Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Atp6v0d2'

709761

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0d2

Ensembl Gene

ENSMUSG00000028238

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit D2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19876841-19922605 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19922377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 41 (T41S)

Ref Sequence

ENSEMBL: ENSMUSP00000029900 (fasta)

Gene Model

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

AlphaFold

Q80SY3

Predicted Effect

probably benign
Transcript: ENSMUST00000029900
AA Change: T41S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: T41S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,323,616 (GRCm38)	K1047E	possibly damaging	Het
Aadacl2fm1	A	G	3: 59,931,689 (GRCm38)	T11A	possibly damaging	Het
Abca14	A	T	7: 120,207,968 (GRCm38)	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,439,082 (GRCm38)	M978K	probably benign	Het
Adamts3	A	T	5: 89,700,410 (GRCm38)	C684*	probably null	Het
Adnp2	T	C	18: 80,129,422 (GRCm38)	T591A	probably benign	Het
Aff4	A	T	11: 53,372,479 (GRCm38)	T109S	probably damaging	Het
Agmo	A	G	12: 37,243,721 (GRCm38)	I48V	probably benign	Het
Appl1	G	A	14: 26,927,827 (GRCm38)	R581*	probably null	Het
Armc9	A	T	1: 86,262,044 (GRCm38)	M714L	probably benign	Het
Bin1	A	T	18: 32,419,868 (GRCm38)	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,433,702 (GRCm38)	D159G	probably benign	Het
Bsn	G	A	9: 108,107,655 (GRCm38)	P295S	possibly damaging	Het
Cbx6	A	G	15: 79,828,405 (GRCm38)	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,056,097 (GRCm38)	K108R	probably benign	Het
Ces1d	T	A	8: 93,186,096 (GRCm38)	N238I	probably damaging	Het
Col7a1	C	T	9: 108,958,640 (GRCm38)	Q663*	probably null	Het
Cpsf3	T	C	12: 21,308,038 (GRCm38)	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,840,454 (GRCm38)	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,761,601 (GRCm38)	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,096,673 (GRCm38)	W301R	probably damaging	Het
Dnah6	T	A	6: 73,212,530 (GRCm38)	N45I	probably benign	Het
Dnah7a	A	T	1: 53,582,617 (GRCm38)	H1116Q	probably benign	Het
Dntt	A	G	19: 41,038,917 (GRCm38)	N141S	probably benign	Het
Fbxl13	T	C	5: 21,585,203 (GRCm38)	N281D	probably damaging	Het
Frem2	A	T	3: 53,651,989 (GRCm38)	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,461,674 (GRCm38)	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,157,129 (GRCm38)	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,061,862 (GRCm38)	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,570,754 (GRCm38)	E187G	probably damaging	Het
Ighm	T	A	12: 113,422,590 (GRCm38)	T47S		Het
Itgb7	A	C	15: 102,227,396 (GRCm38)		probably null	Het
Kif16b	A	T	2: 142,619,818 (GRCm38)	C1293*	probably null	Het
Klf11	C	T	12: 24,655,044 (GRCm38)	R166C	probably benign	Het
Lca5l	T	A	16: 96,176,012 (GRCm38)	Q198L	probably damaging	Het
Lnx2	A	T	5: 147,024,370 (GRCm38)	M584K	probably benign	Het
Lpp	A	T	16: 24,721,987 (GRCm38)	M1L	probably benign	Het
Lrig3	A	G	10: 125,997,084 (GRCm38)	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Megf8	A	T	7: 25,340,415 (GRCm38)		probably null	Het
Myh1	A	C	11: 67,202,433 (GRCm38)	T117P	probably damaging	Het
Neb	C	A	2: 52,244,101 (GRCm38)	R3290L	possibly damaging	Het
Neb	A	C	2: 52,247,292 (GRCm38)	V220G		Het
Nktr	A	T	9: 121,748,198 (GRCm38)	K444I	probably damaging	Het
Nol11	A	T	11: 107,173,679 (GRCm38)	M483K	probably benign	Het
Npy1r	C	A	8: 66,704,209 (GRCm38)	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940 (GRCm38)	T37A	probably benign	Het
Olfr1224-ps1	T	C	2: 89,157,055 (GRCm38)	N40S	probably damaging	Het
Or10ad1b	A	G	15: 98,227,039 (GRCm38)	L204P	possibly damaging	Het
Or2y3	G	A	17: 38,082,165 (GRCm38)	A271V	possibly damaging	Het
Or51v8	A	T	7: 103,670,182 (GRCm38)	M283K	probably damaging	Het
Or5w14	C	A	2: 87,711,079 (GRCm38)	V276F	possibly damaging	Het
Or8a1b	A	G	9: 37,712,177 (GRCm38)	I34T	probably damaging	Het
Or8b37	G	A	9: 38,047,479 (GRCm38)	V86M	possibly damaging	Het
Palld	C	T	8: 61,516,657 (GRCm38)	R1211H	unknown	Het
Pcdha3	A	G	18: 36,947,231 (GRCm38)	D342G	probably damaging	Het
Pclo	G	A	5: 14,765,863 (GRCm38)	V1266I		Het
Pcnx4	T	C	12: 72,555,890 (GRCm38)	Y309H	probably damaging	Het
Pde8a	C	T	7: 81,332,871 (GRCm38)	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,150,811 (GRCm38)	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,704,128 (GRCm38)	A225V	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110 (GRCm38)		probably benign	Het
Plat	A	G	8: 22,775,583 (GRCm38)	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627 (GRCm38)	C274*	probably null	Het
Poglut1	A	G	16: 38,526,771 (GRCm38)	F345L	possibly damaging	Het
Ppara	A	T	15: 85,777,636 (GRCm38)	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,420,288 (GRCm38)	W79R	probably damaging	Het
Prdm1	C	T	10: 44,440,154 (GRCm38)	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,342,362 (GRCm38)		probably benign	Het
Slc31a1	T	A	4: 62,388,606 (GRCm38)	M133K	probably damaging	Het
Smg1	G	A	7: 118,178,775 (GRCm38)	Q1309*	probably null	Het
Sos1	T	C	17: 80,453,810 (GRCm38)	I152M	probably damaging	Het
Stk4	A	T	2: 164,110,216 (GRCm38)		probably benign	Het
Syne1	T	G	10: 5,250,954 (GRCm38)	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,208,840 (GRCm38)	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475 (GRCm38)	M548K	probably benign	Het
Twf1	G	A	15: 94,585,455 (GRCm38)	T124I	probably damaging	Het
Tyro3	G	A	2: 119,812,167 (GRCm38)	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282 (GRCm38)	I1370K	unknown	Het
Usp40	A	G	1: 87,957,310 (GRCm38)	W939R	probably damaging	Het
Vamp8	A	T	6: 72,385,571 (GRCm38)	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,427,866 (GRCm38)	H201R	possibly damaging	Het
Whrn	T	C	4: 63,431,842 (GRCm38)	H546R	probably benign	Het
Yeats2	T	C	16: 20,214,478 (GRCm38)	V1036A	probably benign	Het
Zfp352	T	G	4: 90,224,338 (GRCm38)	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 53,774,554 (GRCm38)		probably benign	Het
Zfp462	T	A	4: 55,011,510 (GRCm38)	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 11,066,265 (GRCm38)	H232Q	probably benign	Het

Other mutations in Atp6v0d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Atp6v0d2	APN	4	19,881,436 (GRCm38)	missense	probably damaging	1.00
IGL01759:Atp6v0d2	APN	4	19,878,335 (GRCm38)	missense	probably damaging	0.98
IGL02006:Atp6v0d2	APN	4	19,878,325 (GRCm38)	missense	probably damaging	1.00
IGL02515:Atp6v0d2	APN	4	19,880,063 (GRCm38)	missense	possibly damaging	0.63
IGL03100:Atp6v0d2	APN	4	19,910,586 (GRCm38)	critical splice donor site	probably null
IGL02796:Atp6v0d2	UTSW	4	19,887,324 (GRCm38)	missense	probably damaging	1.00
R0083:Atp6v0d2	UTSW	4	19,880,001 (GRCm38)	splice site	probably benign
R0133:Atp6v0d2	UTSW	4	19,910,578 (GRCm38)	splice site	probably benign
R0371:Atp6v0d2	UTSW	4	19,880,033 (GRCm38)	missense	possibly damaging	0.92
R0845:Atp6v0d2	UTSW	4	19,880,055 (GRCm38)	missense	probably benign	0.02
R1279:Atp6v0d2	UTSW	4	19,878,298 (GRCm38)	missense	probably benign	0.02
R1541:Atp6v0d2	UTSW	4	19,910,645 (GRCm38)	missense	probably damaging	1.00
R1802:Atp6v0d2	UTSW	4	19,922,366 (GRCm38)	critical splice donor site	probably null
R3417:Atp6v0d2	UTSW	4	19,888,829 (GRCm38)	unclassified	probably benign
R3833:Atp6v0d2	UTSW	4	19,922,395 (GRCm38)	missense	probably damaging	1.00
R3884:Atp6v0d2	UTSW	4	19,910,677 (GRCm38)	missense	probably damaging	1.00
R5158:Atp6v0d2	UTSW	4	19,878,292 (GRCm38)	missense	probably damaging	1.00
R6284:Atp6v0d2	UTSW	4	19,922,605 (GRCm38)	splice site	probably null
R7290:Atp6v0d2	UTSW	4	19,880,060 (GRCm38)	missense	probably benign	0.44
R7341:Atp6v0d2	UTSW	4	19,887,330 (GRCm38)	missense	possibly damaging	0.46
R7832:Atp6v0d2	UTSW	4	19,922,400 (GRCm38)	missense	probably benign	0.18
R8231:Atp6v0d2	UTSW	4	19,881,451 (GRCm38)	missense	probably damaging	1.00
R8757:Atp6v0d2	UTSW	4	19,910,649 (GRCm38)	missense	probably benign
R8759:Atp6v0d2	UTSW	4	19,910,649 (GRCm38)	missense	probably benign
R8811:Atp6v0d2	UTSW	4	19,922,397 (GRCm38)	missense	probably benign	0.05
R9227:Atp6v0d2	UTSW	4	19,878,374 (GRCm38)	missense	probably benign
R9334:Atp6v0d2	UTSW	4	19,890,695 (GRCm38)	missense	probably damaging	1.00
R9716:Atp6v0d2	UTSW	4	19,890,834 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAGATATTTTACTTCTCACCACC -3'
(R):5'- TGACTATCAGCTGAGCGACC -3'

Sequencing Primer
(F):5'- CAAGGTCCCTAAACCACAGG -3'
(R):5'- ACACTTTCCCGGACCAGG -3'

Posted On

2022-04-18