Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Atp6v1b2'

239608

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b2

Ensembl Gene

ENSMUSG00000006273

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B2

Synonyms

HO57, Atp6b2

MMRRC Submission

040230-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2229 (G1)

Quality Score

225

Status

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: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,311,795 (GRCm39)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,572,766 (GRCm39)	S350N	probably benign	Het
Agbl1	A	G	7: 76,083,126 (GRCm39)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,560,168 (GRCm39)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,455,280 (GRCm39)	N18K	probably damaging	Het
Banp	G	A	8: 122,705,424 (GRCm39)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,059,945 (GRCm39)	D601G	probably damaging	Het
C9	T	C	15: 6,474,901 (GRCm39)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,575,816 (GRCm39)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,955,867 (GRCm39)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,718,772 (GRCm39)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,758,485 (GRCm39)	P502S	probably benign	Het
Fsip1	T	C	2: 118,052,925 (GRCm39)	E367G	probably benign	Het
Gja3	T	C	14: 57,274,171 (GRCm39)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,185,490 (GRCm39)		probably benign	Het
Gm7853	A	G	14: 35,811,484 (GRCm39)		noncoding transcript	Het
Gmps	T	G	3: 63,921,684 (GRCm39)	Y562*	probably null	Het
Golga2	C	A	2: 32,196,477 (GRCm39)	P976T	probably benign	Het
Gpr182	T	A	10: 127,586,010 (GRCm39)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,502,891 (GRCm39)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,828,339 (GRCm39)	T516A	probably benign	Het
H2ac21	T	C	3: 96,127,422 (GRCm39)	L64P	possibly 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
Kif3c	T	A	12: 3,416,671 (GRCm39)	S231T	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,740,226 (GRCm39)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm39)	S121G	probably benign	Het
Mppe1	A	G	18: 67,361,082 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,415,381 (GRCm39)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,199,174 (GRCm39)	N1893K	probably damaging	Het
Myo7a	T	C	7: 97,704,117 (GRCm39)	T1932A	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
Nek5	A	T	8: 22,603,648 (GRCm39)	N151K	possibly damaging	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Oca2	T	A	7: 56,006,903 (GRCm39)	H663Q	probably benign	Het
Optn	T	A	2: 5,028,928 (GRCm39)	H525L	probably damaging	Het
Pdzph1	A	G	17: 59,239,407 (GRCm39)		probably benign	Het
Pikfyve	A	G	1: 65,307,014 (GRCm39)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,563,382 (GRCm39)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Prpf19	A	G	19: 10,874,962 (GRCm39)	T39A	probably benign	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,152,688 (GRCm39)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,698,104 (GRCm39)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,707,180 (GRCm39)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm39)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,324,210 (GRCm39)		probably benign	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,072,334 (GRCm39)		probably null	Het
Tas2r104	G	A	6: 131,662,095 (GRCm39)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,965,249 (GRCm39)		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
Trim25	T	A	11: 88,907,447 (GRCm39)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,824,983 (GRCm39)	E54G	probably damaging	Het
Ttn	T	C	2: 76,559,668 (GRCm39)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,480,629 (GRCm39)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp13	A	G	3: 32,971,700 (GRCm39)	I727V	probably benign	Het
Vmn2r67	T	A	7: 84,801,250 (GRCm39)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,387,654 (GRCm39)	I220L	probably benign	Het
Wnk4	T	A	11: 101,166,467 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,520,557 (GRCm39)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,743,384 (GRCm39)	I60M	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
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'- GGATTACCACACAACGAGGTG -3'
(R):5'- GACTCCTAAGTTTTGCTAAAATGCC -3'

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

Posted On

2014-10-15