Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Atp6v0a2'

73658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v0a2

Ensembl Gene

ENSMUSG00000038023

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A2

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

124628576-124724455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124646028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 272 (D272G)

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: D272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: D272G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197931

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	C	A	6: 50,574,195	V425L	probably benign	Het
4930431F12Rik	A	T	5: 44,967,814		noncoding transcript	Het
Abca12	A	T	1: 71,284,156	I1589N	probably benign	Het
Abca8a	T	G	11: 110,059,975	D888A	probably benign	Het
Adam5	C	T	8: 24,742,134		probably benign	Het
Amer1	A	T	X: 95,427,110	N467K	probably benign	Het
Cacna1b	A	T	2: 24,685,782	N751K	probably damaging	Het
Cfi	T	A	3: 129,858,431	N250K	probably damaging	Het
Cndp2	G	T	18: 84,670,877	P260Q	possibly damaging	Het
Cnnm3	A	G	1: 36,512,875	D322G	probably benign	Het
Crybg1	A	G	10: 44,003,600	S531P	probably damaging	Het
Crybg1	A	T	10: 43,975,058	S1606T	possibly damaging	Het
Espnl	A	T	1: 91,340,611	K320*	probably null	Het
Glt1d1	A	G	5: 127,632,320	T13A	possibly damaging	Het
Gpam	C	T	19: 55,078,332	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,869,742	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,801	I572V	probably damaging	Het
Gtpbp4	A	T	13: 8,977,272	N502K	probably benign	Het
Herpud2	T	C	9: 25,150,951	M6V	probably benign	Het
Igdcc3	T	C	9: 65,178,442	V263A	probably damaging	Het
Il33	G	A	19: 29,952,756	A65T	probably benign	Het
Itga9	T	A	9: 118,769,159	M1K	probably null	Het
Izumo3	T	C	4: 92,146,980		probably benign	Het
Kdr	G	A	5: 75,949,601	P909S	probably damaging	Het
Kirrel	C	T	3: 87,089,875	E262K	probably benign	Het
Krt25	T	A	11: 99,318,170	Q278L	probably benign	Het
Lgi2	G	T	5: 52,554,465	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,699,338	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,317,249	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,059,474		probably null	Het
Nuf2	A	T	1: 169,498,862	V440E	probably benign	Het
Olfr1130	T	A	2: 87,607,508	I40N	possibly damaging	Het
Olfr1306	C	T	2: 111,912,307	V208M	probably benign	Het
Olfr615	C	T	7: 103,560,801	S108F	probably benign	Het
Olfr775	T	C	10: 129,250,996	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,428,610	D75G	probably damaging	Het
Pgm5	A	G	19: 24,834,766	V134A	possibly damaging	Het
Prkch	A	G	12: 73,759,013	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,783,625	E968V	probably benign	Het
Slc25a30	T	C	14: 75,769,597	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,401,345		probably null	Het
Tbc1d14	T	A	5: 36,543,200	K275*	probably null	Het
Tnc	T	C	4: 64,013,077	T799A	probably benign	Het
Trdn	A	T	10: 33,305,098		probably benign	Het
Ttn	T	C	2: 76,876,535		probably benign	Het
Uaca	T	C	9: 60,872,225	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,215,142	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,409,779		probably null	Het
Xpc	T	C	6: 91,490,107	K915E	probably benign	Het
Zfp318	T	C	17: 46,413,227	I2052T	possibly damaging	Het

Other mutations in Atp6v0a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp6v0a2	APN	5	124721777	missense	probably benign	0.19
IGL01944:Atp6v0a2	APN	5	124636105	missense	probably benign	0.04
IGL02044:Atp6v0a2	APN	5	124646014	missense	probably benign	0.00
IGL02400:Atp6v0a2	APN	5	124721785	missense	probably benign
IGL02650:Atp6v0a2	APN	5	124712362	splice site	probably benign
IGL02687:Atp6v0a2	APN	5	124714142	missense	possibly damaging	0.67
IGL02965:Atp6v0a2	APN	5	124629202	missense	possibly damaging	0.85
IGL03049:Atp6v0a2	APN	5	124712781	missense	probably damaging	1.00
IGL03088:Atp6v0a2	APN	5	124714107	splice site	probably benign
IGL03198:Atp6v0a2	APN	5	124712361	critical splice donor site	probably null
alkaline	UTSW	5	124719866	missense	probably damaging	1.00
basic	UTSW	5	124712328	nonsense	probably null
electronegative	UTSW	5	124646698	missense	probably damaging	1.00
energizer	UTSW	5	124719986	missense	probably damaging	0.98
Everready	UTSW	5	124641505	missense	probably damaging	0.99
Lithium	UTSW	5	124714145	missense	probably damaging	1.00
R0128:Atp6v0a2	UTSW	5	124713184	missense	probably damaging	1.00
R0594:Atp6v0a2	UTSW	5	124717982	missense	probably benign	0.01
R1540:Atp6v0a2	UTSW	5	124646698	missense	probably damaging	1.00
R2136:Atp6v0a2	UTSW	5	124718488	missense	possibly damaging	0.78
R2921:Atp6v0a2	UTSW	5	124717917	missense	possibly damaging	0.80
R2922:Atp6v0a2	UTSW	5	124717917	missense	possibly damaging	0.80
R2923:Atp6v0a2	UTSW	5	124717917	missense	possibly damaging	0.80
R3055:Atp6v0a2	UTSW	5	124627144	unclassified	probably benign
R3889:Atp6v0a2	UTSW	5	124639265	missense	probably damaging	1.00
R3893:Atp6v0a2	UTSW	5	124639265	missense	probably damaging	1.00
R4013:Atp6v0a2	UTSW	5	124712796	missense	probably damaging	1.00
R4490:Atp6v0a2	UTSW	5	124646734	missense	probably damaging	1.00
R4791:Atp6v0a2	UTSW	5	124646727	missense	probably benign	0.17
R5219:Atp6v0a2	UTSW	5	124713185	missense	probably damaging	1.00
R5247:Atp6v0a2	UTSW	5	124713177	missense	probably damaging	1.00
R5293:Atp6v0a2	UTSW	5	124646709	missense	probably benign	0.00
R5620:Atp6v0a2	UTSW	5	124645969	nonsense	probably null
R5830:Atp6v0a2	UTSW	5	124641547	missense	probably damaging	1.00
R5875:Atp6v0a2	UTSW	5	124716327	missense	probably benign
R5903:Atp6v0a2	UTSW	5	124712279	missense	probably damaging	1.00
R6192:Atp6v0a2	UTSW	5	124629203	missense	probably benign	0.01
R6425:Atp6v0a2	UTSW	5	124713130	missense	probably damaging	1.00
R6752:Atp6v0a2	UTSW	5	124641514	missense	probably damaging	1.00
R6919:Atp6v0a2	UTSW	5	124712161	splice site	probably null
R6994:Atp6v0a2	UTSW	5	124714145	missense	probably damaging	1.00
R7053:Atp6v0a2	UTSW	5	124645983	missense	probably damaging	1.00
R7268:Atp6v0a2	UTSW	5	124719866	missense	probably damaging	1.00
R7342:Atp6v0a2	UTSW	5	124646736	missense	probably damaging	1.00
R7349:Atp6v0a2	UTSW	5	124712328	nonsense	probably null
R7714:Atp6v0a2	UTSW	5	124637595	missense	probably damaging	1.00
R7715:Atp6v0a2	UTSW	5	124714198	missense	probably damaging	0.99
R7748:Atp6v0a2	UTSW	5	124716496	missense	probably benign	0.00
R7775:Atp6v0a2	UTSW	5	124641505	missense	probably damaging	0.99
R7778:Atp6v0a2	UTSW	5	124641505	missense	probably damaging	0.99
R7824:Atp6v0a2	UTSW	5	124641505	missense	probably damaging	0.99
R7833:Atp6v0a2	UTSW	5	124645031	missense	probably damaging	1.00
R7901:Atp6v0a2	UTSW	5	124641547	missense	probably damaging	1.00
R7977:Atp6v0a2	UTSW	5	124719986	missense	probably damaging	0.98
R7987:Atp6v0a2	UTSW	5	124719986	missense	probably damaging	0.98
R8118:Atp6v0a2	UTSW	5	124712773	missense	probably damaging	0.98
R8728:Atp6v0a2	UTSW	5	124719088	missense	probably benign	0.00
R8765:Atp6v0a2	UTSW	5	124716470	missense	probably damaging	1.00
R8945:Atp6v0a2	UTSW	5	124646649	missense	probably damaging	1.00
R8971:Atp6v0a2	UTSW	5	124719997	missense	probably damaging	1.00
R9023:Atp6v0a2	UTSW	5	124719074	missense	possibly damaging	0.93
R9300:Atp6v0a2	UTSW	5	124712248	missense	probably damaging	0.98
R9360:Atp6v0a2	UTSW	5	124629194	missense	possibly damaging	0.77
R9601:Atp6v0a2	UTSW	5	124713193	missense	probably damaging	1.00

Posted On

2013-10-07