Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Atp6v1c2'

403436

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c2

Ensembl Gene

ENSMUSG00000020566

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C2

Synonyms

1110038G14Rik

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

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

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17334722-17375700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17341659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 244 (E244G)

Ref Sequence

ENSEMBL: ENSMUSP00000020884 (fasta)

Gene Model

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

AlphaFold

Q99L60

Predicted Effect

probably benign
Transcript: ENSMUST00000020884
AA Change: E244G

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: E244G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095820
AA Change: E234G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: E234G

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: ENSMUST00000156727
AA Change: E164G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: E164G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221129
AA Change: E234G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.1751

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnaaf5	G	A	5: 139,147,632 (GRCm39)	V399I	probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Gimap8	A	T	6: 48,628,017 (GRCm39)	Y258F	possibly damaging	Het
Glmn	A	G	5: 107,709,752 (GRCm39)	C351R	probably benign	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Iars2	T	C	1: 185,026,966 (GRCm39)	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,105,053 (GRCm39)	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Slf2	T	G	19: 44,936,476 (GRCm39)	L707R	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	probably benign	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
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
R7505:Atp6v1c2	UTSW	12	17,347,724 (GRCm39)	splice site	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'- AGCAACCTGGTCATCTCCTC -3'
(R):5'- AAGGCTGAAGCATATGCCACC -3'

Sequencing Primer
(F):5'- AACCTGGTCATCTCCTCCCTTTC -3'
(R):5'- AGGCCCATGGAACCTGGTTG -3'

Posted On

2016-07-22