Mutagenetix > Incidental Mutation

Incidental Mutation 'R5894:Atp6v1b2'

457380

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b2

Ensembl Gene

ENSMUSG00000006273

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B2

Synonyms

HO57, Atp6b2

MMRRC Submission

043238-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69541388-69566370 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 69560218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006435]

AlphaFold

P62814

Predicted Effect

probably null
Transcript: ENSMUST00000006435

SMART Domains

Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	50	116	3.2e-14	PFAM
Pfam:ATP-synt_ab	173	399	1.9e-69	PFAM
Pfam:ATP-synt_ab_C	416	510	5.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153079

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	A	3: 146,356,680 (GRCm39)	E76V	probably benign	Het
Adcy2	A	T	13: 68,773,971 (GRCm39)	I1024N	probably damaging	Het
Agr2	A	C	12: 36,045,509 (GRCm39)		probably benign	Het
Alpk2	T	A	18: 65,414,143 (GRCm39)	H1991L	probably damaging	Het
Amotl2	T	A	9: 102,602,371 (GRCm39)	M448K	possibly damaging	Het
Ankhd1	T	A	18: 36,780,577 (GRCm39)	F1876L	probably damaging	Het
Arl14	T	C	3: 69,130,009 (GRCm39)	V52A	probably benign	Het
Bmal2	A	G	6: 146,724,732 (GRCm39)	T409A	possibly damaging	Het
Bpifb4	G	A	2: 153,782,852 (GRCm39)	R19H	possibly damaging	Het
Cdh9	T	A	15: 16,832,186 (GRCm39)	L358I	possibly damaging	Het
Ces2h	T	G	8: 105,745,658 (GRCm39)	I460M	probably benign	Het
Cog2	T	C	8: 125,272,006 (GRCm39)	Y507H	probably benign	Het
Crlf3	T	A	11: 79,948,678 (GRCm39)	R256W	probably damaging	Het
Csdc2	T	A	15: 81,832,881 (GRCm39)	F96I	probably damaging	Het
Csk	A	C	9: 57,535,958 (GRCm39)	I264S	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Ddx43	G	A	9: 78,324,016 (GRCm39)	G449D	probably damaging	Het
Fbxw18	G	T	9: 109,529,235 (GRCm39)	A106E	possibly damaging	Het
Fchsd2	C	T	7: 100,840,959 (GRCm39)	T156I	probably benign	Het
Frs2	T	A	10: 116,917,011 (GRCm39)		probably benign	Het
Gm57858	C	T	3: 36,074,124 (GRCm39)	E342K	possibly damaging	Het
Grid2ip	A	T	5: 143,374,666 (GRCm39)	T922S	probably damaging	Het
Grm1	A	G	10: 10,955,999 (GRCm39)	L95P	probably damaging	Het
Ift140	T	C	17: 25,252,893 (GRCm39)	V348A	possibly damaging	Het
Insr	A	G	8: 3,224,869 (GRCm39)	S200P	possibly damaging	Het
Ints12	A	T	3: 132,804,319 (GRCm39)	D102V	probably damaging	Het
Kank1	A	G	19: 25,401,564 (GRCm39)	D1057G	probably damaging	Het
Kng1	T	A	16: 22,892,113 (GRCm39)	D225E	probably benign	Het
Lama1	A	T	17: 68,086,042 (GRCm39)		probably null	Het
Lpin2	A	G	17: 71,553,929 (GRCm39)	D882G	probably benign	Het
Lrp1b	A	T	2: 41,388,233 (GRCm39)	F464Y	probably benign	Het
Musk	G	A	4: 58,373,583 (GRCm39)	C836Y	probably damaging	Het
Mx1	C	T	16: 97,255,406 (GRCm39)	D216N	probably damaging	Het
Ndrg3	A	T	2: 156,770,698 (GRCm39)	N350K	probably benign	Het
Oas3	G	A	5: 120,895,019 (GRCm39)	P990L	probably damaging	Het
Or4c111	T	A	2: 88,844,399 (GRCm39)	N3I	probably damaging	Het
Or4c12b	T	C	2: 89,647,557 (GRCm39)	S296P	possibly damaging	Het
Or6c2	A	G	10: 129,362,357 (GRCm39)	D87G	probably damaging	Het
Otoa	T	C	7: 120,721,092 (GRCm39)	L369P	probably damaging	Het
Plcg2	A	G	8: 118,231,088 (GRCm39)	T57A	probably damaging	Het
Prune2	A	T	19: 17,098,755 (GRCm39)	T1420S	possibly damaging	Het
Ptpdc1	A	G	13: 48,743,798 (GRCm39)	F201S	probably damaging	Het
Rnf214	A	G	9: 45,777,916 (GRCm39)	V630A	probably damaging	Het
Rxrb	T	A	17: 34,254,718 (GRCm39)	I181N	probably damaging	Het
Scrib	T	C	15: 75,939,581 (GRCm39)	N69S	probably damaging	Het
Scyl2	A	G	10: 89,476,681 (GRCm39)	S815P	probably benign	Het
Sgcd	A	G	11: 47,246,028 (GRCm39)	V58A	probably damaging	Het
Slc13a3	C	T	2: 165,266,543 (GRCm39)	V374I	probably benign	Het
Slc22a4	A	T	11: 53,888,341 (GRCm39)	I229N	probably benign	Het
Slc44a5	A	G	3: 153,962,210 (GRCm39)	Y381C	probably damaging	Het
Sohlh1	A	G	2: 25,734,679 (GRCm39)	S205P	possibly damaging	Het
Spata20	T	C	11: 94,374,444 (GRCm39)	M308V	probably damaging	Het
Stag3	T	G	5: 138,297,100 (GRCm39)	I550R	probably damaging	Het
Tac2	A	G	10: 127,561,971 (GRCm39)	E25G	possibly damaging	Het
Tars2	T	C	3: 95,654,964 (GRCm39)		probably null	Het
Tefm	G	A	11: 80,031,057 (GRCm39)	R60C	probably damaging	Het
Trem3	T	C	17: 48,565,483 (GRCm39)	V179A	probably benign	Het
Trim37	G	T	11: 87,092,266 (GRCm39)	D692Y	probably damaging	Het
Trpc4ap	T	C	2: 155,508,133 (GRCm39)	T173A	probably benign	Het
Unc13c	C	T	9: 73,600,486 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,238,456 (GRCm39)	K201R	probably benign	Het
Usp35	T	A	7: 96,962,284 (GRCm39)	Y524F	probably damaging	Het
Usp53	A	G	3: 122,752,734 (GRCm39)	F208L	probably damaging	Het
Vmn1r80	A	T	7: 11,927,654 (GRCm39)	I255F	probably damaging	Het
Vstm2a	A	T	11: 16,211,483 (GRCm39)	I98F	probably benign	Het
Wdfy4	T	A	14: 32,855,317 (GRCm39)	I766F	possibly damaging	Het
Wdr17	T	A	8: 55,149,335 (GRCm39)	Y55F	probably damaging	Het
Xpot	T	C	10: 121,449,551 (GRCm39)	K172R	probably damaging	Het

Other mutations in Atp6v1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp6v1b2	APN	8	69,541,586 (GRCm39)	splice site	probably null
IGL00908:Atp6v1b2	APN	8	69,548,918 (GRCm39)	missense	probably benign	0.00
IGL01914:Atp6v1b2	APN	8	69,548,932 (GRCm39)	splice site	probably benign
IGL03010:Atp6v1b2	APN	8	69,558,534 (GRCm39)	missense	probably damaging	0.97
IGL03376:Atp6v1b2	APN	8	69,554,811 (GRCm39)	splice site	probably benign
R0127:Atp6v1b2	UTSW	8	69,556,112 (GRCm39)	missense	probably damaging	1.00
R0427:Atp6v1b2	UTSW	8	69,554,084 (GRCm39)	missense	probably damaging	1.00
R0523:Atp6v1b2	UTSW	8	69,562,637 (GRCm39)	missense	possibly damaging	0.52
R1754:Atp6v1b2	UTSW	8	69,554,613 (GRCm39)	missense	probably benign	0.25
R1932:Atp6v1b2	UTSW	8	69,555,459 (GRCm39)	nonsense	probably null
R1954:Atp6v1b2	UTSW	8	69,558,555 (GRCm39)	missense	possibly damaging	0.95
R2228:Atp6v1b2	UTSW	8	69,555,411 (GRCm39)	splice site	probably null
R2229:Atp6v1b2	UTSW	8	69,555,411 (GRCm39)	splice site	probably null
R4448:Atp6v1b2	UTSW	8	69,554,674 (GRCm39)	missense	probably benign
R4738:Atp6v1b2	UTSW	8	69,556,062 (GRCm39)	missense	probably benign
R5243:Atp6v1b2	UTSW	8	69,556,391 (GRCm39)	missense	probably benign	0.07
R5388:Atp6v1b2	UTSW	8	69,554,089 (GRCm39)	missense	probably benign	0.00
R5664:Atp6v1b2	UTSW	8	69,560,272 (GRCm39)	missense	probably damaging	0.99
R5774:Atp6v1b2	UTSW	8	69,554,613 (GRCm39)	missense	probably damaging	0.97
R6015:Atp6v1b2	UTSW	8	69,555,148 (GRCm39)	missense	probably damaging	1.00
R6147:Atp6v1b2	UTSW	8	69,555,134 (GRCm39)	nonsense	probably null
R6217:Atp6v1b2	UTSW	8	69,562,530 (GRCm39)	critical splice acceptor site	probably null
R6636:Atp6v1b2	UTSW	8	69,554,026 (GRCm39)	missense	probably damaging	1.00
R6637:Atp6v1b2	UTSW	8	69,554,026 (GRCm39)	missense	probably damaging	1.00
R7032:Atp6v1b2	UTSW	8	69,541,548 (GRCm39)	missense	probably benign	0.44
R7108:Atp6v1b2	UTSW	8	69,555,153 (GRCm39)	missense	probably damaging	1.00
R7184:Atp6v1b2	UTSW	8	69,555,219 (GRCm39)	missense	possibly damaging	0.55
R7578:Atp6v1b2	UTSW	8	69,556,128 (GRCm39)	missense	probably benign	0.01
R8168:Atp6v1b2	UTSW	8	69,560,983 (GRCm39)	missense	possibly damaging	0.93
R8342:Atp6v1b2	UTSW	8	69,554,035 (GRCm39)	missense	probably benign	0.00
R8380:Atp6v1b2	UTSW	8	69,556,042 (GRCm39)	missense	probably damaging	1.00
R8961:Atp6v1b2	UTSW	8	69,555,414 (GRCm39)	missense	probably benign	0.01
R9100:Atp6v1b2	UTSW	8	69,541,476 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCTACAGATATGCTTGCAGACC -3'
(R):5'- AGACAACTGATGCCATTTAAAGGC -3'

Sequencing Primer
(F):5'- GATATGCTTGCAGACCAAACC -3'
(R):5'- CTGCTTACTAGGAGAAAACAGTTCC -3'

Posted On

2017-02-15