Mutagenetix > Incidental Mutation

Incidental Mutation 'R9300:Atp6v0a2'

704848

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a2

Ensembl Gene

ENSMUSG00000038023

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A2

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9300 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124767117-124801519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124789312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 360 (I360F)

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: I360F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: I360F

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

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Acad8	A	T	9: 26,888,928 (GRCm39)	H371Q	probably damaging	Het
Actn3	G	T	19: 4,921,656 (GRCm39)	R175S	probably benign	Het
Adamts9	G	T	6: 92,864,371 (GRCm39)	D780E	probably benign	Het
AK157302	C	A	13: 21,679,537 (GRCm39)	T21K	probably benign	Het
Ank3	A	T	10: 69,706,872 (GRCm39)	H329L	unknown	Het
Ankrd36	A	G	11: 5,519,979 (GRCm39)	H18R	possibly damaging	Het
Anks1b	T	A	10: 90,412,966 (GRCm39)	V38D	possibly damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Arid1b	C	A	17: 5,293,274 (GRCm39)	P731T	probably damaging	Het
Atp1a4	A	G	1: 172,067,398 (GRCm39)	F578S	probably damaging	Het
Bcas3	A	T	11: 85,448,184 (GRCm39)	I600F	probably damaging	Het
C1qtnf7	T	G	5: 43,766,441 (GRCm39)	C20W	possibly damaging	Het
Cadm1	A	T	9: 47,708,821 (GRCm39)	K184*	probably null	Het
Ccdc138	A	T	10: 58,343,448 (GRCm39)	H101L	probably benign	Het
Cep120	T	A	18: 53,852,369 (GRCm39)	N503I	probably damaging	Het
Chil4	T	C	3: 106,109,874 (GRCm39)	T380A	probably benign	Het
Clip2	A	G	5: 134,526,942 (GRCm39)		probably null	Het
Cyp3a11	G	A	5: 145,799,164 (GRCm39)	P341L	possibly damaging	Het
Cyp3a41a	G	C	5: 145,656,906 (GRCm39)		probably benign	Het
Dcaf1	A	G	9: 106,725,042 (GRCm39)	I509M	possibly damaging	Het
Dcaf13	T	C	15: 39,010,102 (GRCm39)	S429P	probably damaging	Het
Eln	A	G	5: 134,758,220 (GRCm39)	V151A	unknown	Het
Endou	T	G	15: 97,610,954 (GRCm39)	M377L	probably benign	Het
Etfa	A	G	9: 55,396,152 (GRCm39)	I138T	probably damaging	Het
Fbxw10	T	A	11: 62,768,109 (GRCm39)	S982T	probably benign	Het
Gm9602	A	T	14: 15,933,435 (GRCm39)	R47*	probably null	Het
Hectd4	G	A	5: 121,486,952 (GRCm39)	V3316I	probably benign	Het
Hif1a	T	C	12: 73,987,302 (GRCm39)	L477S	probably benign	Het
Icam5	G	C	9: 20,946,846 (GRCm39)	G458A	probably benign	Het
Itm2b	A	T	14: 73,603,896 (GRCm39)	D106E	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kif16b	G	T	2: 142,541,207 (GRCm39)	D1364E	probably benign	Het
Lbhd1	G	A	19: 8,861,550 (GRCm39)	V61M	probably damaging	Het
Lclat1	T	A	17: 73,546,919 (GRCm39)	S279T	probably benign	Het
Lhx4	G	A	1: 155,580,956 (GRCm39)	L190F	probably damaging	Het
Lima1	C	T	15: 99,704,320 (GRCm39)	S283N	probably benign	Het
Magi1	C	A	6: 93,724,209 (GRCm39)	D496Y	probably damaging	Het
Map1a	T	C	2: 121,133,446 (GRCm39)	S1421P	probably damaging	Het
Map3k20	C	T	2: 72,202,257 (GRCm39)	H163Y	probably damaging	Het
Mier3	T	G	13: 111,822,890 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,692,284 (GRCm39)	Q560*	probably null	Het
Mmp25	T	A	17: 23,851,728 (GRCm39)	D327V	probably benign	Het
Nckap5	G	A	1: 125,909,423 (GRCm39)	Q1603*	probably null	Het
Nell1	G	A	7: 49,712,368 (GRCm39)	V63I	probably benign	Het
Or10al3	C	T	17: 38,011,815 (GRCm39)	P85S	probably damaging	Het
Or2ag2b	A	T	7: 106,418,111 (GRCm39)	I274F	probably benign	Het
Or8a1	A	C	9: 37,641,578 (GRCm39)	S234A	probably benign	Het
Pde12	C	T	14: 26,386,931 (GRCm39)	E526K	probably damaging	Het
Pfn4	T	C	12: 4,825,442 (GRCm39)	V93A	possibly damaging	Het
Poglut2	A	G	1: 44,156,362 (GRCm39)	I75T	possibly damaging	Het
Ppp2r3d	A	G	9: 124,423,977 (GRCm38)	S60P	unknown	Het
Prelp	T	C	1: 133,842,257 (GRCm39)	H296R	probably damaging	Het
Prickle1	T	C	15: 93,398,749 (GRCm39)	E693G	possibly damaging	Het
Rars1	A	G	11: 35,706,488 (GRCm39)	L477P	probably damaging	Het
Rasal1	G	A	5: 120,802,172 (GRCm39)	R328H	probably damaging	Het
Rasef	A	G	4: 73,659,393 (GRCm39)	F220S	probably benign	Het
Rif1	C	T	2: 52,001,151 (GRCm39)	S1535L	probably damaging	Het
Rnf17	T	C	14: 56,697,495 (GRCm39)	I463T	possibly damaging	Het
Ryr3	A	T	2: 112,690,695 (GRCm39)	D1138E	probably benign	Het
Scn9a	T	A	2: 66,335,236 (GRCm39)	Y1251F	probably benign	Het
Sdk2	A	G	11: 113,715,856 (GRCm39)	W1568R	possibly damaging	Het
Senp6	A	G	9: 80,049,433 (GRCm39)	E1019G	probably damaging	Het
Shh	A	G	5: 28,663,461 (GRCm39)	Y236H	probably damaging	Het
Sin3a	A	G	9: 57,014,744 (GRCm39)	D655G	probably damaging	Het
Slc35a4	C	T	18: 36,815,274 (GRCm39)	P35S	probably damaging	Het
Slc35g1	T	C	19: 38,384,633 (GRCm39)	L24P	probably benign	Het
Slc39a4	G	T	15: 76,498,759 (GRCm39)	Q312K	probably damaging	Het
Slc6a5	A	T	7: 49,601,175 (GRCm39)	I659F	probably damaging	Het
Slc7a4	T	C	16: 17,392,399 (GRCm39)	Y345C	probably benign	Het
Slco6c1	G	T	1: 96,993,809 (GRCm39)	R645S	probably benign	Het
Soat1	T	C	1: 156,268,923 (GRCm39)	Y209C	probably benign	Het
Tbc1d9b	T	C	11: 50,054,714 (GRCm39)	S953P	probably benign	Het
Tgm1	G	A	14: 55,942,303 (GRCm39)	H683Y	probably benign	Het
Tmem98	G	A	11: 80,708,432 (GRCm39)	R134Q	probably damaging	Het
Trpm3	A	C	19: 22,955,745 (GRCm39)	M1107L	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,872 (GRCm39)	V179I	probably benign	Het
Vmn1r119	G	T	7: 20,745,638 (GRCm39)	T248K	probably damaging	Het
Vmn1r236	T	A	17: 21,506,945 (GRCm39)	I21N	possibly damaging	Het
Vmn2r24	A	G	6: 123,793,030 (GRCm39)	T786A	possibly damaging	Het
Vstm5	A	T	9: 15,168,585 (GRCm39)	I50F	probably damaging	Het
Wdr1	T	C	5: 38,685,255 (GRCm39)	D572G	probably damaging	Het
Xaf1	T	C	11: 72,192,517 (GRCm39)	F5S	probably benign	Het
Zan	A	T	5: 137,468,519 (GRCm39)		probably null	Het
Zfp697	T	C	3: 98,334,979 (GRCm39)	V248A	possibly damaging	Het
Zftraf1	C	A	15: 76,530,541 (GRCm39)	V260L	probably benign	Het
Zkscan3	T	A	13: 21,577,667 (GRCm39)	T249S	unknown	Het
Znfx1	A	G	2: 166,897,860 (GRCm39)	Y355H	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCAGTGACCCACTTCTG -3'
(R):5'- GCTTGACAAACATCTACTCCATTCC -3'

Sequencing Primer
(F):5'- AGTGACCCACTTCTGTGAGCATG -3'
(R):5'- TGTAAGCCCAGCACTCAGGAG -3'

Posted On

2022-03-25