Incidental Mutation 'R3889:Atp6v0a2'
| ID |
310180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0a2
|
| Ensembl Gene |
ENSMUSG00000038023 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A2 |
| Synonyms |
Tj6, ATP6a2, Atp6n2, 8430408C20Rik, V-ATPase a2, TJ6s |
| MMRRC Submission |
040801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R3889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124777203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 168
(R168Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037865]
[ENSMUST00000198382]
|
| AlphaFold |
P15920 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037865
AA Change: R168Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: R168Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
842 |
3.3e-299 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197931
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198382
AA Change: R168Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143284
Gene: ENSMUSG00000038023
AA Change: R168Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:V_ATPase_I
|
26 |
178 |
1.5e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200292
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a subunit of vacuolar ATPase, a multimeric enzyme that localizes to intracellular vesicles and to the plasma membrane of specialized cells. The encoded protein is a component of the V(0) domain, which functions in proton translocation across membranes. Function of this gene is important in fetal-specific immune suppression during pregnancy. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| 7530416G11Rik |
A |
G |
15: 85,378,292 (GRCm39) |
F117S |
unknown |
Het |
| Adamts5 |
A |
G |
16: 85,665,009 (GRCm39) |
W652R |
probably damaging |
Het |
| Adamtsl4 |
G |
T |
3: 95,588,167 (GRCm39) |
Q607K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,417,936 (GRCm39) |
|
probably benign |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,345 (GRCm39) |
T387A |
possibly damaging |
Het |
| Cct3 |
A |
T |
3: 88,228,334 (GRCm39) |
Q472L |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,250,011 (GRCm39) |
E623K |
probably damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,533,752 (GRCm39) |
C263S |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
| Elp1 |
G |
A |
4: 56,759,852 (GRCm39) |
R1138C |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,431,327 (GRCm39) |
F526L |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fat2 |
C |
A |
11: 55,172,589 (GRCm39) |
G2708V |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,925,499 (GRCm39) |
E853K |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Fsd1 |
A |
G |
17: 56,300,893 (GRCm39) |
K251E |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,080,230 (GRCm39) |
Y197F |
possibly damaging |
Het |
| Hip1r |
C |
T |
5: 124,139,854 (GRCm39) |
R986* |
probably null |
Het |
| Igkv9-120 |
A |
G |
6: 68,027,362 (GRCm39) |
D92G |
probably damaging |
Het |
| Il6 |
A |
G |
5: 30,223,066 (GRCm39) |
K128E |
possibly damaging |
Het |
| Irf4 |
T |
C |
13: 30,945,473 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,831,681 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
C |
T |
10: 7,524,814 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
C |
T |
4: 141,369,301 (GRCm39) |
|
probably benign |
Het |
| Prkca |
C |
T |
11: 107,870,066 (GRCm39) |
G450R |
probably damaging |
Het |
| Psme3 |
C |
A |
11: 101,210,282 (GRCm39) |
P82T |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,426,561 (GRCm39) |
I262T |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Serpina1e |
A |
T |
12: 103,917,132 (GRCm39) |
V179E |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,380,777 (GRCm39) |
Q685R |
possibly damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc25a45 |
C |
T |
19: 5,930,661 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Spen |
A |
G |
4: 141,205,192 (GRCm39) |
V1145A |
unknown |
Het |
| Stub1 |
T |
C |
17: 26,050,276 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,923 (GRCm39) |
I176V |
probably benign |
Het |
| Tacr2 |
G |
A |
10: 62,100,865 (GRCm39) |
C325Y |
probably damaging |
Het |
| Tbc1d17 |
T |
A |
7: 44,495,362 (GRCm39) |
H154L |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,658,258 (GRCm39) |
C54S |
possibly damaging |
Het |
| Tpsb2 |
G |
A |
17: 25,586,457 (GRCm39) |
V181I |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,274,939 (GRCm39) |
N146S |
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,289 (GRCm39) |
I196V |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,877 (GRCm39) |
I484V |
probably benign |
Het |
|
| Other mutations in Atp6v0a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Atp6v0a2
|
APN |
5 |
124,798,841 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01310:Atp6v0a2
|
APN |
5 |
124,783,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01944:Atp6v0a2
|
APN |
5 |
124,774,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02044:Atp6v0a2
|
APN |
5 |
124,783,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02400:Atp6v0a2
|
APN |
5 |
124,798,849 (GRCm39) |
missense |
probably benign |
|
|
IGL02650:Atp6v0a2
|
APN |
5 |
124,789,426 (GRCm39) |
splice site |
probably benign |
|
|
IGL02687:Atp6v0a2
|
APN |
5 |
124,791,206 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02965:Atp6v0a2
|
APN |
5 |
124,767,267 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03049:Atp6v0a2
|
APN |
5 |
124,789,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Atp6v0a2
|
APN |
5 |
124,791,171 (GRCm39) |
splice site |
probably benign |
|
|
IGL03198:Atp6v0a2
|
APN |
5 |
124,789,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
alkaline
|
UTSW |
5 |
124,796,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
basic
|
UTSW |
5 |
124,789,392 (GRCm39) |
nonsense |
probably null |
|
|
electronegative
|
UTSW |
5 |
124,784,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
energizer
|
UTSW |
5 |
124,797,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Everready
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Lithium
|
UTSW |
5 |
124,791,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Atp6v0a2
|
UTSW |
5 |
124,790,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Atp6v0a2
|
UTSW |
5 |
124,795,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1540:Atp6v0a2
|
UTSW |
5 |
124,784,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Atp6v0a2
|
UTSW |
5 |
124,795,552 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2921:Atp6v0a2
|
UTSW |
5 |
124,794,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2922:Atp6v0a2
|
UTSW |
5 |
124,794,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2923:Atp6v0a2
|
UTSW |
5 |
124,794,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3055:Atp6v0a2
|
UTSW |
5 |
124,765,209 (GRCm39) |
unclassified |
probably benign |
|
|
R3893:Atp6v0a2
|
UTSW |
5 |
124,777,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Atp6v0a2
|
UTSW |
5 |
124,789,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Atp6v0a2
|
UTSW |
5 |
124,784,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Atp6v0a2
|
UTSW |
5 |
124,784,667 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5219:Atp6v0a2
|
UTSW |
5 |
124,790,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5247:Atp6v0a2
|
UTSW |
5 |
124,790,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Atp6v0a2
|
UTSW |
5 |
124,784,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5620:Atp6v0a2
|
UTSW |
5 |
124,783,909 (GRCm39) |
nonsense |
probably null |
|
|
R5830:Atp6v0a2
|
UTSW |
5 |
124,779,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Atp6v0a2
|
UTSW |
5 |
124,793,391 (GRCm39) |
missense |
probably benign |
|
|
R5903:Atp6v0a2
|
UTSW |
5 |
124,789,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Atp6v0a2
|
UTSW |
5 |
124,767,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6425:Atp6v0a2
|
UTSW |
5 |
124,790,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Atp6v0a2
|
UTSW |
5 |
124,779,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Atp6v0a2
|
UTSW |
5 |
124,789,225 (GRCm39) |
splice site |
probably null |
|
|
R6994:Atp6v0a2
|
UTSW |
5 |
124,791,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Atp6v0a2
|
UTSW |
5 |
124,783,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Atp6v0a2
|
UTSW |
5 |
124,796,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Atp6v0a2
|
UTSW |
5 |
124,784,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Atp6v0a2
|
UTSW |
5 |
124,789,392 (GRCm39) |
nonsense |
probably null |
|
|
R7714:Atp6v0a2
|
UTSW |
5 |
124,775,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:Atp6v0a2
|
UTSW |
5 |
124,791,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7748:Atp6v0a2
|
UTSW |
5 |
124,793,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Atp6v0a2
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7778:Atp6v0a2
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7824:Atp6v0a2
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7833:Atp6v0a2
|
UTSW |
5 |
124,782,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Atp6v0a2
|
UTSW |
5 |
124,779,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7977:Atp6v0a2
|
UTSW |
5 |
124,797,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7987:Atp6v0a2
|
UTSW |
5 |
124,797,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8118:Atp6v0a2
|
UTSW |
5 |
124,789,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8728:Atp6v0a2
|
UTSW |
5 |
124,796,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8765:Atp6v0a2
|
UTSW |
5 |
124,793,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Atp6v0a2
|
UTSW |
5 |
124,784,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Atp6v0a2
|
UTSW |
5 |
124,797,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Atp6v0a2
|
UTSW |
5 |
124,796,138 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9300:Atp6v0a2
|
UTSW |
5 |
124,789,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9360:Atp6v0a2
|
UTSW |
5 |
124,767,259 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9601:Atp6v0a2
|
UTSW |
5 |
124,790,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTGTTCACCTGTCAGG -3'
(R):5'- AGAGGTCCCTTCGGCTTTTAG -3'
Sequencing Primer
(F):5'- GTTCACCTGTCAGGCTTGGC -3'
(R):5'- GCTACATCAATGCTGCATGACTAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation