Mutagenetix > Incidental Mutation

Incidental Mutation 'R4825:Atp6v1c2'

371444

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c2

Ensembl Gene

ENSMUSG00000020566

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C2

Synonyms

1110038G14Rik

MMRRC Submission

042441-MU

Accession Numbers

Essential gene?

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

Stock #

R4825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17334722-17375700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17339061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 230 (G230D)

Ref Sequence

ENSEMBL: ENSMUSP00000117139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000057288] [ENSMUST00000095820] [ENSMUST00000140751] [ENSMUST00000156727] [ENSMUST00000221129]

AlphaFold

Q99L60

Predicted Effect

probably benign
Transcript: ENSMUST00000020884
AA Change: G310D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: G310D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057288

SMART Domains

Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	31	134	5.6e-32	PFAM
low complexity region	143	159	N/A	INTRINSIC
Pfam:Thioredoxin	166	272	7.4e-33	PFAM
low complexity region	427	445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095820
AA Change: G300D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: G300D

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: G230D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: G230D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221129

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	A	11: 109,682,498 (GRCm39)	L229F	probably benign	Het
A930002H24Rik	A	C	17: 64,170,603 (GRCm39)	S62A	unknown	Het
Abca12	T	A	1: 71,341,844 (GRCm39)	Q1039L	possibly damaging	Het
Adgrg5	T	A	8: 95,668,362 (GRCm39)	F476I	possibly damaging	Het
Alms1	A	G	6: 85,655,227 (GRCm39)	K2789E	probably damaging	Het
Arrdc2	G	A	8: 71,291,921 (GRCm39)		probably null	Het
Atp2b1	T	A	10: 98,845,426 (GRCm39)	I743K	probably damaging	Het
AU040320	G	A	4: 126,685,586 (GRCm39)	C54Y	probably damaging	Het
BC024139	C	T	15: 76,004,517 (GRCm39)	V680I	possibly damaging	Het
Bckdhb	A	G	9: 83,870,958 (GRCm39)	D156G	probably damaging	Het
Bltp3a	G	A	17: 28,096,368 (GRCm39)	A107T	probably damaging	Het
Canx	T	A	11: 50,199,636 (GRCm39)	D143V	probably benign	Het
Ccdc180	T	A	4: 45,912,794 (GRCm39)	V591E	possibly damaging	Het
Ccno	T	C	13: 113,124,633 (GRCm39)	S68P	probably benign	Het
Cdc45	C	T	16: 18,603,613 (GRCm39)	E527K	probably damaging	Het
Cep290	T	A	10: 100,324,210 (GRCm39)	D14E	probably damaging	Het
Cgnl1	A	G	9: 71,537,806 (GRCm39)	V1238A	probably benign	Het
Ciz1	C	T	2: 32,261,753 (GRCm39)	A455V	probably damaging	Het
Coro2b	T	A	9: 62,361,905 (GRCm39)	Y86F	probably benign	Het
Csf2ra	C	T	19: 61,214,990 (GRCm39)	R158Q	probably benign	Het
Cubn	A	T	2: 13,330,036 (GRCm39)	I2615N	probably damaging	Het
Dhx8	C	T	11: 101,628,996 (GRCm39)	R129*	probably null	Het
Disc1	T	A	8: 125,862,041 (GRCm39)	M471K	possibly damaging	Het
Dmxl2	G	T	9: 54,311,325 (GRCm39)	L1799I	probably benign	Het
Dnah2	A	G	11: 69,314,031 (GRCm39)	S4108P	probably damaging	Het
Ecpas	G	A	4: 58,850,911 (GRCm39)	L421F	probably damaging	Het
Ehmt2	C	G	17: 35,125,940 (GRCm39)	P211R	probably benign	Het
Eif4g3	A	G	4: 137,921,392 (GRCm39)	D1557G	probably benign	Het
Epha5	T	C	5: 84,381,699 (GRCm39)	D384G	probably damaging	Het
Etl4	A	G	2: 20,811,738 (GRCm39)	I1274V	probably damaging	Het
Fhip1a	G	A	3: 85,580,739 (GRCm39)	P489S	possibly damaging	Het
Fip1l1	G	A	5: 74,748,866 (GRCm39)		probably null	Het
Fubp1	T	C	3: 151,923,527 (GRCm39)		probably null	Het
Glul	T	C	1: 153,778,790 (GRCm39)	V33A	probably benign	Het
Gm4846	A	G	1: 166,319,237 (GRCm39)	F167S	probably damaging	Het
Heatr6	T	A	11: 83,649,148 (GRCm39)	L168M	probably damaging	Het
Hif1a	T	A	12: 73,979,175 (GRCm39)	I233N	probably damaging	Het
Hivep2	T	A	10: 14,007,063 (GRCm39)	H1220Q	possibly damaging	Het
Igkv8-21	T	C	6: 70,292,410 (GRCm39)	I9M	probably benign	Het
Izumo1	T	A	7: 45,274,411 (GRCm39)	C62*	probably null	Het
Jakmip3	G	A	7: 138,628,495 (GRCm39)	E424K	probably damaging	Het
Klhl2	A	G	8: 65,205,847 (GRCm39)	V358A	probably damaging	Het
Klk10	C	G	7: 43,433,022 (GRCm39)	D139E	probably damaging	Het
Klk14	T	C	7: 43,341,500 (GRCm39)	C51R	probably damaging	Het
Klk1b5	T	G	7: 43,494,814 (GRCm39)	I99S	probably damaging	Het
L3hypdh	T	C	12: 72,124,167 (GRCm39)	T258A	probably benign	Het
Lrp5	A	G	19: 3,664,292 (GRCm39)	Y812H	probably damaging	Het
Lrrc40	T	A	3: 157,766,967 (GRCm39)	L474*	probably null	Het
Mkks	A	T	2: 136,722,575 (GRCm39)	M194K	probably benign	Het
Mmp20	A	G	9: 7,654,121 (GRCm39)	D347G	probably damaging	Het
Mmp27	A	G	9: 7,581,195 (GRCm39)	E460G	probably damaging	Het
Mms22l	T	C	4: 24,536,226 (GRCm39)	F605S	probably damaging	Het
Mpzl3	A	G	9: 44,979,627 (GRCm39)	S193G	probably benign	Het
Muc4	A	T	16: 32,570,565 (GRCm39)	T542S	probably benign	Het
Muc5b	T	C	7: 141,422,202 (GRCm39)	L4446P	possibly damaging	Het
Mxi1	C	A	19: 53,358,769 (GRCm39)	S131*	probably null	Het
Nanog	G	T	6: 122,690,299 (GRCm39)	A210S	probably benign	Het
Nrcam	C	T	12: 44,622,769 (GRCm39)	Q988*	probably null	Het
Nsg1	C	A	5: 38,316,391 (GRCm39)		probably benign	Het
Ogfod3	G	A	11: 121,086,027 (GRCm39)	A189V	probably benign	Het
Or10g9b	A	T	9: 39,918,038 (GRCm39)	M69K	possibly damaging	Het
Or12e9	T	A	2: 87,202,432 (GRCm39)	C185*	probably null	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c122	T	C	2: 89,079,034 (GRCm39)		probably null	Het
Or4c35	G	A	2: 89,808,497 (GRCm39)	C125Y	probably damaging	Het
Or51ai2	T	C	7: 103,586,710 (GRCm39)	V41A	probably benign	Het
Or52b4i	T	A	7: 102,191,587 (GRCm39)	V148E	possibly damaging	Het
Or5b111	A	T	19: 13,291,684 (GRCm39)		probably null	Het
Or7e165	T	G	9: 19,694,872 (GRCm39)	S148A	possibly damaging	Het
Or8b53	A	T	9: 38,667,703 (GRCm39)	T240S	probably damaging	Het
Orc3	A	T	4: 34,571,774 (GRCm39)	M665K	possibly damaging	Het
Pabpc1	A	G	15: 36,597,255 (GRCm39)	S591P	probably damaging	Het
Pacc1	A	T	1: 191,073,040 (GRCm39)	I154F	probably damaging	Het
Parp6	T	A	9: 59,531,645 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,912 (GRCm39)	M974V	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,713 (GRCm39)	V727E	possibly damaging	Het
Pex5l	T	C	3: 33,047,134 (GRCm39)	E272G	probably damaging	Het
Pglyrp2	G	T	17: 32,637,235 (GRCm39)	N264K	probably benign	Het
Phxr4	T	A	9: 13,342,882 (GRCm39)		probably benign	Het
Piezo2	A	G	18: 63,278,025 (GRCm39)	F293S	probably damaging	Het
Pkhd1	T	C	1: 20,607,625 (GRCm39)	D1077G	probably damaging	Het
Plekhs1	A	G	19: 56,461,700 (GRCm39)		probably null	Het
Prex1	G	T	2: 166,427,777 (GRCm39)	C788*	probably null	Het
Prrt3	A	T	6: 113,475,099 (GRCm39)	M41K	probably benign	Het
Ptgir	T	C	7: 16,642,768 (GRCm39)	V326A	probably damaging	Het
Ptprg	T	A	14: 12,220,654 (GRCm38)	D455E	probably damaging	Het
Ptpru	T	A	4: 131,526,914 (GRCm39)	Q686L	probably benign	Het
Pxdc1	G	T	13: 34,814,343 (GRCm39)	T190K	probably benign	Het
Rap1b	A	T	10: 117,654,487 (GRCm39)	C118S	probably benign	Het
Rapgef2	T	C	3: 78,990,534 (GRCm39)	M915V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpe65	C	T	3: 159,330,318 (GRCm39)	A495V	probably benign	Het
Samd15	A	G	12: 87,247,608 (GRCm39)	T98A	possibly damaging	Het
Sdk1	T	G	5: 141,568,049 (GRCm39)	D82E	probably benign	Het
Slc26a7	T	C	4: 14,546,309 (GRCm39)	D340G	probably benign	Het
Slc6a15	T	A	10: 103,253,921 (GRCm39)	M619K	probably benign	Het
Slc7a4	C	A	16: 17,392,385 (GRCm39)	D350Y	probably damaging	Het
Slk	T	G	19: 47,608,395 (GRCm39)	N449K	probably benign	Het
Spta1	A	T	1: 174,071,608 (GRCm39)		probably null	Het
Sptbn5	A	T	2: 119,886,374 (GRCm39)		probably benign	Het
Srd5a2	A	T	17: 74,354,800 (GRCm39)	V8D	probably benign	Het
Srgap3	G	A	6: 112,704,271 (GRCm39)	A906V	probably benign	Het
Stab2	A	T	10: 86,783,011 (GRCm39)	M679K	probably benign	Het
Stk3	T	C	15: 35,000,054 (GRCm39)	I291V	probably benign	Het
Supt6	T	A	11: 78,098,960 (GRCm39)	Q1637L	possibly damaging	Het
Svil	T	C	18: 5,114,564 (GRCm39)	F2047S	probably damaging	Het
Swsap1	A	G	9: 21,867,284 (GRCm39)	E76G	probably benign	Het
Syndig1	G	T	2: 149,741,473 (GRCm39)	G20C	probably damaging	Het
Synj2bp	A	T	12: 81,548,926 (GRCm39)	N104K	probably damaging	Het
Synpo2	T	A	3: 122,908,068 (GRCm39)	D416V	probably damaging	Het
Tacc3	G	T	5: 33,829,357 (GRCm39)	C620F	probably damaging	Het
Tanc1	A	G	2: 59,529,766 (GRCm39)	E19G	probably damaging	Het
Tars3	C	T	7: 65,297,302 (GRCm39)	A139V	probably benign	Het
Tbc1d22a	T	A	15: 86,235,935 (GRCm39)	C365S	probably damaging	Het
Tdpoz2	T	C	3: 93,559,381 (GRCm39)	H197R	possibly damaging	Het
Tha1	A	T	11: 117,760,205 (GRCm39)	N300K	probably damaging	Het
Tm6sf1	T	A	7: 81,515,008 (GRCm39)	F70L	probably damaging	Het
Tmem132b	T	A	5: 125,860,497 (GRCm39)	S581T	probably benign	Het
Tnfsf13	G	T	11: 69,576,075 (GRCm39)	S4*	probably null	Het
Tonsl	G	A	15: 76,517,448 (GRCm39)	S757L	probably benign	Het
Trem2	G	T	17: 48,658,719 (GRCm39)	R161S	possibly damaging	Het
Trpm2	A	T	10: 77,777,007 (GRCm39)	V430E	probably damaging	Het
Ttc14	T	A	3: 33,855,518 (GRCm39)	D154E	possibly damaging	Het
Ugt2b37	T	C	5: 87,398,498 (GRCm39)	M313V	possibly damaging	Het
Vmn2r24	A	G	6: 123,792,739 (GRCm39)	I689V	probably benign	Het
Wdr76	A	G	2: 121,372,975 (GRCm39)	T601A	probably benign	Het
Xirp1	T	C	9: 119,846,069 (GRCm39)	D938G	possibly damaging	Het
Zfp608	A	T	18: 55,031,041 (GRCm39)	D966E	probably benign	Het
Zfp957	A	G	14: 79,451,796 (GRCm39)	M1T	probably null	Het
Zkscan16	A	T	4: 58,957,809 (GRCm39)	H697L	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
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
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'- AGGACAGCAGGATTCTAGGC -3'
(R):5'- TTGCCACACCCTTCTGTGAG -3'

Sequencing Primer
(F):5'- CAGGATTCTAGGCTCCAGTTTCAG -3'
(R):5'- ACCCTTCTGTGAGCAGGGATTC -3'

Posted On

2016-03-01