Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Atp6v0a2'

56101

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a2

Ensembl Gene

ENSMUSG00000038023

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A2

Synonyms

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

MMRRC Submission

038784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R0594 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

124628576-124724455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124717982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 678 (R678S)

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

probably benign
Transcript: ENSMUST00000037865
AA Change: R678S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: R678S

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: ENSMUST00000199356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199971

Meta Mutation Damage Score

0.1569

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,389,880 (GRCm38)	V41A	probably benign	Het
Acad11	A	G	9: 104,095,563 (GRCm38)	Q367R	probably benign	Het
Ackr4	A	G	9: 104,099,004 (GRCm38)	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,202,887 (GRCm38)	E945G	probably damaging	Het
Akap2	A	G	4: 57,856,752 (GRCm38)	T694A	probably benign	Het
Ano2	A	G	6: 125,982,765 (GRCm38)	M663V	probably damaging	Het
Apc2	T	A	10: 80,306,256 (GRCm38)	C336*	probably null	Het
Arhgap17	A	G	7: 123,294,518 (GRCm38)	S560P	probably benign	Het
Arl5a	T	C	2: 52,405,014 (GRCm38)	D128G	probably damaging	Het
B4galnt2	C	A	11: 95,891,909 (GRCm38)	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,446,628 (GRCm38)	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,218,920 (GRCm38)	F241L	probably benign	Het
Cdh19	A	T	1: 110,925,867 (GRCm38)	D281E	probably benign	Het
Cdk5rap2	T	C	4: 70,354,813 (GRCm38)	E241G	probably damaging	Het
Cherp	A	T	8: 72,462,402 (GRCm38)		probably null	Het
Cpne9	T	A	6: 113,290,400 (GRCm38)		probably benign	Het
Cthrc1	A	T	15: 39,077,142 (GRCm38)	R47W	possibly damaging	Het
Dcaf13	A	G	15: 39,123,268 (GRCm38)	E145G	probably benign	Het
Dcaf4	T	A	12: 83,538,043 (GRCm38)		probably null	Het
Dgka	A	C	10: 128,733,110 (GRCm38)		probably benign	Het
Dhrs13	T	A	11: 78,034,525 (GRCm38)	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577 (GRCm38)	Y88F	probably damaging	Het
Dpp8	A	G	9: 65,036,998 (GRCm38)	T16A	probably damaging	Het
Dscc1	A	T	15: 55,089,052 (GRCm38)	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,475,063 (GRCm38)		probably benign	Het
Elf2	T	C	3: 51,256,453 (GRCm38)	T504A	possibly damaging	Het
Elk3	G	A	10: 93,265,160 (GRCm38)	S243F	probably damaging	Het
Ell2	A	G	13: 75,749,993 (GRCm38)	D93G	probably damaging	Het
Eln	G	T	5: 134,712,398 (GRCm38)		probably benign	Het
Eme1	C	T	11: 94,650,430 (GRCm38)	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,443,770 (GRCm38)	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,036,087 (GRCm38)		probably benign	Het
Fam170b	A	G	14: 32,836,314 (GRCm38)	K369E	unknown	Het
Fam187b	T	A	7: 30,977,154 (GRCm38)	C29*	probably null	Het
Fam20c	T	C	5: 138,766,637 (GRCm38)	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,086,674 (GRCm38)	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,538,487 (GRCm38)	Y421*	probably null	Het
Farp2	T	C	1: 93,576,500 (GRCm38)	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,292,312 (GRCm38)	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,365,552 (GRCm38)	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,325,426 (GRCm38)		probably benign	Het
Fut9	T	C	4: 25,620,526 (GRCm38)	D96G	possibly damaging	Het
Glt8d1	G	A	14: 31,010,410 (GRCm38)		probably null	Het
Gm7579	T	A	7: 142,212,384 (GRCm38)	C176S	unknown	Het
Gmpr2	A	G	14: 55,677,988 (GRCm38)	E272G	probably damaging	Het
Grin2b	T	C	6: 135,733,929 (GRCm38)	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,242,173 (GRCm38)		probably benign	Het
Htr3b	A	T	9: 48,947,631 (GRCm38)	V69E	probably benign	Het
Icam5	A	G	9: 21,035,598 (GRCm38)	N474S	probably benign	Het
Itgal	T	A	7: 127,314,060 (GRCm38)	S610T	probably damaging	Het
Jag1	T	A	2: 137,087,080 (GRCm38)	I819L	probably damaging	Het
Kif9	A	T	9: 110,511,340 (GRCm38)	E467V	probably benign	Het
Krit1	T	C	5: 3,823,694 (GRCm38)	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,746,902 (GRCm38)	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,292,209 (GRCm38)	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,488,950 (GRCm38)		probably benign	Het
Mgat5	T	A	1: 127,412,248 (GRCm38)	D455E	probably damaging	Het
Mical2	A	T	7: 112,318,450 (GRCm38)	Y338F	probably damaging	Het
Mre11a	T	G	9: 14,815,209 (GRCm38)	S396A	probably benign	Het
Mrtfa	G	A	15: 81,017,174 (GRCm38)	T372I	probably damaging	Het
Mtarc2	T	C	1: 184,841,339 (GRCm38)	N121D	probably benign	Het
Myo3a	C	T	2: 22,544,332 (GRCm38)		probably benign	Het
Naca	T	C	10: 128,040,355 (GRCm38)		probably benign	Het
Nav1	A	T	1: 135,467,643 (GRCm38)	I996K	possibly damaging	Het
Ncbp1	A	G	4: 46,170,551 (GRCm38)	N742S	probably benign	Het
Ndufaf3	G	A	9: 108,566,923 (GRCm38)	A2V	probably benign	Het
Niban3	C	A	8: 71,599,135 (GRCm38)	A38E	probably benign	Het
Ntn5	G	T	7: 45,686,681 (GRCm38)	A47S	probably damaging	Het
Or10ag57	T	A	2: 87,387,954 (GRCm38)	I83N	probably damaging	Het
Or1e25	G	A	11: 73,603,392 (GRCm38)	E271K	probably benign	Het
Or1e32	T	C	11: 73,814,617 (GRCm38)	H155R	probably benign	Het
Or2a7	T	A	6: 43,174,607 (GRCm38)	V207E	possibly damaging	Het
Or6c207	T	C	10: 129,269,152 (GRCm38)	Y57C	possibly damaging	Het
Or9i1	G	T	19: 13,862,279 (GRCm38)	C162F	probably benign	Het
Otud7a	T	A	7: 63,727,472 (GRCm38)	L203*	probably null	Het
Pcdhb13	A	G	18: 37,443,931 (GRCm38)	Y454C	probably damaging	Het
Pdzph1	C	T	17: 58,954,479 (GRCm38)	V853M	possibly damaging	Het
Plec	A	G	15: 76,172,253 (GRCm38)	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746 (GRCm38)	E286K	probably damaging	Het
Polr2i	T	A	7: 30,232,745 (GRCm38)		probably null	Het
Ppp1r12b	A	G	1: 134,776,479 (GRCm38)	L879P	probably damaging	Het
Prf1	C	A	10: 61,303,722 (GRCm38)	Y486*	probably null	Het
Qsox2	T	G	2: 26,214,044 (GRCm38)	T325P	probably damaging	Het
Rab1b	G	T	19: 5,100,656 (GRCm38)		probably benign	Het
Rbm19	T	C	5: 120,128,316 (GRCm38)		probably null	Het
Rhobtb2	A	G	14: 69,793,948 (GRCm38)	V576A	probably benign	Het
Rnps1	G	A	17: 24,424,437 (GRCm38)	V215M	probably damaging	Het
Rps11	A	G	7: 45,124,282 (GRCm38)		probably benign	Het
Serpinb3d	C	T	1: 107,079,347 (GRCm38)	M210I	probably damaging	Het
Sgsm1	T	C	5: 113,310,562 (GRCm38)	T17A	probably benign	Het
Slc6a3	A	G	13: 73,538,642 (GRCm38)	T43A	probably damaging	Het
Sox4	C	G	13: 28,952,904 (GRCm38)	A40P	probably damaging	Het
Spry2	A	T	14: 105,893,310 (GRCm38)	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,519,431 (GRCm38)	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,173,414 (GRCm38)	D152G	probably benign	Het
Tbr1	T	C	2: 61,811,620 (GRCm38)	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,629,383 (GRCm38)	V258A	probably damaging	Het
Tirap	C	T	9: 35,188,761 (GRCm38)	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,861 (GRCm38)	V134D	probably damaging	Het
Tnr	A	G	1: 159,850,335 (GRCm38)	T97A	probably benign	Het
Tspan32	T	A	7: 143,015,610 (GRCm38)	F135L	probably damaging	Het
Ttn	T	C	2: 76,789,056 (GRCm38)	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,096,968 (GRCm38)	I251N	probably damaging	Het
Usp38	A	T	8: 81,005,366 (GRCm38)	I305N	probably damaging	Het
Usp4	T	A	9: 108,370,881 (GRCm38)		probably null	Het
Usp5	A	T	6: 124,817,424 (GRCm38)	D764E	probably damaging	Het
Vangl2	A	T	1: 172,004,657 (GRCm38)	V544E	probably damaging	Het
Vldlr	G	A	19: 27,234,819 (GRCm38)	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,307,772 (GRCm38)	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,363,896 (GRCm38)	F656L	probably damaging	Het
Wdfy3	T	A	5: 101,906,185 (GRCm38)	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,280,402 (GRCm38)	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,685,954 (GRCm38)	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,562,567 (GRCm38)	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,845,686 (GRCm38)	Y258*	probably null	Het
Zfp951	T	A	5: 104,814,572 (GRCm38)	Q376L	possibly damaging	Het

Other mutations in Atp6v0a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp6v0a2	APN	5	124,721,777 (GRCm38)	missense	probably benign	0.19
IGL01310:Atp6v0a2	APN	5	124,646,028 (GRCm38)	missense	probably damaging	1.00
IGL01944:Atp6v0a2	APN	5	124,636,105 (GRCm38)	missense	probably benign	0.04
IGL02044:Atp6v0a2	APN	5	124,646,014 (GRCm38)	missense	probably benign	0.00
IGL02400:Atp6v0a2	APN	5	124,721,785 (GRCm38)	missense	probably benign
IGL02650:Atp6v0a2	APN	5	124,712,362 (GRCm38)	splice site	probably benign
IGL02687:Atp6v0a2	APN	5	124,714,142 (GRCm38)	missense	possibly damaging	0.67
IGL02965:Atp6v0a2	APN	5	124,629,202 (GRCm38)	missense	possibly damaging	0.85
IGL03049:Atp6v0a2	APN	5	124,712,781 (GRCm38)	missense	probably damaging	1.00
IGL03088:Atp6v0a2	APN	5	124,714,107 (GRCm38)	splice site	probably benign
IGL03198:Atp6v0a2	APN	5	124,712,361 (GRCm38)	critical splice donor site	probably null
alkaline	UTSW	5	124,719,866 (GRCm38)	missense	probably damaging	1.00
basic	UTSW	5	124,712,328 (GRCm38)	nonsense	probably null
electronegative	UTSW	5	124,646,698 (GRCm38)	missense	probably damaging	1.00
energizer	UTSW	5	124,719,986 (GRCm38)	missense	probably damaging	0.98
Everready	UTSW	5	124,641,505 (GRCm38)	missense	probably damaging	0.99
Lithium	UTSW	5	124,714,145 (GRCm38)	missense	probably damaging	1.00
R0128:Atp6v0a2	UTSW	5	124,713,184 (GRCm38)	missense	probably damaging	1.00
R1540:Atp6v0a2	UTSW	5	124,646,698 (GRCm38)	missense	probably damaging	1.00
R2136:Atp6v0a2	UTSW	5	124,718,488 (GRCm38)	missense	possibly damaging	0.78
R2921:Atp6v0a2	UTSW	5	124,717,917 (GRCm38)	missense	possibly damaging	0.80
R2922:Atp6v0a2	UTSW	5	124,717,917 (GRCm38)	missense	possibly damaging	0.80
R2923:Atp6v0a2	UTSW	5	124,717,917 (GRCm38)	missense	possibly damaging	0.80
R3055:Atp6v0a2	UTSW	5	124,627,144 (GRCm38)	unclassified	probably benign
R3889:Atp6v0a2	UTSW	5	124,639,265 (GRCm38)	missense	probably damaging	1.00
R3893:Atp6v0a2	UTSW	5	124,639,265 (GRCm38)	missense	probably damaging	1.00
R4013:Atp6v0a2	UTSW	5	124,712,796 (GRCm38)	missense	probably damaging	1.00
R4490:Atp6v0a2	UTSW	5	124,646,734 (GRCm38)	missense	probably damaging	1.00
R4791:Atp6v0a2	UTSW	5	124,646,727 (GRCm38)	missense	probably benign	0.17
R5219:Atp6v0a2	UTSW	5	124,713,185 (GRCm38)	missense	probably damaging	1.00
R5247:Atp6v0a2	UTSW	5	124,713,177 (GRCm38)	missense	probably damaging	1.00
R5293:Atp6v0a2	UTSW	5	124,646,709 (GRCm38)	missense	probably benign	0.00
R5620:Atp6v0a2	UTSW	5	124,645,969 (GRCm38)	nonsense	probably null
R5830:Atp6v0a2	UTSW	5	124,641,547 (GRCm38)	missense	probably damaging	1.00
R5875:Atp6v0a2	UTSW	5	124,716,327 (GRCm38)	missense	probably benign
R5903:Atp6v0a2	UTSW	5	124,712,279 (GRCm38)	missense	probably damaging	1.00
R6192:Atp6v0a2	UTSW	5	124,629,203 (GRCm38)	missense	probably benign	0.01
R6425:Atp6v0a2	UTSW	5	124,713,130 (GRCm38)	missense	probably damaging	1.00
R6752:Atp6v0a2	UTSW	5	124,641,514 (GRCm38)	missense	probably damaging	1.00
R6919:Atp6v0a2	UTSW	5	124,712,161 (GRCm38)	splice site	probably null
R6994:Atp6v0a2	UTSW	5	124,714,145 (GRCm38)	missense	probably damaging	1.00
R7053:Atp6v0a2	UTSW	5	124,645,983 (GRCm38)	missense	probably damaging	1.00
R7268:Atp6v0a2	UTSW	5	124,719,866 (GRCm38)	missense	probably damaging	1.00
R7342:Atp6v0a2	UTSW	5	124,646,736 (GRCm38)	missense	probably damaging	1.00
R7349:Atp6v0a2	UTSW	5	124,712,328 (GRCm38)	nonsense	probably null
R7714:Atp6v0a2	UTSW	5	124,637,595 (GRCm38)	missense	probably damaging	1.00
R7715:Atp6v0a2	UTSW	5	124,714,198 (GRCm38)	missense	probably damaging	0.99
R7748:Atp6v0a2	UTSW	5	124,716,496 (GRCm38)	missense	probably benign	0.00
R7775:Atp6v0a2	UTSW	5	124,641,505 (GRCm38)	missense	probably damaging	0.99
R7778:Atp6v0a2	UTSW	5	124,641,505 (GRCm38)	missense	probably damaging	0.99
R7824:Atp6v0a2	UTSW	5	124,641,505 (GRCm38)	missense	probably damaging	0.99
R7833:Atp6v0a2	UTSW	5	124,645,031 (GRCm38)	missense	probably damaging	1.00
R7901:Atp6v0a2	UTSW	5	124,641,547 (GRCm38)	missense	probably damaging	1.00
R7977:Atp6v0a2	UTSW	5	124,719,986 (GRCm38)	missense	probably damaging	0.98
R7987:Atp6v0a2	UTSW	5	124,719,986 (GRCm38)	missense	probably damaging	0.98
R8118:Atp6v0a2	UTSW	5	124,712,773 (GRCm38)	missense	probably damaging	0.98
R8728:Atp6v0a2	UTSW	5	124,719,088 (GRCm38)	missense	probably benign	0.00
R8765:Atp6v0a2	UTSW	5	124,716,470 (GRCm38)	missense	probably damaging	1.00
R8945:Atp6v0a2	UTSW	5	124,646,649 (GRCm38)	missense	probably damaging	1.00
R8971:Atp6v0a2	UTSW	5	124,719,997 (GRCm38)	missense	probably damaging	1.00
R9023:Atp6v0a2	UTSW	5	124,719,074 (GRCm38)	missense	possibly damaging	0.93
R9300:Atp6v0a2	UTSW	5	124,712,248 (GRCm38)	missense	probably damaging	0.98
R9360:Atp6v0a2	UTSW	5	124,629,194 (GRCm38)	missense	possibly damaging	0.77
R9601:Atp6v0a2	UTSW	5	124,713,193 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCCATGTCCTGAATGCTATGAGTC -3'
(R):5'- CTGGGAACAAGAGAACTGTCTCCAAG -3'

Sequencing Primer
(F):5'- TGTCCTGAATGCTATGAGTCAGAAG -3'
(R):5'- tcctcaaacacgcaaacac -3'

Posted On

2013-07-11