Mutagenetix > Incidental Mutation

Incidental Mutation 'R7559:Atp6v1c2'

584970

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c2

Ensembl Gene

ENSMUSG00000020566

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C2

Synonyms

1110038G14Rik

MMRRC Submission

045653-MU

Accession Numbers

Essential gene?

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

Stock #

R7559 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17334722-17375700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 17351215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 105 (I105M)

Ref Sequence

ENSEMBL: ENSMUSP00000020884 (fasta)

Gene Model

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

AlphaFold

Q99L60

Predicted Effect

probably benign
Transcript: ENSMUST00000020884
AA Change: I105M

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: I105M

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

Predicted Effect

silent
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

silent
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

silent
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

silent
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

silent
Transcript: ENSMUST00000221129

Predicted Effect

probably benign
Transcript: ENSMUST00000222103

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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
Adap1	C	A	5: 139,265,295 (GRCm39)	R206L	probably damaging	Het
Adcy3	A	G	12: 4,248,440 (GRCm39)	K501E	probably benign	Het
Agl	T	C	3: 116,545,764 (GRCm39)	D679G		Het
Ankrd10	A	T	8: 11,662,548 (GRCm39)	V395D	probably damaging	Het
Ano5	A	G	7: 51,224,636 (GRCm39)	I531V	probably damaging	Het
Apol9a	T	A	15: 77,288,761 (GRCm39)	H202L	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Coro1b	T	C	19: 4,200,220 (GRCm39)		probably null	Het
D930020B18Rik	A	G	10: 121,492,131 (GRCm39)		probably benign	Het
Dcst2	T	C	3: 89,276,021 (GRCm39)	F384S	possibly damaging	Het
Ddx39a	T	A	8: 84,447,595 (GRCm39)	F147I	possibly damaging	Het
Drosha	A	G	15: 12,842,508 (GRCm39)	E393G	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fam20c	G	T	5: 138,778,954 (GRCm39)	E287D	possibly damaging	Het
Flnc	T	A	6: 29,459,009 (GRCm39)	D2463E	probably damaging	Het
Flt4	A	T	11: 49,535,198 (GRCm39)	I1209F	possibly damaging	Het
Foxp1	T	C	6: 98,922,521 (GRCm39)	D437G	unknown	Het
Fras1	T	C	5: 96,888,713 (GRCm39)	V2753A	possibly damaging	Het
Ftsj3	T	C	11: 106,143,813 (GRCm39)	D277G	possibly damaging	Het
Gad1	T	C	2: 70,394,256 (GRCm39)		probably null	Het
Gal3st2c	A	G	1: 93,937,075 (GRCm39)	Y340C	probably damaging	Het
Gbp9	A	G	5: 105,232,975 (GRCm39)	F226L	probably damaging	Het
Gm11992	C	T	11: 9,002,747 (GRCm39)	P37S	possibly damaging	Het
Gm19668	G	T	10: 77,634,572 (GRCm39)	C132*	probably null	Het
Hdac3	A	T	18: 38,078,569 (GRCm39)	F139I	possibly damaging	Het
Hectd4	A	G	5: 121,453,573 (GRCm39)		probably null	Het
Helz	T	A	11: 107,491,104 (GRCm39)	S162T	possibly damaging	Het
Hspb6	C	A	7: 30,253,712 (GRCm39)	S75Y	probably damaging	Het
Il17rb	T	A	14: 29,719,000 (GRCm39)	I361F	probably damaging	Het
Iqsec3	A	T	6: 121,364,739 (GRCm39)	V850D	probably damaging	Het
Knl1	A	G	2: 118,924,487 (GRCm39)	E1840G	possibly damaging	Het
Lamc3	A	G	2: 31,812,380 (GRCm39)	K939R	probably benign	Het
Lmo7	C	T	14: 102,124,662 (GRCm39)	R496*	probably null	Het
Lsm14a	A	T	7: 34,052,826 (GRCm39)	C374*	probably null	Het
Luc7l	T	C	17: 26,474,089 (GRCm39)	L49P	probably damaging	Het
Mdga2	A	C	12: 66,520,003 (GRCm39)	C988G	probably damaging	Het
Mtf1	T	C	4: 124,713,999 (GRCm39)	V136A	probably damaging	Het
Myo7b	T	A	18: 32,116,413 (GRCm39)	I1016F	probably benign	Het
Nadsyn1	C	A	7: 143,361,804 (GRCm39)	A306S	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nr4a1	T	C	15: 101,168,780 (GRCm39)	V272A	probably damaging	Het
Opcml	A	T	9: 28,814,620 (GRCm39)	T291S	probably benign	Het
Or13a24	T	A	7: 140,154,356 (GRCm39)	C97S	probably damaging	Het
Or52u1	C	A	7: 104,237,087 (GRCm39)	H25Q	probably damaging	Het
Or56b1b	C	T	7: 108,164,763 (GRCm39)	A80T	probably damaging	Het
Osbp2	C	G	11: 3,662,493 (GRCm39)	K196N	probably damaging	Het
Otoa	T	C	7: 120,743,149 (GRCm39)	V792A	probably damaging	Het
Pcmtd1	A	G	1: 7,239,766 (GRCm39)	D245G	probably damaging	Het
Pcnx1	T	C	12: 82,039,896 (GRCm39)	V1428A	unknown	Het
Pik3r4	A	G	9: 105,555,352 (GRCm39)	H1103R	probably benign	Het
Pjvk	C	T	2: 76,486,154 (GRCm39)	H185Y	probably benign	Het
Pkd1l3	T	C	8: 110,351,072 (GRCm39)	V639A	probably benign	Het
Pklr	T	C	3: 89,050,365 (GRCm39)	S405P	probably damaging	Het
Pla2g12a	T	A	3: 129,672,569 (GRCm39)	Y68N	probably damaging	Het
Proz	A	G	8: 13,113,455 (GRCm39)	H92R	probably benign	Het
Sec23ip	G	T	7: 128,379,074 (GRCm39)	V844F	possibly damaging	Het
Sema3f	A	G	9: 107,561,777 (GRCm39)	V520A	possibly damaging	Het
Serpinb12	A	G	1: 106,881,453 (GRCm39)	I197V	probably damaging	Het
Sim2	A	T	16: 93,910,218 (GRCm39)	I207F	possibly damaging	Het
Slc15a2	C	T	16: 36,572,259 (GRCm39)	V702I	probably benign	Het
Slc35f4	T	C	14: 49,541,732 (GRCm39)	I341V	probably benign	Het
Spam1	A	G	6: 24,800,452 (GRCm39)	Y397C	probably damaging	Het
Spire1	A	T	18: 67,634,187 (GRCm39)	M417K	probably benign	Het
Srcap	T	C	7: 127,129,722 (GRCm39)	S515P	unknown	Het
Tfrc	T	A	16: 32,440,235 (GRCm39)		probably null	Het
Topors	A	G	4: 40,261,401 (GRCm39)	S628P	unknown	Het
Trim71	T	C	9: 114,342,110 (GRCm39)	Y724C	probably damaging	Het
Ttn	C	T	2: 76,623,199 (GRCm39)	V15413I	probably damaging	Het
Vmn1r21	A	T	6: 57,821,227 (GRCm39)	N72K	probably damaging	Het
Vmn2r80	A	T	10: 79,030,459 (GRCm39)	M762L	probably benign	Het
Wdr62	A	G	7: 29,970,198 (GRCm39)	I203T	probably 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
R7505:Atp6v1c2	UTSW	12	17,347,724 (GRCm39)	splice site	probably null
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'- TACATAGGGTCACTCAGGGG -3'
(R):5'- TTTGAACTGCTCCCTCATGG -3'

Sequencing Primer
(F):5'- TCACTCAGGGGCTAGCATC -3'
(R):5'- ATGGAGCATCTGCACTTCCAGAG -3'

Posted On

2019-10-17