Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Atp6v1b2'

239858

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b2

Ensembl Gene

ENSMUSG00000006273

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B2

Synonyms

HO57, Atp6b2

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69541388-69566370 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 69555411 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153680

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Flrt1	T	A	19: 7,072,723 (GRCm39)	D608V	probably damaging	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Mcm8	T	A	2: 132,662,041 (GRCm39)	I125K	possibly damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,701,451 (GRCm39)	V389M	probably damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Tro	A	T	X: 149,438,477 (GRCm39)	M60K	probably benign	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	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
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
R5894:Atp6v1b2	UTSW	8	69,560,218 (GRCm39)	splice site	probably null
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'- TGAGGGCAGATGGACTTGTC -3'
(R):5'- GACTCCTAAGTTTTGCTAAAATGCC -3'

Sequencing Primer
(F):5'- CAGATGGACTTGTCGTGCC -3'
(R):5'- GCTAAAATGCCAAGATACAGAGTTTC -3'

Posted On

2014-10-15