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

Atp6b2, HO57

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

69088646-69113711 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 69102759 bp (GRCm38)

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: 40,680,365 (GRCm38)	I291L	probably benign	Het
Adcy8	C	A	15: 64,822,207 (GRCm38)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,436,051 (GRCm38)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,752,403 (GRCm38)	S350N	probably benign	Het
Agbl1	A	G	7: 76,433,378 (GRCm38)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,583,186 (GRCm38)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,547,973 (GRCm38)	N18K	probably damaging	Het
Banp	G	A	8: 121,978,685 (GRCm38)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,169,118 (GRCm38)	D601G	probably damaging	Het
C9	T	C	15: 6,445,420 (GRCm38)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,685,804 (GRCm38)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,808,054 (GRCm38)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm38)		probably null	Het
Cdc5l	A	G	17: 45,407,846 (GRCm38)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526 (GRCm38)		probably benign	Het
Eml4	C	T	17: 83,451,056 (GRCm38)	P502S	probably benign	Het
Fsip1	T	C	2: 118,222,444 (GRCm38)	E367G	probably benign	Het
Gja3	T	C	14: 57,036,714 (GRCm38)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,274,190 (GRCm38)		probably benign	Het
Gm7853	A	G	14: 36,089,527 (GRCm38)		noncoding transcript	Het
Gmps	T	G	3: 64,014,263 (GRCm38)	Y562*	probably null	Het
Golga2	C	A	2: 32,306,465 (GRCm38)	P976T	probably benign	Het
Gpr182	T	A	10: 127,750,141 (GRCm38)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,626,795 (GRCm38)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,695,267 (GRCm38)	T516A	probably benign	Het
Hist2h2ab	T	C	3: 96,220,106 (GRCm38)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,619,230 (GRCm38)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496 (GRCm38)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,366,671 (GRCm38)	S231T	probably benign	Het
Kpna7	A	T	5: 144,989,697 (GRCm38)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,904,392 (GRCm38)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm38)	S121G	probably benign	Het
Mppe1	A	G	18: 67,228,011 (GRCm38)		probably null	Het
Muc5b	T	A	7: 141,861,644 (GRCm38)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,308,348 (GRCm38)	N1893K	probably damaging	Het
Myo7a	T	C	7: 98,054,910 (GRCm38)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm38)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934 (GRCm38)		probably null	Het
Nek5	A	T	8: 22,113,632 (GRCm38)	N151K	possibly damaging	Het
Nup93	C	T	8: 94,304,191 (GRCm38)	T305I	probably benign	Het
Oca2	T	A	7: 56,357,155 (GRCm38)	H663Q	probably benign	Het
Optn	T	A	2: 5,024,117 (GRCm38)	H525L	probably damaging	Het
Pdzph1	A	G	17: 58,932,412 (GRCm38)		probably benign	Het
Pikfyve	A	G	1: 65,267,855 (GRCm38)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,430,329 (GRCm38)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,228,133 (GRCm38)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,698 (GRCm38)	R224L	probably benign	Het
Prpf19	A	G	19: 10,897,598 (GRCm38)	T39A	probably benign	Het
Pwwp2b	T	C	7: 139,255,188 (GRCm38)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,425,377 (GRCm38)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,822,358 (GRCm38)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,851,020 (GRCm38)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,809,299 (GRCm38)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm38)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,488,341 (GRCm38)		probably benign	Het
Spata18	A	T	5: 73,666,901 (GRCm38)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,174,453 (GRCm38)		probably null	Het
Tas2r104	G	A	6: 131,685,132 (GRCm38)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,832,177 (GRCm38)		probably benign	Het
Tex15	C	A	8: 33,571,237 (GRCm38)	H232N	probably benign	Het
Tg	A	T	15: 66,674,011 (GRCm38)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776 (GRCm38)		probably null	Het
Trim25	T	A	11: 89,016,621 (GRCm38)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,983,063 (GRCm38)	E54G	probably damaging	Het
Ttn	T	C	2: 76,729,324 (GRCm38)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,830,881 (GRCm38)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Usp13	A	G	3: 32,917,551 (GRCm38)	I727V	probably benign	Het
Vmn2r67	T	A	7: 85,152,042 (GRCm38)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,167,392 (GRCm38)	I220L	probably benign	Het
Wnk4	T	A	11: 101,275,641 (GRCm38)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm38)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,690,213 (GRCm38)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,595,265 (GRCm38)	I60M	probably damaging	Het

Other mutations in Atp6v1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp6v1b2	APN	8	69,088,934 (GRCm38)	splice site	probably null
IGL00908:Atp6v1b2	APN	8	69,096,266 (GRCm38)	missense	probably benign	0.00
IGL01914:Atp6v1b2	APN	8	69,096,280 (GRCm38)	splice site	probably benign
IGL03010:Atp6v1b2	APN	8	69,105,882 (GRCm38)	missense	probably damaging	0.97
IGL03376:Atp6v1b2	APN	8	69,102,159 (GRCm38)	splice site	probably benign
R0127:Atp6v1b2	UTSW	8	69,103,460 (GRCm38)	missense	probably damaging	1.00
R0427:Atp6v1b2	UTSW	8	69,101,432 (GRCm38)	missense	probably damaging	1.00
R0523:Atp6v1b2	UTSW	8	69,109,985 (GRCm38)	missense	possibly damaging	0.52
R1754:Atp6v1b2	UTSW	8	69,101,961 (GRCm38)	missense	probably benign	0.25
R1932:Atp6v1b2	UTSW	8	69,102,807 (GRCm38)	nonsense	probably null
R1954:Atp6v1b2	UTSW	8	69,105,903 (GRCm38)	missense	possibly damaging	0.95
R2228:Atp6v1b2	UTSW	8	69,102,759 (GRCm38)	splice site	probably null
R4448:Atp6v1b2	UTSW	8	69,102,022 (GRCm38)	missense	probably benign
R4738:Atp6v1b2	UTSW	8	69,103,410 (GRCm38)	missense	probably benign
R5243:Atp6v1b2	UTSW	8	69,103,739 (GRCm38)	missense	probably benign	0.07
R5388:Atp6v1b2	UTSW	8	69,101,437 (GRCm38)	missense	probably benign	0.00
R5664:Atp6v1b2	UTSW	8	69,107,620 (GRCm38)	missense	probably damaging	0.99
R5774:Atp6v1b2	UTSW	8	69,101,961 (GRCm38)	missense	probably damaging	0.97
R5894:Atp6v1b2	UTSW	8	69,107,566 (GRCm38)	splice site	probably null
R6015:Atp6v1b2	UTSW	8	69,102,496 (GRCm38)	missense	probably damaging	1.00
R6147:Atp6v1b2	UTSW	8	69,102,482 (GRCm38)	nonsense	probably null
R6217:Atp6v1b2	UTSW	8	69,109,878 (GRCm38)	critical splice acceptor site	probably null
R6636:Atp6v1b2	UTSW	8	69,101,374 (GRCm38)	missense	probably damaging	1.00
R6637:Atp6v1b2	UTSW	8	69,101,374 (GRCm38)	missense	probably damaging	1.00
R7032:Atp6v1b2	UTSW	8	69,088,896 (GRCm38)	missense	probably benign	0.44
R7108:Atp6v1b2	UTSW	8	69,102,501 (GRCm38)	missense	probably damaging	1.00
R7184:Atp6v1b2	UTSW	8	69,102,567 (GRCm38)	missense	possibly damaging	0.55
R7578:Atp6v1b2	UTSW	8	69,103,476 (GRCm38)	missense	probably benign	0.01
R8168:Atp6v1b2	UTSW	8	69,108,331 (GRCm38)	missense	possibly damaging	0.93
R8342:Atp6v1b2	UTSW	8	69,101,383 (GRCm38)	missense	probably benign	0.00
R8380:Atp6v1b2	UTSW	8	69,103,390 (GRCm38)	missense	probably damaging	1.00
R8961:Atp6v1b2	UTSW	8	69,102,762 (GRCm38)	missense	probably benign	0.01
R9100:Atp6v1b2	UTSW	8	69,088,824 (GRCm38)	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