Incidental Mutation 'R5219:Atp6v0a2'
| ID |
402207 |
| 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 |
042792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R5219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124790249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 477
(N477K)
|
| 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: N477K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: N477K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
842 |
3.3e-299 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197087
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199526
|
| Meta Mutation Damage Score |
0.7164 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700063H04Rik |
A |
G |
6: 122,369,299 (GRCm39) |
|
noncoding transcript |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| A2m |
A |
G |
6: 121,653,909 (GRCm39) |
H1414R |
possibly damaging |
Het |
| A530064D06Rik |
G |
T |
17: 48,470,518 (GRCm39) |
D154E |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,104,461 (GRCm39) |
D395N |
probably benign |
Het |
| Agl |
A |
G |
3: 116,572,370 (GRCm39) |
V195A |
possibly damaging |
Het |
| Aip |
T |
C |
19: 4,165,180 (GRCm39) |
I230V |
probably benign |
Het |
| Akap10 |
A |
C |
11: 61,813,617 (GRCm39) |
S43A |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,545,651 (GRCm39) |
E1026G |
probably benign |
Het |
| Arid5b |
T |
A |
10: 68,113,940 (GRCm39) |
K32N |
probably benign |
Het |
| Atr |
A |
C |
9: 95,763,291 (GRCm39) |
I1062L |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,743,278 (GRCm39) |
V171A |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,342,215 (GRCm39) |
|
probably null |
Het |
| Cpne3 |
A |
T |
4: 19,526,366 (GRCm39) |
L391H |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,490,675 (GRCm39) |
L715P |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,314 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,919,627 (GRCm39) |
A585T |
probably benign |
Het |
| Elapor2 |
G |
T |
5: 9,511,486 (GRCm39) |
W949C |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,803,510 (GRCm39) |
A1705T |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,412,110 (GRCm39) |
V252D |
probably damaging |
Het |
| Gm11677 |
A |
G |
11: 111,616,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
A |
G |
7: 4,371,998 (GRCm39) |
V252A |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,610,785 (GRCm39) |
V176A |
probably benign |
Het |
| Irx2 |
G |
C |
13: 72,779,420 (GRCm39) |
A235P |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,367,785 (GRCm39) |
V431E |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,387 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,026,746 (GRCm39) |
W500R |
probably benign |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,668,711 (GRCm39) |
I127M |
probably benign |
Het |
| Nxph1 |
T |
A |
6: 9,247,765 (GRCm39) |
Y245* |
probably null |
Het |
| Or4a73 |
C |
T |
2: 89,421,046 (GRCm39) |
V138I |
probably benign |
Het |
| Or7s1a-ps1 |
T |
C |
9: 18,843,990 (GRCm39) |
|
probably benign |
Het |
| Or8g34 |
G |
T |
9: 39,373,563 (GRCm39) |
V276L |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,793 (GRCm39) |
T69S |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,966 (GRCm39) |
F71S |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,262 (GRCm39) |
Y404* |
probably null |
Het |
| Pde2a |
A |
C |
7: 101,153,811 (GRCm39) |
I460L |
probably damaging |
Het |
| Ppp3cb |
G |
T |
14: 20,578,263 (GRCm39) |
C162* |
probably null |
Het |
| Prickle2 |
T |
C |
6: 92,353,511 (GRCm39) |
S652G |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,309 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,821,813 (GRCm39) |
|
probably benign |
Het |
| Rgp1 |
C |
T |
4: 43,579,440 (GRCm39) |
A16V |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,365,489 (GRCm39) |
Y514N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,896,501 (GRCm39) |
D134G |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,529,111 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
T |
6: 114,287,182 (GRCm39) |
M388L |
probably benign |
Het |
| Ssbp3 |
A |
T |
4: 106,904,655 (GRCm39) |
N350I |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
A |
T |
5: 87,726,445 (GRCm39) |
I223N |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,740,582 (GRCm39) |
G290C |
probably damaging |
Het |
| Tekt2 |
G |
T |
4: 126,216,057 (GRCm39) |
T412K |
possibly damaging |
Het |
| Trabd2b |
A |
G |
4: 114,460,007 (GRCm39) |
T382A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,204,543 (GRCm39) |
Y4818* |
probably null |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,069 (GRCm39) |
R233S |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,382 (GRCm39) |
Y165H |
probably damaging |
Het |
| Yaf2 |
A |
C |
15: 93,183,355 (GRCm39) |
C152G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,703 (GRCm39) |
F751I |
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 |
|
|
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 |
|
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'- GCTGGAATGAGCCATTATGATC -3'
(R):5'- AGCTGCAAAGTCCTGCTGTG -3'
Sequencing Primer
(F):5'- GAATGAGCCATTATGATCCTCCCAGG -3'
(R):5'- CCTGATGGTGCTGTCACTGAAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation