Rujano et al., 2017)

ATP6AP2:p.Leu98Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

congenital disorder of glycosylation, type IIr

External database links

UniProtKB/Swiss-Prot variant: ATP6AP2_VAR_082053

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

abnormal size | adult stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

abnormal size | somatic clone | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

abnormal size | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

increased cell number | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

partially lethal - majority die, with ATP6AP2^Δ1

(Rujano et al., 2017)

short lived, with ATP6AP2^Δ1

(Rujano et al., 2017)

Phenotype Manifest In

adult head, with ATP6AP2^Δ1

(Rujano et al., 2017)

autophagosome | somatic clone | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

embryonic/larval fat body | somatic clone | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

embryonic/larval fat body | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

embryonic/larval optic lobe | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

larval central nervous system | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

larval neuron | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

lipid droplet | somatic clone | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

lipid droplet | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

lysosome | somatic clone | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

neuroblast | third instar larval stage, with ATP6AP2^Δ1

(Rujano et al., 2017)

wing, with ATP6AP2^Δ1

(Rujano et al., 2017)

Detailed Description

Statement

Reference

ATP6AP2^Δ1 homozygotes bearing ATP6AP2^L98S display severe mortality during the pupal stage; the surviving adult display poor mobility, decreased or absent climbing capabilities, blistered wings, and reduced head size and die 3 to 4 days after eclosion, as compared to controls.

ATP6AP2^Δ1 homozygous third instar larvae bearing ATP6AP2^L98S display a severe increases in the number of both optic lobe neuroblasts and of both optic lobe and central brain neurons (during mid-to-late third instar), and display a severe increase in the size of fat body lipid droplets, as compared to controls. In a ATP6AP2^Δ1-homozygous background, ATP6AP2^L98S clones exhibit significant increases in the size of lipid droplets and in the number of autophagosomes/lysosomes (identified as Lysotracker-positive or Atg8a-positive puncta) in the third instar larval fat body, as compared to neighboring ATP6AP2^T:Hsap\MYC clones.

(Rujano et al., 2017)

External Data

Linkouts

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

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

ATP6AP2^L98S

VhaM8.9^L98S

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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