Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03049:Atp6v0a2'

408994

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v0a2

Ensembl Gene

ENSMUSG00000038023

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A2

Synonyms

Tj6, ATP6a2, Atp6n2, 8430408C20Rik, V-ATPase a2, TJ6s

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL03049

Quality Score

Status

Chromosome

Chromosomal Location

124767117-124801519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124789845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 424 (F424L)

Ref Sequence

ENSEMBL: ENSMUSP00000039737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037865] [ENSMUST00000198382]

AlphaFold

P15920

PDB Structure

NMR solution structure of peptide a2N(1-17) from Mus musculus V-ATPase [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037865
AA Change: F424L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: F424L

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	842	3.3e-299	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197087

Predicted Effect

probably benign
Transcript: ENSMUST00000198382

SMART Domains

Protein: ENSMUSP00000143284
Gene: ENSMUSG00000038023

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:V_ATPase_I	26	178	1.5e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199526

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a subunit of vacuolar ATPase, a multimeric enzyme that localizes to intracellular vesicles and to the plasma membrane of specialized cells. The encoded protein is a component of the V(0) domain, which functions in proton translocation across membranes. Function of this gene is important in fetal-specific immune suppression during pregnancy. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef19	A	G	4: 140,981,627 (GRCm39)	H645R	probably damaging	Het
Asic5	A	G	3: 81,904,256 (GRCm39)		probably benign	Het
Clca4a	A	T	3: 144,676,516 (GRCm39)		probably benign	Het
Eif3k	A	G	7: 28,670,858 (GRCm39)	S178P	possibly damaging	Het
Elp2	C	T	18: 24,764,516 (GRCm39)	T621I	probably benign	Het
Exoc3l4	T	C	12: 111,389,835 (GRCm39)	S137P	probably damaging	Het
Gm14393	C	A	2: 174,903,581 (GRCm39)	G109C	probably damaging	Het
Gp2	A	G	7: 119,049,517 (GRCm39)	V340A	possibly damaging	Het
Hic2	A	G	16: 17,075,800 (GRCm39)	S210G	probably benign	Het
Lcn3	T	A	2: 25,655,586 (GRCm39)	M1K	probably null	Het
Ldlr	A	G	9: 21,657,115 (GRCm39)	E692G	probably benign	Het
Ly75	T	C	2: 60,182,414 (GRCm39)	N587S	probably damaging	Het
Msh2	T	C	17: 88,015,937 (GRCm39)	F523S	probably damaging	Het
Mtmr4	T	A	11: 87,505,060 (GRCm39)	I1185N	probably damaging	Het
Ncoa6	T	A	2: 155,260,934 (GRCm39)	K519N	probably damaging	Het
Or4c103	C	T	2: 88,513,834 (GRCm39)	V81M	possibly damaging	Het
Or52z14	A	T	7: 103,253,298 (GRCm39)	I146F	probably damaging	Het
Or7c70	T	A	10: 78,683,356 (GRCm39)	H131L	possibly damaging	Het
Ppp1r13b	T	C	12: 111,799,663 (GRCm39)	T705A	probably benign	Het
Ripor1	A	G	8: 106,342,079 (GRCm39)	D119G	probably damaging	Het
Scn10a	A	G	9: 119,495,056 (GRCm39)	V395A	probably damaging	Het
Slc18b1	T	C	10: 23,698,844 (GRCm39)	V338A	probably benign	Het
Usp10	A	G	8: 120,683,366 (GRCm39)	T746A	probably benign	Het

Other mutations in Atp6v0a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp6v0a2	APN	5	124,798,841 (GRCm39)	missense	probably benign	0.19
IGL01310:Atp6v0a2	APN	5	124,783,968 (GRCm39)	missense	probably damaging	1.00
IGL01944:Atp6v0a2	APN	5	124,774,043 (GRCm39)	missense	probably benign	0.04
IGL02044:Atp6v0a2	APN	5	124,783,954 (GRCm39)	missense	probably benign	0.00
IGL02400:Atp6v0a2	APN	5	124,798,849 (GRCm39)	missense	probably benign
IGL02650:Atp6v0a2	APN	5	124,789,426 (GRCm39)	splice site	probably benign
IGL02687:Atp6v0a2	APN	5	124,791,206 (GRCm39)	missense	possibly damaging	0.67
IGL02965:Atp6v0a2	APN	5	124,767,267 (GRCm39)	missense	possibly damaging	0.85
IGL03088:Atp6v0a2	APN	5	124,791,171 (GRCm39)	splice site	probably benign
IGL03198:Atp6v0a2	APN	5	124,789,425 (GRCm39)	critical splice donor site	probably null
alkaline	UTSW	5	124,796,930 (GRCm39)	missense	probably damaging	1.00
basic	UTSW	5	124,789,392 (GRCm39)	nonsense	probably null
electronegative	UTSW	5	124,784,638 (GRCm39)	missense	probably damaging	1.00
energizer	UTSW	5	124,797,050 (GRCm39)	missense	probably damaging	0.98
Everready	UTSW	5	124,779,443 (GRCm39)	missense	probably damaging	0.99
Lithium	UTSW	5	124,791,209 (GRCm39)	missense	probably damaging	1.00
R0128:Atp6v0a2	UTSW	5	124,790,248 (GRCm39)	missense	probably damaging	1.00
R0594:Atp6v0a2	UTSW	5	124,795,046 (GRCm39)	missense	probably benign	0.01
R1540:Atp6v0a2	UTSW	5	124,784,638 (GRCm39)	missense	probably damaging	1.00
R2136:Atp6v0a2	UTSW	5	124,795,552 (GRCm39)	missense	possibly damaging	0.78
R2921:Atp6v0a2	UTSW	5	124,794,981 (GRCm39)	missense	possibly damaging	0.80
R2922:Atp6v0a2	UTSW	5	124,794,981 (GRCm39)	missense	possibly damaging	0.80
R2923:Atp6v0a2	UTSW	5	124,794,981 (GRCm39)	missense	possibly damaging	0.80
R3055:Atp6v0a2	UTSW	5	124,765,209 (GRCm39)	unclassified	probably benign
R3889:Atp6v0a2	UTSW	5	124,777,203 (GRCm39)	missense	probably damaging	1.00
R3893:Atp6v0a2	UTSW	5	124,777,203 (GRCm39)	missense	probably damaging	1.00
R4013:Atp6v0a2	UTSW	5	124,789,860 (GRCm39)	missense	probably damaging	1.00
R4490:Atp6v0a2	UTSW	5	124,784,674 (GRCm39)	missense	probably damaging	1.00
R4791:Atp6v0a2	UTSW	5	124,784,667 (GRCm39)	missense	probably benign	0.17
R5219:Atp6v0a2	UTSW	5	124,790,249 (GRCm39)	missense	probably damaging	1.00
R5247:Atp6v0a2	UTSW	5	124,790,241 (GRCm39)	missense	probably damaging	1.00
R5293:Atp6v0a2	UTSW	5	124,784,649 (GRCm39)	missense	probably benign	0.00
R5620:Atp6v0a2	UTSW	5	124,783,909 (GRCm39)	nonsense	probably null
R5830:Atp6v0a2	UTSW	5	124,779,485 (GRCm39)	missense	probably damaging	1.00
R5875:Atp6v0a2	UTSW	5	124,793,391 (GRCm39)	missense	probably benign
R5903:Atp6v0a2	UTSW	5	124,789,343 (GRCm39)	missense	probably damaging	1.00
R6192:Atp6v0a2	UTSW	5	124,767,268 (GRCm39)	missense	probably benign	0.01
R6425:Atp6v0a2	UTSW	5	124,790,194 (GRCm39)	missense	probably damaging	1.00
R6752:Atp6v0a2	UTSW	5	124,779,452 (GRCm39)	missense	probably damaging	1.00
R6919:Atp6v0a2	UTSW	5	124,789,225 (GRCm39)	splice site	probably null
R6994:Atp6v0a2	UTSW	5	124,791,209 (GRCm39)	missense	probably damaging	1.00
R7053:Atp6v0a2	UTSW	5	124,783,923 (GRCm39)	missense	probably damaging	1.00
R7268:Atp6v0a2	UTSW	5	124,796,930 (GRCm39)	missense	probably damaging	1.00
R7342:Atp6v0a2	UTSW	5	124,784,676 (GRCm39)	missense	probably damaging	1.00
R7349:Atp6v0a2	UTSW	5	124,789,392 (GRCm39)	nonsense	probably null
R7714:Atp6v0a2	UTSW	5	124,775,533 (GRCm39)	missense	probably damaging	1.00
R7715:Atp6v0a2	UTSW	5	124,791,262 (GRCm39)	missense	probably damaging	0.99
R7748:Atp6v0a2	UTSW	5	124,793,560 (GRCm39)	missense	probably benign	0.00
R7775:Atp6v0a2	UTSW	5	124,779,443 (GRCm39)	missense	probably damaging	0.99
R7778:Atp6v0a2	UTSW	5	124,779,443 (GRCm39)	missense	probably damaging	0.99
R7824:Atp6v0a2	UTSW	5	124,779,443 (GRCm39)	missense	probably damaging	0.99
R7833:Atp6v0a2	UTSW	5	124,782,969 (GRCm39)	missense	probably damaging	1.00
R7901:Atp6v0a2	UTSW	5	124,779,485 (GRCm39)	missense	probably damaging	1.00
R7977:Atp6v0a2	UTSW	5	124,797,050 (GRCm39)	missense	probably damaging	0.98
R7987:Atp6v0a2	UTSW	5	124,797,050 (GRCm39)	missense	probably damaging	0.98
R8118:Atp6v0a2	UTSW	5	124,789,837 (GRCm39)	missense	probably damaging	0.98
R8728:Atp6v0a2	UTSW	5	124,796,152 (GRCm39)	missense	probably benign	0.00
R8765:Atp6v0a2	UTSW	5	124,793,534 (GRCm39)	missense	probably damaging	1.00
R8945:Atp6v0a2	UTSW	5	124,784,589 (GRCm39)	missense	probably damaging	1.00
R8971:Atp6v0a2	UTSW	5	124,797,061 (GRCm39)	missense	probably damaging	1.00
R9023:Atp6v0a2	UTSW	5	124,796,138 (GRCm39)	missense	possibly damaging	0.93
R9300:Atp6v0a2	UTSW	5	124,789,312 (GRCm39)	missense	probably damaging	0.98
R9360:Atp6v0a2	UTSW	5	124,767,259 (GRCm39)	missense	possibly damaging	0.77
R9601:Atp6v0a2	UTSW	5	124,790,257 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02