Mutagenetix > Incidental Mutation

Incidental Mutation 'R6919:Atp6v0a2'

539491

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

045039-MU

Accession Numbers

Essential gene?

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

Stock #

R6919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124767117-124801519 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 124789225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000037865

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023

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: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (84/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,043,356 (GRCm39)		probably benign	Het
6430548M08Rik	T	C	8: 120,872,221 (GRCm39)	S50P	probably damaging	Het
Aacs	A	G	5: 125,583,227 (GRCm39)	D261G	probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Agbl5	T	A	5: 31,062,061 (GRCm39)	F196I	probably benign	Het
Ahnak2	T	C	12: 112,741,118 (GRCm39)	T985A	possibly damaging	Het
Ak1	A	T	2: 32,521,134 (GRCm39)	D101V	possibly damaging	Het
Alx1	A	G	10: 102,861,061 (GRCm39)	Y156H	probably damaging	Het
Angptl7	T	A	4: 148,584,488 (GRCm39)	S87C	probably benign	Het
Ankrd36	A	G	11: 5,579,299 (GRCm39)	T188A	probably benign	Het
Arhgap11a	A	C	2: 113,670,054 (GRCm39)	S356R	possibly damaging	Het
Ascc3	G	T	10: 50,521,849 (GRCm39)	E455*	probably null	Het
B3gnt7	T	C	1: 86,233,416 (GRCm39)	W104R	probably damaging	Het
Bbs9	G	A	9: 22,723,840 (GRCm39)		probably null	Het
Cc2d2a	T	A	5: 43,860,557 (GRCm39)	D544E	probably benign	Het
Cic	C	T	7: 24,971,202 (GRCm39)	T311I	probably benign	Het
Cngb1	T	A	8: 95,975,003 (GRCm39)	R1157W	probably null	Het
Cntln	A	G	4: 85,033,605 (GRCm39)	H1310R	probably benign	Het
Cntnap5c	A	T	17: 58,600,948 (GRCm39)	I764F	probably benign	Het
Col26a1	T	C	5: 136,773,088 (GRCm39)	Q362R	possibly damaging	Het
Cyp2c29	G	A	19: 39,279,585 (GRCm39)	R100K	probably benign	Het
D17H6S53E	C	G	17: 35,346,222 (GRCm39)	D44E	probably damaging	Het
Dap3	A	G	3: 88,838,296 (GRCm39)	V65A	probably damaging	Het
Dna2	A	T	10: 62,792,782 (GRCm39)	I266F	probably damaging	Het
Dnah14	G	A	1: 181,412,631 (GRCm39)	G57E	probably benign	Het
Dock9	A	T	14: 121,880,564 (GRCm39)	V333E	probably benign	Het
Dpm1	A	G	2: 168,072,195 (GRCm39)	Y27H	probably damaging	Het
Dsp	A	T	13: 38,351,631 (GRCm39)	Y150F	possibly damaging	Het
Emilin3	A	T	2: 160,750,018 (GRCm39)	I577N	probably damaging	Het
Erap1	A	G	13: 74,819,552 (GRCm39)	T189A	probably benign	Het
Fat2	A	G	11: 55,173,597 (GRCm39)	I2372T	possibly damaging	Het
Fbn2	A	T	18: 58,257,259 (GRCm39)		probably null	Het
Gnl1	A	T	17: 36,298,425 (GRCm39)	R390*	probably null	Het
Hivep1	A	G	13: 42,336,928 (GRCm39)	I2336V	probably benign	Het
Il17rb	C	G	14: 29,726,228 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,716,883 (GRCm39)	W396R	probably damaging	Het
Katnal2	A	G	18: 77,098,734 (GRCm39)	V152A	probably benign	Het
Kcnk3	A	G	5: 30,779,744 (GRCm39)	T265A	probably benign	Het
Klhl1	T	C	14: 96,374,030 (GRCm39)	Y672C	probably benign	Het
Leng8	C	A	7: 4,146,625 (GRCm39)	N412K	possibly damaging	Het
Lrrc9	T	A	12: 72,553,167 (GRCm39)	F1356L	probably benign	Het
Map7	A	G	10: 20,046,828 (GRCm39)		probably benign	Het
Mei1	T	C	15: 81,966,131 (GRCm39)	F251S	probably damaging	Het
Mia2	A	G	12: 59,176,681 (GRCm39)	E9G	possibly damaging	Het
Ms4a13	C	A	19: 11,149,249 (GRCm39)	W182C	probably benign	Het
Muc16	C	T	9: 18,571,595 (GRCm39)	R308K	unknown	Het
Or4c103	G	A	2: 88,514,028 (GRCm39)	T16I	possibly damaging	Het
Or8g22	A	G	9: 38,958,827 (GRCm39)		probably benign	Het
Pcnt	A	G	10: 76,221,632 (GRCm39)	V1998A	probably benign	Het
Pgm2	A	T	5: 64,254,368 (GRCm39)	N51I	probably benign	Het
Piezo1	T	A	8: 123,217,020 (GRCm39)	H1333L	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prss51	T	C	14: 64,334,937 (GRCm39)	V182A	probably damaging	Het
Psmb9	A	T	17: 34,402,199 (GRCm39)	Y132*	probably null	Het
Ralyl	T	C	3: 13,842,091 (GRCm39)	Y76H	probably damaging	Het
Rnaset2a	A	T	17: 8,349,114 (GRCm39)	D174E	probably benign	Het
Rnft1	G	A	11: 86,386,156 (GRCm39)		probably null	Het
Robo2	T	C	16: 73,758,755 (GRCm39)	Y676C	probably damaging	Het
Samd9l	T	G	6: 3,376,313 (GRCm39)	Y316S	possibly damaging	Het
Siah3	T	A	14: 75,693,578 (GRCm39)	F28Y	possibly damaging	Het
Slc28a3	C	T	13: 58,721,257 (GRCm39)		probably null	Het
Slc8a1	A	G	17: 81,696,301 (GRCm39)	F911S	probably damaging	Het
Spata31e2	T	C	1: 26,722,015 (GRCm39)	Y1055C	probably benign	Het
Speg	T	A	1: 75,364,552 (GRCm39)	L156*	probably null	Het
Spopl	T	G	2: 23,407,873 (GRCm39)	M269L	probably benign	Het
Tacr1	C	T	6: 82,534,054 (GRCm39)	T360I	probably benign	Het
Tasor	T	A	14: 27,171,758 (GRCm39)	L397*	probably null	Het
Tmem262	A	G	19: 6,130,767 (GRCm39)	E95G	probably benign	Het
Tmem68	G	T	4: 3,569,669 (GRCm39)	T7N	possibly damaging	Het
Top3a	T	A	11: 60,640,319 (GRCm39)	I460F	probably damaging	Het
Trafd1	G	A	5: 121,522,137 (GRCm39)	R5*	probably null	Het
Trim16	T	A	11: 62,731,695 (GRCm39)	V435D	possibly damaging	Het
Tspan17	A	G	13: 54,943,846 (GRCm39)	D236G	probably damaging	Het
Tssk2	A	T	16: 17,717,565 (GRCm39)	M323L	probably benign	Het
Ubqln5	A	G	7: 103,778,215 (GRCm39)	V203A	probably benign	Het
Utrn	A	T	10: 12,569,214 (GRCm39)	L1134*	probably null	Het
Vmn1r37	C	T	6: 66,708,704 (GRCm39)	S73F	possibly damaging	Het
Vps13c	A	G	9: 67,834,734 (GRCm39)	K1688E	probably damaging	Het
Zbtb39	A	G	10: 127,577,711 (GRCm39)	D95G	probably damaging	Het
Zfhx3	T	A	8: 109,527,160 (GRCm39)	I1019N	probably damaging	Het
Zfp207	C	T	11: 80,286,329 (GRCm39)		probably benign	Het
Zmiz1	C	T	14: 25,644,062 (GRCm39)	T169M	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
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
R9300:Atp6v0a2	UTSW	5	124,789,312 (GRCm39)	missense	probably damaging	0.98
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'- GTCATATAGCTCCGTCCTGC -3'
(R):5'- CATAGGCATCCACGATGTTCTG -3'

Sequencing Primer
(F):5'- TTCCCAGAGGTCACAGCTC -3'
(R):5'- CACGATGTTCTGGAAACCTTCAGTG -3'

Posted On

2018-11-06