Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Atp6v0c'

223268

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0c

Ensembl Gene

ENSMUSG00000024121

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit C

Synonyms

Atp6l, Atp6c2, H(+)-ATPase (mvp), Atpl-rs1, PL16, proteolipid, Atpl

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24382839-24388652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24383835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 40 (T40K)

Ref Sequence

ENSEMBL: ENSMUSP00000122843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024932] [ENSMUST00000040735] [ENSMUST00000098862] [ENSMUST00000129523] [ENSMUST00000148541] [ENSMUST00000150647] [ENSMUST00000202853]

AlphaFold

P63082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024932
AA Change: T34K

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024932
Gene: ENSMUSG00000024121
AA Change: T34K

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	14	79	5.6e-17	PFAM
Pfam:ATP-synt_C	90	155	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040735

SMART Domains

Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	62	401	7.2e-18	PFAM
Pfam:Amidohydro_3	327	404	5.3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098862
AA Change: T34K

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111059
Gene: ENSMUSG00000024121
AA Change: T34K

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	15	77	1.1e-14	PFAM
Pfam:ATP-synt_C	92	153	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129523

SMART Domains

Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	1	71	1.5e-7	PFAM
Pfam:Amidohydro_4	22	176	2.5e-9	PFAM
Pfam:Amidohydro_1	27	134	2.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131766

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148541
AA Change: T34K

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121464
Gene: ENSMUSG00000024121
AA Change: T34K

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	14	79	5.2e-17	PFAM
Pfam:ATP-synt_C	90	150	1.2e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150647
AA Change: T40K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122843
Gene: ENSMUSG00000024121
AA Change: T40K

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	32	85	5.1e-15	PFAM
transmembrane domain	93	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202853
AA Change: H329Q

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169
AA Change: H329Q

Domain	Start	End	E-Value	Type
TBC	42	259	8.8e-6	SMART
Blast:TLDc	283	321	4e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156061

Meta Mutation Damage Score

0.9258

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx55	T	A	5: 124,704,503 (GRCm39)	V370E	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,850,609 (GRCm39)	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,382,737 (GRCm39)	T158A	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Npas2	T	C	1: 39,377,276 (GRCm39)	V546A	probably benign	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Plagl1	C	A	10: 13,004,402 (GRCm39)		probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,860,223 (GRCm39)		probably benign	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	Het

Other mutations in Atp6v0c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7332:Atp6v0c	UTSW	17	24,388,198 (GRCm39)	missense	probably benign
R8133:Atp6v0c	UTSW	17	24,383,553 (GRCm39)	missense	possibly damaging	0.94
R9504:Atp6v0c	UTSW	17	24,383,493 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CACTTCACCTGGGAGGAAAG -3'
(R):5'- AGTCTGGTTTCACAGCAAACG -3'

Sequencing Primer
(F):5'- GAGGAAAGGCCCAGCACTC -3'
(R):5'- GGTTTCACAGCAAACGAGCCC -3'

Posted On

2014-08-25