Incidental Mutation 'R6034:Atp6v1c2'
ID |
480571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp6v1c2
|
Ensembl Gene |
ENSMUSG00000020566 |
Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit C2 |
Synonyms |
1110038G14Rik |
MMRRC Submission |
044206-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R6034 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
17334722-17375700 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 17357501 bp (GRCm39)
|
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]
[ENSMUST00000221129]
[ENSMUST00000222103]
[ENSMUST00000156727]
|
AlphaFold |
Q99L60 |
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: ENSMUST00000221129
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222103
|
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 |
|
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: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
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 |
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 |
|
Posted On |
2017-06-26 |