Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Atp6v1b2'

546384

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b2

Ensembl Gene

ENSMUSG00000006273

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B2

Synonyms

HO57, Atp6b2

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69541388-69566370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69541548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 35 (V35E)

Ref Sequence

ENSEMBL: ENSMUSP00000006435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006435] [ENSMUST00000037478] [ENSMUST00000148856]

AlphaFold

P62814

Predicted Effect

probably benign
Transcript: ENSMUST00000006435
AA Change: V35E

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: V35E

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

probably benign
Transcript: ENSMUST00000037478

SMART Domains

Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	430	3.7e-34	PFAM
Pfam:MFS_1	302	508	9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148856

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	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
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
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'- ACTCTGGTCAGCTCCCTATG -3'
(R):5'- AGTCACGGAAAAGCTCACG -3'

Sequencing Primer
(F):5'- AGAGCTCCAGTCACGAGTCTG -3'
(R):5'- GCTCACGCAAAGCTGGAG -3'

Posted On

2019-05-13