Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02687:Atp6v0a2'

303608

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: 0.125) question?

Stock #

IGL02687

Quality Score

Status

Chromosome

Chromosomal Location

124767117-124801519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124791206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 545 (T545M)

Ref Sequence

ENSEMBL: ENSMUSP00000039737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037865] [ENSMUST00000197161] [ENSMUST00000198382]

AlphaFold

P15920

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037865
AA Change: T545M

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: T545M

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: ENSMUST00000197161

SMART Domains

Protein: ENSMUSP00000143461
Gene: ENSMUSG00000038023

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,005,058 (GRCm39)	V1315A	probably damaging	Het
Adam2	A	T	14: 66,306,639 (GRCm39)	C117S	probably damaging	Het
Arpp21	T	A	9: 111,894,883 (GRCm39)	R792*	probably null	Het
Atp13a3	A	G	16: 30,156,369 (GRCm39)	M938T	probably damaging	Het
BC051019	T	C	7: 109,315,559 (GRCm39)	D84G	possibly damaging	Het
Bdkrb1	T	A	12: 105,571,091 (GRCm39)	L219H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap46	T	C	7: 139,187,117 (GRCm39)	D2415G	probably damaging	Het
Csgalnact2	T	C	6: 118,101,376 (GRCm39)		probably null	Het
Cyp4a29	T	C	4: 115,108,397 (GRCm39)	C374R	probably damaging	Het
Dgkb	C	A	12: 38,680,628 (GRCm39)	P776Q	possibly damaging	Het
Duox1	A	T	2: 122,166,896 (GRCm39)	K1005M	probably damaging	Het
Dusp6	C	A	10: 99,102,044 (GRCm39)	F343L	probably damaging	Het
Espl1	C	T	15: 102,221,613 (GRCm39)		probably benign	Het
Filip1l	T	C	16: 57,391,490 (GRCm39)	S455P	probably benign	Het
Gm7995	A	G	14: 42,133,362 (GRCm39)	I81V	probably damaging	Het
Lingo4	T	C	3: 94,309,404 (GRCm39)	L114P	probably damaging	Het
Mfsd6	A	G	1: 52,747,834 (GRCm39)	S344P	probably damaging	Het
Mpc1	G	A	17: 8,515,975 (GRCm39)	S162N	probably benign	Het
Myh11	T	A	16: 14,030,482 (GRCm39)	K1143*	probably null	Het
Nek10	T	C	14: 14,840,570 (GRCm38)	L152P	probably damaging	Het
Or52ab7	C	T	7: 102,978,607 (GRCm39)	R305*	probably null	Het
Or5ak25	T	A	2: 85,268,930 (GRCm39)	N191Y	possibly damaging	Het
Or6c217	T	C	10: 129,737,971 (GRCm39)	M203V	probably benign	Het
Rab11a	A	G	9: 64,633,980 (GRCm39)	I119T	probably damaging	Het
Spata31d1d	T	A	13: 59,875,678 (GRCm39)	H619L	possibly damaging	Het
Ulk4	A	T	9: 121,021,728 (GRCm39)	V661E	possibly damaging	Het
Vmn1r199	T	C	13: 22,566,961 (GRCm39)	V85A	possibly damaging	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
IGL02965:Atp6v0a2	APN	5	124,767,267 (GRCm39)	missense	possibly damaging	0.85
IGL03049:Atp6v0a2	APN	5	124,789,845 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16