Mutagenetix > Incidental Mutations

Incidental Mutation 'R6034:Atp6v1c2'

480571

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c2

Ensembl Gene

ENSMUSG00000020566

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C2

Synonyms

MMRRC Submission

044206-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17284721-17329359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17307500 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 95 (G95V)

Ref Sequence

ENSEMBL: ENSMUSP00000020884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000095820] [ENSMUST00000127185] [ENSMUST00000140751] [ENSMUST00000143131] [ENSMUST00000153090] [ENSMUST00000156727] [ENSMUST00000221129] [ENSMUST00000222103]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020884
AA Change: G95V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: G95V

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

Predicted Effect

probably benign
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: ENSMUST00000127185

SMART Domains

Protein: ENSMUSP00000118635
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	1	63	1.1e-23	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: ENSMUST00000143131

SMART Domains

Protein: ENSMUSP00000117993
Gene: ENSMUSG00000020566

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	70	5.8e-26	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 benign
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 benign
Transcript: ENSMUST00000221129

Predicted Effect

probably benign
Transcript: ENSMUST00000222103

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.4%
20x: 87.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,721,903	G80V	unknown	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Atad2	A	T	15: 58,108,563	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,731,907		probably null	Het
Birc6	T	A	17: 74,615,283	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,575,832	E597G	probably benign	Het
Ccdc129	T	A	6: 55,967,681	D462E	possibly damaging	Het
Ccdc40	A	G	11: 119,243,072	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354	R587K	probably benign	Het
Cdipt	T	G	7: 126,978,325	V81G	probably damaging	Het
Cfh	T	C	1: 140,163,131	K40E	probably damaging	Het
Col4a3bp	A	C	13: 96,609,800	I236L	probably benign	Het
Cps1	T	A	1: 67,157,713		probably null	Het
Dnah7c	A	T	1: 46,457,258	D101V	probably benign	Het
Fastkd3	T	A	13: 68,583,610	W17R	probably damaging	Het
H2-Ob	T	C	17: 34,241,218	V30A	probably damaging	Het
Hist1h1e	A	G	13: 23,622,313	L62P	probably damaging	Het
Hmgxb3	T	A	18: 61,132,522	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,677,712	I255N	probably damaging	Het
Imp4	A	G	1: 34,443,456	D91G	probably damaging	Het
Kcnip4	G	T	5: 48,390,941	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,242,134	L259P	probably benign	Het
Lipf	T	C	19: 33,964,889	I73T	probably benign	Het
Lsm7	T	C	10: 80,852,908		probably null	Het
Luzp2	T	A	7: 55,167,224	L141M	probably damaging	Het
Malrd1	T	A	2: 15,845,326	V1252E	possibly damaging	Het
Map10	T	C	8: 125,672,466	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,607,040		probably benign	Het
Mpp2	T	C	11: 102,061,634	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,823,834		probably benign	Het
Myo5c	A	T	9: 75,255,905	T339S	probably benign	Het
Naa15	A	G	3: 51,442,821	D163G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1303	T	A	2: 111,814,357	Y123F	probably damaging	Het
Oosp2	A	G	19: 11,651,515	F74S	probably damaging	Het
Pard3	C	G	8: 127,064,327		probably benign	Het
Pcdha1	T	A	18: 36,930,598	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,762,548	T224A	possibly damaging	Het
Phf12	A	G	11: 78,018,069	N325S	probably benign	Het
Prom1	T	A	5: 44,044,408		probably null	Het
Raet1e	A	G	10: 22,182,091	*252W	probably null	Het
Sap130	T	C	18: 31,689,406	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,552,939	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,750,203	T101I	possibly damaging	Het
Selenoo	A	G	15: 89,099,343	K529R	probably benign	Het
Slc22a15	A	G	3: 101,862,919	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,482,981	S339T	probably benign	Het
Stard13	A	T	5: 151,095,500		probably null	Het
Synm	A	G	7: 67,734,905	V561A	probably damaging	Het
Tc2n	A	T	12: 101,651,201		probably null	Het
Ugt2b36	T	A	5: 87,081,518	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,008,869	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,771,373	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,295,280	G185C	probably damaging	Het
Zfp563	G	A	17: 33,104,961	A177T	probably damaging	Het

Other mutations in Atp6v1c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Atp6v1c2	APN	12	17308293	missense	probably damaging	1.00
IGL01520:Atp6v1c2	APN	12	17297753	missense	probably damaging	1.00
IGL02121:Atp6v1c2	APN	12	17291440	missense	possibly damaging	0.65
IGL02990:Atp6v1c2	APN	12	17294740	missense	probably damaging	1.00
IGL03243:Atp6v1c2	APN	12	17289121	missense	probably benign	0.07
R0077:Atp6v1c2	UTSW	12	17321612	missense	probably damaging	1.00
R0239:Atp6v1c2	UTSW	12	17294675	critical splice donor site	probably null
R0239:Atp6v1c2	UTSW	12	17294675	critical splice donor site	probably null
R0358:Atp6v1c2	UTSW	12	17284960	splice site	probably benign
R0373:Atp6v1c2	UTSW	12	17288168	missense	probably damaging	1.00
R0536:Atp6v1c2	UTSW	12	17307508	splice site	probably null
R1164:Atp6v1c2	UTSW	12	17308316	missense	probably damaging	1.00
R1400:Atp6v1c2	UTSW	12	17289130	missense	probably benign	0.13
R2133:Atp6v1c2	UTSW	12	17321611	missense	probably benign	0.03
R4695:Atp6v1c2	UTSW	12	17301207	missense	probably benign	0.02
R4825:Atp6v1c2	UTSW	12	17289060	missense	probably benign	0.02
R5215:Atp6v1c2	UTSW	12	17291658	missense	probably benign	0.08
R6034:Atp6v1c2	UTSW	12	17307500	missense	possibly damaging	0.79
R6196:Atp6v1c2	UTSW	12	17301186	nonsense	probably null
R7059:Atp6v1c2	UTSW	12	17289004	nonsense	probably null
R7505:Atp6v1c2	UTSW	12	17297723	splice site	probably null
R7559:Atp6v1c2	UTSW	12	17301214	missense	probably benign	0.40

Predicted Primers

Posted On

2017-06-26