Mutagenetix > Incidental Mutations

Incidental Mutation 'R8168:Atp6v1b2'

633907

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b2

Ensembl Gene

ENSMUSG00000006273

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B2

Synonyms

Atp6b2, HO57

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69088646-69113711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69108331 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 404 (S404P)

Ref Sequence

ENSEMBL: ENSMUSP00000006435 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006435
AA Change: S404P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: S404P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (44/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	A	10: 77,982,944	A150T	probably benign	Het
9430020K01Rik	A	T	18: 4,675,094	D952V	probably benign	Het
AI607873	A	C	1: 173,729,938	S411R	probably benign	Het
Ano4	A	G	10: 88,980,995	I652T	probably damaging	Het
Arhgef1	A	G	7: 24,925,406	T862A	probably benign	Het
Cfap54	A	T	10: 92,908,877	S2170T	unknown	Het
Copa	A	T	1: 172,099,672	H204L	probably damaging	Het
Cwc22	A	C	2: 77,927,271	V171G	probably damaging	Het
D230025D16Rik	C	T	8: 105,248,769	P330L	probably benign	Het
Dock5	A	T	14: 67,770,197		probably null	Het
Flrt1	G	A	19: 7,096,637	L182F	probably damaging	Het
Foxf1	T	C	8: 121,085,162	V255A	probably damaging	Het
Gnptab	G	T	10: 88,419,133	A194S	probably benign	Het
Gzf1	C	T	2: 148,684,766	R386C	probably damaging	Het
H2-Aa	T	A	17: 34,287,721	T16S	possibly damaging	Het
Hdgfrp2	T	C	17: 56,082,282	F52S	probably damaging	Het
Htt	A	G	5: 34,882,956	N2154S	probably benign	Het
Lama3	T	A	18: 12,506,942	W65R	probably null	Het
Mef2c	G	T	13: 83,656,350	L356F	probably damaging	Het
Mrgprb2	A	T	7: 48,552,019	S319R	probably benign	Het
Mtrr	C	T	13: 68,572,613	V288I	probably benign	Het
Myo18a	T	A	11: 77,821,142	I713N	probably damaging	Het
Nelfa	A	T	5: 33,921,907	N107K	possibly damaging	Het
Nim1k	A	T	13: 119,712,752	V202D	probably damaging	Het
Nlrc4	T	C	17: 74,445,211	T726A	probably benign	Het
Olfr1154	T	A	2: 87,903,199	H159L	probably damaging	Het
Olfr1208	T	A	2: 88,896,776	M274L	probably benign	Het
Prdm10	G	A	9: 31,346,967	A514T	probably benign	Het
Prg4	T	A	1: 150,455,850	E357D	unknown	Het
Ptp4a3	T	G	15: 73,756,846	Y152D	probably damaging	Het
Raph1	A	G	1: 60,499,620	C389R	unknown	Het
Rcc1	T	C	4: 132,335,785	E170G	probably benign	Het
Spag17	C	T	3: 100,034,984	T775M	possibly damaging	Het
Srcap	T	A	7: 127,542,523	V1825D	probably damaging	Het
Tex40	A	G	19: 6,922,652	S162P	possibly damaging	Het
Tshr	T	A	12: 91,511,965	H195Q	probably benign	Het
Vmn1r174	A	T	7: 23,754,671	D254V	probably damaging	Het
Vps13a	A	C	19: 16,749,548	I244M	probably benign	Het

Other mutations in Atp6v1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp6v1b2	APN	8	69088934	splice site	probably null
IGL00908:Atp6v1b2	APN	8	69096266	missense	probably benign	0.00
IGL01914:Atp6v1b2	APN	8	69096280	splice site	probably benign
IGL03010:Atp6v1b2	APN	8	69105882	missense	probably damaging	0.97
IGL03376:Atp6v1b2	APN	8	69102159	splice site	probably benign
R0127:Atp6v1b2	UTSW	8	69103460	missense	probably damaging	1.00
R0427:Atp6v1b2	UTSW	8	69101432	missense	probably damaging	1.00
R0523:Atp6v1b2	UTSW	8	69109985	missense	possibly damaging	0.52
R1754:Atp6v1b2	UTSW	8	69101961	missense	probably benign	0.25
R1932:Atp6v1b2	UTSW	8	69102807	nonsense	probably null
R1954:Atp6v1b2	UTSW	8	69105903	missense	possibly damaging	0.95
R2228:Atp6v1b2	UTSW	8	69102759	splice site	probably null
R2229:Atp6v1b2	UTSW	8	69102759	splice site	probably null
R4448:Atp6v1b2	UTSW	8	69102022	missense	probably benign
R4738:Atp6v1b2	UTSW	8	69103410	missense	probably benign
R5243:Atp6v1b2	UTSW	8	69103739	missense	probably benign	0.07
R5388:Atp6v1b2	UTSW	8	69101437	missense	probably benign	0.00
R5664:Atp6v1b2	UTSW	8	69107620	missense	probably damaging	0.99
R5774:Atp6v1b2	UTSW	8	69101961	missense	probably damaging	0.97
R5894:Atp6v1b2	UTSW	8	69107566	splice site	probably null
R6015:Atp6v1b2	UTSW	8	69102496	missense	probably damaging	1.00
R6147:Atp6v1b2	UTSW	8	69102482	nonsense	probably null
R6217:Atp6v1b2	UTSW	8	69109878	critical splice acceptor site	probably null
R6636:Atp6v1b2	UTSW	8	69101374	missense	probably damaging	1.00
R6637:Atp6v1b2	UTSW	8	69101374	missense	probably damaging	1.00
R7032:Atp6v1b2	UTSW	8	69088896	missense	probably benign	0.44
R7108:Atp6v1b2	UTSW	8	69102501	missense	probably damaging	1.00
R7184:Atp6v1b2	UTSW	8	69102567	missense	possibly damaging	0.55
R7578:Atp6v1b2	UTSW	8	69103476	missense	probably benign	0.01
R8342:Atp6v1b2	UTSW	8	69101383	missense	probably benign	0.00
R8380:Atp6v1b2	UTSW	8	69103390	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTAGAAGATAAGGTCCCAGGC -3'
(R):5'- GGCTGCTTTGTTCCAGAGAG -3'

Sequencing Primer
(F):5'- GCCTCACCTAGGGAAACAGTG -3'
(R):5'- TGTTCCAGAGAGTTATTCCAACC -3'

Posted On

2020-07-13