Incidental Mutation 'R9601:Atp6v0a2'
| ID |
726346 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124790257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 480
(G480D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037865]
[ENSMUST00000198382]
|
| AlphaFold |
P15920 |
| PDB Structure |
NMR solution structure of peptide a2N(1-17) from Mus musculus V-ATPase [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037865
AA Change: G480D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: G480D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
842 |
3.3e-299 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198382
|
| SMART Domains |
Protein: ENSMUSP00000143284
Gene: ENSMUSG00000038023
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:V_ATPase_I
|
26 |
178 |
1.5e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
C |
14: 8,049,808 (GRCm38) |
L246S |
possibly damaging |
Het |
| Ahcyl |
A |
G |
16: 45,975,035 (GRCm39) |
I114T |
probably benign |
Het |
| Arhgap22 |
C |
A |
14: 33,020,727 (GRCm39) |
H107N |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,731,847 (GRCm39) |
T2064A |
possibly damaging |
Het |
| Bop1 |
T |
A |
15: 76,338,688 (GRCm39) |
N449I |
probably benign |
Het |
| C8g |
C |
T |
2: 25,388,916 (GRCm39) |
|
probably null |
Het |
| Camp |
T |
G |
9: 109,677,504 (GRCm39) |
T110P |
|
Het |
| Ccdc141 |
T |
C |
2: 76,885,073 (GRCm39) |
T523A |
possibly damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,094,598 (GRCm39) |
I578N |
probably damaging |
Het |
| Ccdc187 |
C |
T |
2: 26,143,445 (GRCm39) |
A1298T |
possibly damaging |
Het |
| Cdc20 |
C |
T |
4: 118,290,716 (GRCm39) |
W428* |
probably null |
Het |
| Chd9 |
A |
T |
8: 91,732,360 (GRCm39) |
R1293* |
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,453,310 (GRCm39) |
G505S |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,369,763 (GRCm39) |
W382C |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,482,835 (GRCm39) |
N739K |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,508,217 (GRCm39) |
I1243T |
probably damaging |
Het |
| Col12a1 |
T |
G |
9: 79,525,034 (GRCm39) |
D2709A |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,511,999 (GRCm39) |
|
probably null |
Het |
| Ctsd |
C |
A |
7: 141,936,373 (GRCm39) |
G143C |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,025,461 (GRCm39) |
V69A |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,175,054 (GRCm39) |
I485L |
probably benign |
Het |
| Cyp4a29 |
T |
C |
4: 115,105,772 (GRCm39) |
V158A |
probably damaging |
Het |
| Dbx1 |
A |
T |
7: 49,282,403 (GRCm39) |
D267E |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,544,531 (GRCm39) |
Y224C |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,666,578 (GRCm39) |
C596S |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,805 (GRCm39) |
V1590I |
possibly damaging |
Het |
| Fgd2 |
G |
A |
17: 29,593,860 (GRCm39) |
V456I |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,026,401 (GRCm39) |
I297N |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,167,814 (GRCm39) |
E446G |
probably damaging |
Het |
| H2bc12 |
T |
C |
13: 22,220,393 (GRCm39) |
S113P |
probably benign |
Het |
| Hmmr |
A |
T |
11: 40,598,210 (GRCm39) |
Y667* |
probably null |
Het |
| Katnip |
A |
G |
7: 125,442,092 (GRCm39) |
Q693R |
probably benign |
Het |
| Klhl25 |
A |
G |
7: 75,515,757 (GRCm39) |
D221G |
probably damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
| Lipi |
T |
A |
16: 75,352,706 (GRCm39) |
N377I |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,289,928 (GRCm39) |
C3637F |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,264 (GRCm39) |
F168S |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Nkpd1 |
A |
T |
7: 19,257,462 (GRCm39) |
I414F |
probably damaging |
Het |
| Or4c99 |
T |
A |
2: 88,330,314 (GRCm39) |
M295K |
probably damaging |
Het |
| Or52z13 |
A |
T |
7: 103,246,598 (GRCm39) |
D25V |
probably benign |
Het |
| Pcdhb21 |
A |
T |
18: 37,648,385 (GRCm39) |
I505F |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,308,253 (GRCm39) |
R1278Q |
probably damaging |
Het |
| Pofut2 |
T |
C |
10: 77,095,220 (GRCm39) |
S22P |
possibly damaging |
Het |
| Prrc2b |
C |
A |
2: 32,090,953 (GRCm39) |
R442S |
probably damaging |
Het |
| Sema3e |
T |
A |
5: 14,302,397 (GRCm39) |
F641I |
possibly damaging |
Het |
| Sfswap |
G |
A |
5: 129,618,463 (GRCm39) |
V466I |
possibly damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,850,051 (GRCm39) |
V268E |
possibly damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,380,930 (GRCm39) |
D525G |
possibly damaging |
Het |
| Spata21 |
C |
T |
4: 140,822,467 (GRCm39) |
T91I |
possibly damaging |
Het |
| Spryd7 |
T |
G |
14: 61,783,228 (GRCm39) |
H98P |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,667,763 (GRCm39) |
T778K |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,209,270 (GRCm39) |
R3411Q |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,202,193 (GRCm39) |
I1607V |
probably benign |
Het |
| Ttll1 |
T |
C |
15: 83,380,516 (GRCm39) |
D283G |
probably benign |
Het |
| Ufl1 |
G |
A |
4: 25,275,807 (GRCm39) |
R199W |
probably benign |
Het |
| Vmn1r159 |
A |
G |
7: 22,542,616 (GRCm39) |
S139P |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,134,770 (GRCm39) |
I63V |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,623,337 (GRCm39) |
S2775G |
possibly damaging |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
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 |
|
|
R3889:Atp6v0a2
|
UTSW |
5 |
124,777,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATGAGCCATTATGATCCTCC -3'
(R):5'- AGCTGCAAAGTCCTGCTGTG -3'
Sequencing Primer
(F):5'- TCCCAGGAGCCCACTGTC -3'
(R):5'- CCTGATGGTGCTGTCACTGAAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation