Mutagenetix > Incidental Mutation

Incidental Mutation 'R7505:Atp6v1c2'

585918

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c2

Ensembl Gene

ENSMUSG00000020566

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C2

Synonyms

1110038G14Rik

MMRRC Submission

045578-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R7505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17334722-17375700 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 17347724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000095820] [ENSMUST00000140751] [ENSMUST00000153090] [ENSMUST00000156727] [ENSMUST00000221129] [ENSMUST00000222103]

AlphaFold

Q99L60

Predicted Effect

probably null
Transcript: ENSMUST00000020884

SMART Domains

Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	427	3.9e-156	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000095820

SMART Domains

Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	417	3.4e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140751

SMART Domains

Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	133	4.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153090

SMART Domains

Protein: ENSMUSP00000119686
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	134	3e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000156727

SMART Domains

Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	1	347	2.5e-135	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000221129

Predicted Effect

probably benign
Transcript: ENSMUST00000222103

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,033,260 (GRCm39)	N719Y	possibly damaging	Het
Adamts2	T	C	11: 50,687,347 (GRCm39)	I1058T	probably benign	Het
Alb	T	A	5: 90,617,368 (GRCm39)	Y356N	probably damaging	Het
Ankrd52	A	G	10: 128,225,924 (GRCm39)	N971D	probably damaging	Het
Atp6v1h	A	T	1: 5,194,561 (GRCm39)	I247L	probably benign	Het
Cacna1s	C	T	1: 136,013,187 (GRCm39)	R593*	probably null	Het
Cacna2d3	C	T	14: 28,767,501 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,575,231 (GRCm39)	G2D	probably benign	Het
Cebpe	G	T	14: 54,948,113 (GRCm39)	N243K	probably damaging	Het
Celf2	A	T	2: 6,629,511 (GRCm39)	M136K	probably damaging	Het
Cep290	A	G	10: 100,352,127 (GRCm39)	I778V	probably benign	Het
Col22a1	A	T	15: 71,671,248 (GRCm39)	C1592*	probably null	Het
Cpne2	A	T	8: 95,275,094 (GRCm39)	N34I	possibly damaging	Het
Cps1	A	G	1: 67,219,240 (GRCm39)	N860S	probably benign	Het
Disp2	T	G	2: 118,621,569 (GRCm39)	L767R	probably damaging	Het
Eif1ad19	A	T	12: 87,740,270 (GRCm39)	N96K	probably benign	Het
Evpl	A	G	11: 116,117,813 (GRCm39)		probably null	Het
F7	A	T	8: 13,078,745 (GRCm39)	N59Y	possibly damaging	Het
Fam98a	A	T	17: 75,845,233 (GRCm39)	H504Q	unknown	Het
Fbxo4	G	A	15: 4,000,903 (GRCm39)	R270C	probably benign	Het
Fcgbp	T	C	7: 27,789,099 (GRCm39)	V555A	probably damaging	Het
Fgf4	T	C	7: 144,415,498 (GRCm39)	V86A	possibly damaging	Het
Fpgt	G	T	3: 154,792,413 (GRCm39)	A538D	possibly damaging	Het
Gars1	A	G	6: 55,029,162 (GRCm39)	T181A	probably benign	Het
Gask1a	G	C	9: 121,805,483 (GRCm39)	G425R	probably benign	Het
Gbx2	A	G	1: 89,856,455 (GRCm39)	S312P	probably benign	Het
Gm29735	C	T	7: 141,710,327 (GRCm39)	C175Y	unknown	Het
Gm7995	A	G	14: 42,132,314 (GRCm39)	T49A		Het
Hnrnpk	A	G	13: 58,547,783 (GRCm39)	M27T	probably benign	Het
Idh3b	A	G	2: 130,126,147 (GRCm39)	S20P	probably benign	Het
Idh3b	G	C	2: 130,126,153 (GRCm39)	R18G	probably benign	Het
Ighg2b	T	A	12: 113,268,600 (GRCm39)	T354S		Het
Lrfn2	T	A	17: 49,403,479 (GRCm39)	M534K	probably benign	Het
Mcpt8	G	A	14: 56,320,548 (GRCm39)	A127V	probably benign	Het
Msi2	A	T	11: 88,304,743 (GRCm39)	N176K	possibly damaging	Het
Mtr	G	T	13: 12,236,362 (GRCm39)	D621E	probably benign	Het
Nlrp5	T	A	7: 23,106,925 (GRCm39)	I63N	probably benign	Het
Nol6	T	C	4: 41,120,352 (GRCm39)	D455G	probably damaging	Het
Nrde2	A	T	12: 100,098,757 (GRCm39)	S637T	probably benign	Het
Ntn4	G	T	10: 93,543,146 (GRCm39)	G291W	probably damaging	Het
Or13a28	C	A	7: 140,217,965 (GRCm39)	T117K	probably damaging	Het
Or4d10	T	A	19: 12,051,969 (GRCm39)	E9V	possibly damaging	Het
Otof	T	A	5: 30,528,364 (GRCm39)	T1865S	probably benign	Het
Plec	A	T	15: 76,065,394 (GRCm39)	S1559T	unknown	Het
Plekhm1	C	T	11: 103,270,855 (GRCm39)		probably null	Het
Plin4	T	A	17: 56,416,357 (GRCm39)	Q49L	possibly damaging	Het
Polrmt	A	G	10: 79,573,717 (GRCm39)	F995L	probably benign	Het
Polrmt	A	G	10: 79,579,010 (GRCm39)		probably null	Het
Pramel16	A	G	4: 143,676,273 (GRCm39)	I277T	possibly damaging	Het
Pramel28	C	T	4: 143,691,556 (GRCm39)	C389Y	probably benign	Het
Rims1	T	C	1: 22,573,077 (GRCm39)	T375A	possibly damaging	Het
Ryr3	A	T	2: 112,542,774 (GRCm39)	M3145K	probably damaging	Het
S100a11	A	G	3: 93,433,339 (GRCm39)	K61R	probably benign	Het
Sar1a	A	G	10: 61,527,073 (GRCm39)	T164A	probably benign	Het
Sec31b	C	T	19: 44,532,146 (GRCm39)	A25T	probably damaging	Het
Smpd2	A	G	10: 41,363,350 (GRCm39)	V371A	probably benign	Het
Speer1g	T	A	5: 11,181,135 (GRCm39)	Y141N	possibly damaging	Het
Spg11	A	T	2: 121,905,832 (GRCm39)	L1271*	probably null	Het
Svep1	T	C	4: 58,115,862 (GRCm39)	T944A	possibly damaging	Het
Taf6	A	T	5: 138,178,207 (GRCm39)	C431*	probably null	Het
Tdrd6	A	G	17: 43,938,570 (GRCm39)	V826A	not run	Het
Tent4a	G	T	13: 69,655,047 (GRCm39)	P476T	probably damaging	Het
Tmem132a	A	G	19: 10,836,037 (GRCm39)	V831A	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,685 (GRCm39)	D458A	probably damaging	Het
Trpv5	A	G	6: 41,651,590 (GRCm39)	I196T	probably damaging	Het
Ttn	T	A	2: 76,608,898 (GRCm39)	D17706V	probably damaging	Het
Uimc1	T	C	13: 55,223,444 (GRCm39)	Y276C	probably damaging	Het
Usp24	T	A	4: 106,236,276 (GRCm39)	I988K	probably damaging	Het
Vmn2r74	T	A	7: 85,606,279 (GRCm39)	R356*	probably null	Het
Wdr37	A	T	13: 8,869,971 (GRCm39)	H429Q	probably damaging	Het
Wwc2	A	T	8: 48,333,185 (GRCm39)	L277Q	probably damaging	Het
Zscan12	T	A	13: 21,552,756 (GRCm39)	N193K	possibly damaging	Het

Other mutations in Atp6v1c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Atp6v1c2	APN	12	17,358,294 (GRCm39)	missense	probably damaging	1.00
IGL01520:Atp6v1c2	APN	12	17,347,754 (GRCm39)	missense	probably damaging	1.00
IGL02121:Atp6v1c2	APN	12	17,341,441 (GRCm39)	missense	possibly damaging	0.65
IGL02990:Atp6v1c2	APN	12	17,344,741 (GRCm39)	missense	probably damaging	1.00
IGL03243:Atp6v1c2	APN	12	17,339,122 (GRCm39)	missense	probably benign	0.07
R0077:Atp6v1c2	UTSW	12	17,371,613 (GRCm39)	missense	probably damaging	1.00
R0239:Atp6v1c2	UTSW	12	17,344,676 (GRCm39)	critical splice donor site	probably null
R0239:Atp6v1c2	UTSW	12	17,344,676 (GRCm39)	critical splice donor site	probably null
R0358:Atp6v1c2	UTSW	12	17,334,961 (GRCm39)	splice site	probably benign
R0373:Atp6v1c2	UTSW	12	17,338,169 (GRCm39)	missense	probably damaging	1.00
R0536:Atp6v1c2	UTSW	12	17,357,509 (GRCm39)	splice site	probably null
R1164:Atp6v1c2	UTSW	12	17,358,317 (GRCm39)	missense	probably damaging	1.00
R1400:Atp6v1c2	UTSW	12	17,339,131 (GRCm39)	missense	probably benign	0.13
R2133:Atp6v1c2	UTSW	12	17,371,612 (GRCm39)	missense	probably benign	0.03
R4695:Atp6v1c2	UTSW	12	17,351,208 (GRCm39)	missense	probably benign	0.02
R4825:Atp6v1c2	UTSW	12	17,339,061 (GRCm39)	missense	probably benign	0.02
R5215:Atp6v1c2	UTSW	12	17,341,659 (GRCm39)	missense	probably benign	0.08
R6034:Atp6v1c2	UTSW	12	17,357,501 (GRCm39)	missense	possibly damaging	0.79
R6034:Atp6v1c2	UTSW	12	17,357,501 (GRCm39)	missense	possibly damaging	0.79
R6196:Atp6v1c2	UTSW	12	17,351,187 (GRCm39)	nonsense	probably null
R7059:Atp6v1c2	UTSW	12	17,339,005 (GRCm39)	nonsense	probably null
R7559:Atp6v1c2	UTSW	12	17,351,215 (GRCm39)	missense	probably benign	0.40
R7980:Atp6v1c2	UTSW	12	17,371,613 (GRCm39)	missense	probably damaging	1.00
R8290:Atp6v1c2	UTSW	12	17,338,153 (GRCm39)	missense	possibly damaging	0.63
R8853:Atp6v1c2	UTSW	12	17,351,148 (GRCm39)	missense	possibly damaging	0.58
R8990:Atp6v1c2	UTSW	12	17,341,647 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTTGGGGTCTAACATCCC -3'
(R):5'- AAGTGTCCATGGATGCTTGG -3'

Sequencing Primer
(F):5'- GAGAAACGCCATGCTCCTCTG -3'
(R):5'- CCATGGATGCTTGGTGAGATG -3'

Posted On

2019-10-18