Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02965:Atp6v0a2'

365554

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

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL02965

Quality Score

Status

Chromosome

Chromosomal Location

124628576-124724455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124629202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 10 (M10K)

Ref Sequence

ENSEMBL: ENSMUSP00000143284 (fasta)

Gene Model

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

AlphaFold

P15920

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037865
AA Change: M10K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: M10K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100706

SMART Domains

Protein: ENSMUSP00000098272
Gene: ENSMUSG00000029386

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:DUF1619	171	442	6.8e-75	PFAM
low complexity region	669	681	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130912

SMART Domains

Protein: ENSMUSP00000114298
Gene: ENSMUSG00000029386

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:DUF1619	171	442	1.5e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197931

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198382
AA Change: M10K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143284
Gene: ENSMUSG00000038023
AA Change: M10K

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: ENSMUST00000200292

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,180,613	K1471R	probably benign	Het
Add1	A	G	5: 34,620,123	S77G	probably damaging	Het
Atm	G	T	9: 53,453,563	N2642K	probably damaging	Het
Btd	T	A	14: 31,667,236	S305T	probably damaging	Het
Cmya5	C	T	13: 93,092,557	V2008I	probably benign	Het
Cpd	T	G	11: 76,790,988		probably benign	Het
Dis3l	A	G	9: 64,310,484	F772L	probably damaging	Het
Dlg5	A	T	14: 24,172,023	I517N	probably damaging	Het
Fig4	G	A	10: 41,285,665	T34M	probably damaging	Het
Flna	C	T	X: 74,227,210	V2235I	probably damaging	Het
Flot2	T	C	11: 78,059,205	I371T	possibly damaging	Het
Fsip2	G	A	2: 82,983,054	S3239N	probably benign	Het
Gbp3	A	G	3: 142,567,582	I297V	probably benign	Het
Gcnt3	T	C	9: 70,034,953	E111G	probably benign	Het
Gdi1	G	T	X: 74,307,725	A148S	probably benign	Het
Heatr5b	G	A	17: 78,753,073	H2058Y	probably benign	Het
Hsp90aa1	A	G	12: 110,695,679	M1T	probably null	Het
Iltifb	A	G	10: 118,294,857	S45P	probably damaging	Het
Inppl1	C	A	7: 101,828,271	V715F	possibly damaging	Het
Kansl1	T	C	11: 104,335,165	Y975C	probably damaging	Het
Kif18b	A	G	11: 102,916,512		probably benign	Het
Krt40	T	A	11: 99,541,666	R175W	probably damaging	Het
Map3k19	T	C	1: 127,824,066	D516G	probably damaging	Het
Mfsd3	A	G	15: 76,703,152	H345R	probably benign	Het
Mlkl	A	T	8: 111,331,837	I162N	probably benign	Het
Mtnr1a	A	T	8: 45,069,382	N58I	probably damaging	Het
Nsmf	T	C	2: 25,061,762	V499A	probably damaging	Het
Nudt6	A	G	3: 37,419,506	L22P	probably damaging	Het
Nxf7	T	G	X: 135,589,410	E35A	probably damaging	Het
Olfr748	A	C	14: 50,711,196	I289L	probably damaging	Het
Paf1	T	C	7: 28,396,204		probably null	Het
Pcdhb11	G	T	18: 37,423,968	V784L	probably benign	Het
Pglyrp2	T	C	17: 32,418,586	D156G	probably benign	Het
Pnpt1	A	G	11: 29,156,939	D670G	probably damaging	Het
Polr1b	T	A	2: 129,125,523	H945Q	probably benign	Het
Ptk6	C	T	2: 181,199,068		probably benign	Het
Rftn1	C	T	17: 50,055,252	E273K	probably benign	Het
Rnf125	A	G	18: 20,983,111	I117V	probably benign	Het
Robo4	A	G	9: 37,410,469	K742R	possibly damaging	Het
Sez6l	T	C	5: 112,475,574	E37G	probably damaging	Het
Skint4	A	T	4: 112,136,021	I306L	probably benign	Het
Sntb1	A	T	15: 55,642,685	Y497*	probably null	Het
Snx27	C	A	3: 94,582,426	V42L	probably damaging	Het
Sorbs1	T	A	19: 40,376,743	T199S	probably benign	Het
Sorcs2	A	G	5: 36,077,957	Y72H	probably benign	Het
Spef2	G	T	15: 9,725,106		probably benign	Het
Sucla2	G	T	14: 73,579,431	V204L	probably benign	Het
Tescl	C	A	7: 24,333,673	V76F	probably damaging	Het
Tnxb	T	A	17: 34,709,654	Y2681N	possibly damaging	Het
Usp42	T	C	5: 143,728,014	T2A	probably damaging	Het
Vdac3-ps1	T	A	13: 18,030,846		noncoding transcript	Het
Wapl	T	A	14: 34,739,224		probably benign	Het

Other mutations in Atp6v0a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp6v0a2	APN	5	124721777	missense	probably benign	0.19
IGL01310:Atp6v0a2	APN	5	124646028	missense	probably damaging	1.00
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
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

2015-12-18