Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Atp6v0a2'

662566

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

Accession Numbers

Essential gene?

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

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124628576-124724455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124719088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 739 (S739P)

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: S739P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: S739P

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

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

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,312	T514A	probably benign	Het
Adam2	A	G	14: 66,057,637	L253P	probably damaging	Het
Adamts20	C	T	15: 94,331,400	G946D	probably benign	Het
Afdn	A	G	17: 13,898,945	R1648G	probably damaging	Het
Ak9	G	A	10: 41,406,963	A1242T		Het
Anxa9	T	C	3: 95,302,668	K127E	probably damaging	Het
Bloc1s6	A	T	2: 122,746,106	M122L	possibly damaging	Het
Bms1	A	G	6: 118,392,370	I990T	possibly damaging	Het
Cdk14	G	A	5: 5,420,117		silent	Het
Celsr3	T	C	9: 108,846,741	L2899S	probably benign	Het
Ces1b	A	T	8: 93,071,948	D203E	probably benign	Het
Cnnm1	A	G	19: 43,484,926	N753S	probably benign	Het
Col19a1	C	T	1: 24,326,032	G501R	probably damaging	Het
Cym	A	G	3: 107,218,675	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,626,161	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,098,312		probably null	Het
Cyp4a31	G	A	4: 115,565,028	E70K	probably benign	Het
Dagla	G	A	19: 10,248,407	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,846,806	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,233,833	L28P	probably benign	Het
Ddr2	T	C	1: 170,001,983	D234G	possibly damaging	Het
Fam83a	T	A	15: 58,009,666	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,520,036	D426V	probably damaging	Het
Gm10093	A	G	17: 78,492,903	K441R	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm43302	T	C	5: 105,290,927	I32V	probably benign	Het
Gm9944	T	C	4: 144,453,031	Y96C	unknown	Het
Impdh2	C	T	9: 108,560,363		probably benign	Het
Iws1	G	A	18: 32,083,281	R358Q	probably damaging	Het
Kctd18	G	T	1: 57,963,130	D179E	probably damaging	Het
Krt13	T	G	11: 100,121,492	S2R	probably null	Het
Krt78	A	T	15: 101,947,790	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,643,962	C25S	unknown	Het
Lama1	T	C	17: 67,818,668	I2940T		Het
Lmnb2	A	G	10: 80,905,079		probably null	Het
Lrrc27	A	T	7: 139,242,639	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,208,657	T67M	probably benign	Het
Malrd1	T	A	2: 15,696,942	C789*	probably null	Het
Mei1	T	G	15: 82,081,981	V268G		Het
Mical3	C	A	6: 120,973,553	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,479	P29L	probably benign	Het
Mroh2b	T	C	15: 4,905,640	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952	T1609S	unknown	Het
Myrfl	A	T	10: 116,798,640	C616*	probably null	Het
Ncor1	C	T	11: 62,330,859	A946T	probably benign	Het
Olfr122	C	A	17: 37,771,751	L33M	probably damaging	Het
Olfr330	T	C	11: 58,529,201	T262A	probably benign	Het
Pbp2	T	C	6: 135,310,106	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,069,088	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 12,897,278	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,617,804	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,586,873		probably null	Het
Rbm4b	G	A	19: 4,762,191	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,557	V238A	probably damaging	Het
Sesn1	G	T	10: 41,903,775	G402W	probably damaging	Het
Six4	A	G	12: 73,112,406	V260A	probably benign	Het
Srrm2	G	A	17: 23,819,857	R1825Q	unknown	Het
Stat1	G	A	1: 52,139,194	W262*	probably null	Het
Tcf20	A	T	15: 82,854,957	D764E	probably damaging	Het
Tgm2	T	C	2: 158,120,145	N585D	probably benign	Het
Tmf1	A	T	6: 97,156,860	L1039H	probably damaging	Het
Trak2	A	G	1: 58,935,775	V86A	probably benign	Het
Ttc39b	A	G	4: 83,253,010	I202T	probably damaging	Het
Uhrf1bp1l	A	T	10: 89,782,720	M274L	probably benign	Het
Vmn1r30	A	G	6: 58,435,475	F124S	probably benign	Het
Vwa7	T	A	17: 35,017,157	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,731,513	M281L	probably benign	Het
Zfand2a	C	T	5: 139,481,998	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,031,820	A935P	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCCACTGAGAGTAGGATTTAC -3'
(R):5'- ATTGTGCCAGAGGTCACCAG -3'

Sequencing Primer
(F):5'- CACTGAGAGTAGGATTTACGCCTC -3'
(R):5'- AGGGTCCCTCTCTGCCTAG -3'

Posted On

2021-03-08