Incidental Mutation 'IGL02990:Atp6v1c2'
| ID |
406892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1c2
|
| Ensembl Gene |
ENSMUSG00000020566 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit C2 |
| Synonyms |
1110038G14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
IGL02990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17334722-17375700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17344741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 169
(V169I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020884]
[ENSMUST00000095820]
[ENSMUST00000140751]
[ENSMUST00000153090]
[ENSMUST00000156727]
[ENSMUST00000221129]
[ENSMUST00000222103]
|
| AlphaFold |
Q99L60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020884
AA Change: V179I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: V179I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
427 |
3.9e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095820
AA Change: V169I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: V169I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
417 |
3.4e-165 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140751
AA Change: C180Y
|
| SMART Domains |
Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566
AA Change: C180Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
133 |
4.1e-49 |
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 damaging
Transcript: ENSMUST00000156727
AA Change: V99I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: V99I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
1 |
347 |
2.5e-135 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221129
AA Change: V169I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222103
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
T |
11: 69,054,032 (GRCm39) |
V205F |
probably benign |
Het |
| Ampd3 |
T |
C |
7: 110,407,170 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
| Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,345,835 (GRCm39) |
T216A |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,411,050 (GRCm39) |
S24P |
probably damaging |
Het |
| Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
| Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,745,159 (GRCm39) |
M958V |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
| Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
| Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
| Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
| Or4c115 |
T |
C |
2: 88,927,473 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
| Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
| Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
| Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
| Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation