Mutagenetix > Incidental Mutation

Incidental Mutation 'R0845:Atp6v0d2'

77313

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0d2

Ensembl Gene

ENSMUSG00000028238

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit D2

Synonyms

1620401A02Rik

MMRRC Submission

039024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19876838-19922566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19880055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 281 (V281I)

Ref Sequence

ENSEMBL: ENSMUSP00000029900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029900]

AlphaFold

Q80SY3

Predicted Effect

probably benign
Transcript: ENSMUST00000029900
AA Change: V281I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: V281I

Domain	Start	End	E-Value	Type
Pfam:vATP-synt_AC39	16	346	6.2e-113	PFAM

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 93.2%

Validation Efficiency

96% (45/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	G	T	7: 28,612,855 (GRCm39)	A116E	probably damaging	Het
Adamtsl3	A	G	7: 82,225,204 (GRCm39)	I338V	probably damaging	Het
Akap13	T	G	7: 75,375,128 (GRCm39)	V1920G	probably damaging	Het
AW209491	T	G	13: 14,811,607 (GRCm39)	S153R	probably damaging	Het
Brd7	A	T	8: 89,069,395 (GRCm39)	Y433*	probably null	Het
Bub1b	A	G	2: 118,440,457 (GRCm39)	H187R	probably damaging	Het
Clstn2	T	A	9: 97,452,681 (GRCm39)	Q242L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Comt	T	C	16: 18,226,711 (GRCm39)	Y225C	probably damaging	Het
Ctbs	T	A	3: 146,160,862 (GRCm39)	L143Q	probably damaging	Het
Ctsw	T	C	19: 5,515,489 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,194,194 (GRCm39)	I435T	probably damaging	Het
Dmxl1	T	C	18: 50,026,469 (GRCm39)	F1859S	probably damaging	Het
Glud1	A	G	14: 34,051,351 (GRCm39)		probably benign	Het
Gm8220	A	G	14: 44,524,248 (GRCm39)	H71R	probably damaging	Het
Gnb1l	A	G	16: 18,371,223 (GRCm39)	E238G	probably benign	Het
H2-T23	T	C	17: 36,341,475 (GRCm39)	H332R	probably benign	Het
Itga5	T	A	15: 103,259,196 (GRCm39)	T744S	probably benign	Het
Larp1	A	G	11: 57,938,576 (GRCm39)	E453G	probably benign	Het
Lrrk2	C	A	15: 91,640,165 (GRCm39)	P1570Q	probably benign	Het
Lrsam1	C	T	2: 32,843,455 (GRCm39)	R150Q	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Msln	T	C	17: 25,969,770 (GRCm39)	Y320C	probably damaging	Het
Mtbp	T	C	15: 55,426,486 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,404,183 (GRCm39)		probably null	Het
Mup21	A	G	4: 62,068,547 (GRCm39)	S40P	probably damaging	Het
Myh8	T	C	11: 67,177,090 (GRCm39)	V414A	probably damaging	Het
P2rx5	T	C	11: 73,056,400 (GRCm39)	I108T	probably damaging	Het
Paqr9	T	C	9: 95,442,793 (GRCm39)	L261P	probably damaging	Het
Pde5a	A	G	3: 122,522,980 (GRCm39)	D29G	probably benign	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Pih1d1	A	G	7: 44,809,106 (GRCm39)	D230G	probably benign	Het
Pik3r1	G	T	13: 101,822,772 (GRCm39)	D643E	probably benign	Het
Rnf207	A	G	4: 152,396,521 (GRCm39)		probably benign	Het
Septin9	T	C	11: 117,247,151 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,401,479 (GRCm39)	S105T	probably benign	Het
Slc8a1	A	G	17: 81,745,177 (GRCm39)	S676P	probably benign	Het
Srrm4	C	T	5: 116,582,944 (GRCm39)		probably null	Het
Tcn2	T	A	11: 3,869,349 (GRCm39)	D391V	probably benign	Het
Tmem131	T	C	1: 36,855,303 (GRCm39)	T808A	probably damaging	Het
Ubqln3	G	T	7: 103,791,275 (GRCm39)	Q272K	probably damaging	Het
Unc79	T	C	12: 103,139,703 (GRCm39)		probably benign	Het
Xpo6	G	A	7: 125,728,715 (GRCm39)		probably benign	Het
Zfp667	A	T	7: 6,309,091 (GRCm39)	K586N	possibly damaging	Het

Other mutations in Atp6v0d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Atp6v0d2	APN	4	19,881,436 (GRCm39)	missense	probably damaging	1.00
IGL01759:Atp6v0d2	APN	4	19,878,335 (GRCm39)	missense	probably damaging	0.98
IGL02006:Atp6v0d2	APN	4	19,878,325 (GRCm39)	missense	probably damaging	1.00
IGL02515:Atp6v0d2	APN	4	19,880,063 (GRCm39)	missense	possibly damaging	0.63
IGL03100:Atp6v0d2	APN	4	19,910,586 (GRCm39)	critical splice donor site	probably null
IGL02796:Atp6v0d2	UTSW	4	19,887,324 (GRCm39)	missense	probably damaging	1.00
R0083:Atp6v0d2	UTSW	4	19,880,001 (GRCm39)	splice site	probably benign
R0133:Atp6v0d2	UTSW	4	19,910,578 (GRCm39)	splice site	probably benign
R0371:Atp6v0d2	UTSW	4	19,880,033 (GRCm39)	missense	possibly damaging	0.92
R1279:Atp6v0d2	UTSW	4	19,878,298 (GRCm39)	missense	probably benign	0.02
R1541:Atp6v0d2	UTSW	4	19,910,645 (GRCm39)	missense	probably damaging	1.00
R1802:Atp6v0d2	UTSW	4	19,922,366 (GRCm39)	critical splice donor site	probably null
R3417:Atp6v0d2	UTSW	4	19,888,829 (GRCm39)	unclassified	probably benign
R3833:Atp6v0d2	UTSW	4	19,922,395 (GRCm39)	missense	probably damaging	1.00
R3884:Atp6v0d2	UTSW	4	19,910,677 (GRCm39)	missense	probably damaging	1.00
R5158:Atp6v0d2	UTSW	4	19,878,292 (GRCm39)	missense	probably damaging	1.00
R6284:Atp6v0d2	UTSW	4	19,922,605 (GRCm39)	splice site	probably null
R7290:Atp6v0d2	UTSW	4	19,880,060 (GRCm39)	missense	probably benign	0.44
R7341:Atp6v0d2	UTSW	4	19,887,330 (GRCm39)	missense	possibly damaging	0.46
R7832:Atp6v0d2	UTSW	4	19,922,400 (GRCm39)	missense	probably benign	0.18
R8231:Atp6v0d2	UTSW	4	19,881,451 (GRCm39)	missense	probably damaging	1.00
R8757:Atp6v0d2	UTSW	4	19,910,649 (GRCm39)	missense	probably benign
R8759:Atp6v0d2	UTSW	4	19,910,649 (GRCm39)	missense	probably benign
R8811:Atp6v0d2	UTSW	4	19,922,397 (GRCm39)	missense	probably benign	0.05
R9227:Atp6v0d2	UTSW	4	19,878,374 (GRCm39)	missense	probably benign
R9334:Atp6v0d2	UTSW	4	19,890,695 (GRCm39)	missense	probably damaging	1.00
R9378:Atp6v0d2	UTSW	4	19,922,377 (GRCm39)	missense	probably benign	0.02
R9716:Atp6v0d2	UTSW	4	19,890,834 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAAAAGCACGAACTGTCCTGATG -3'
(R):5'- AAATGTAGCTTTTGCCCTGCACTTG -3'

Sequencing Primer
(F):5'- CACGAACTGTCCTGATGAAATAG -3'
(R):5'- AGGGAGAATTTCTACCATCTCTTGG -3'

Posted On

2013-10-16