Incidental Mutation 'R1540:Atp6v0a2'
| ID |
171653 |
| 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 |
039579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R1540 (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 124784638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 307
(A307D)
|
| 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: A307D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: A307D
| 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 |
|
| Meta Mutation Damage Score |
0.9005 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
96% (72/75) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,574,384 (GRCm39) |
C767R |
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,551,775 (GRCm39) |
I644N |
probably benign |
Het |
| Asb16 |
A |
G |
11: 102,163,402 (GRCm39) |
I131V |
probably benign |
Het |
| C1qtnf1 |
C |
T |
11: 118,338,749 (GRCm39) |
H140Y |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,347,865 (GRCm39) |
D741V |
probably damaging |
Het |
| Caprin2 |
T |
A |
6: 148,777,969 (GRCm39) |
T211S |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,283,037 (GRCm39) |
E89G |
possibly damaging |
Het |
| Casz1 |
T |
A |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,378,589 (GRCm39) |
R30Q |
probably benign |
Het |
| Ccdc102a |
A |
T |
8: 95,634,341 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
G |
T |
8: 46,395,362 (GRCm39) |
E418* |
probably null |
Het |
| Ccdc90b |
C |
T |
7: 92,231,024 (GRCm39) |
A210V |
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,823,532 (GRCm39) |
A320E |
probably damaging |
Het |
| Cdadc1 |
T |
A |
14: 59,823,541 (GRCm39) |
Q317L |
probably damaging |
Het |
| Cep170 |
C |
A |
1: 176,567,498 (GRCm39) |
W1396L |
probably damaging |
Het |
| Col4a6 |
T |
C |
X: 140,010,854 (GRCm39) |
T129A |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,954,141 (GRCm39) |
D319N |
probably benign |
Het |
| Dclk1 |
T |
C |
3: 55,385,244 (GRCm39) |
S45P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,999,726 (GRCm39) |
I5581T |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,406,412 (GRCm39) |
I388V |
probably benign |
Het |
| Fbxl5 |
A |
T |
5: 43,915,978 (GRCm39) |
V435E |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,064,582 (GRCm39) |
M887K |
possibly damaging |
Het |
| Glt8d1 |
G |
A |
14: 30,733,549 (GRCm39) |
V345I |
probably benign |
Het |
| Gm5709 |
T |
C |
3: 59,526,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hsp90b1 |
A |
G |
10: 86,529,906 (GRCm39) |
F264L |
probably damaging |
Het |
| Id3 |
A |
G |
4: 135,871,250 (GRCm39) |
S21G |
possibly damaging |
Het |
| Ighe |
T |
A |
12: 113,235,066 (GRCm39) |
N365Y |
unknown |
Het |
| Il17rd |
T |
G |
14: 26,821,915 (GRCm39) |
M403R |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,249,365 (GRCm39) |
|
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,352,743 (GRCm39) |
|
probably null |
Het |
| Kctd19 |
A |
G |
8: 106,114,511 (GRCm39) |
S517P |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,821,944 (GRCm39) |
F2964L |
probably benign |
Het |
| Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,990 (GRCm39) |
K405R |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,809,686 (GRCm39) |
M452K |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,560,273 (GRCm39) |
L677P |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,541,558 (GRCm39) |
F221I |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,820 (GRCm39) |
V146M |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,772 (GRCm39) |
C895* |
probably null |
Het |
| Nod1 |
T |
C |
6: 54,920,960 (GRCm39) |
T453A |
probably benign |
Het |
| Nodal |
T |
C |
10: 61,258,764 (GRCm39) |
V67A |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,184,440 (GRCm39) |
L381P |
probably damaging |
Het |
| Or13c25 |
T |
C |
4: 52,910,996 (GRCm39) |
D266G |
probably benign |
Het |
| Or2b2b |
T |
A |
13: 21,858,700 (GRCm39) |
Q138L |
probably benign |
Het |
| Or9e1 |
T |
A |
11: 58,732,477 (GRCm39) |
M179K |
probably benign |
Het |
| P2ry14 |
T |
A |
3: 59,022,686 (GRCm39) |
K267M |
probably benign |
Het |
| Pcdh1 |
T |
C |
18: 38,322,779 (GRCm39) |
N1018S |
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,974,703 (GRCm39) |
V406I |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,226,916 (GRCm39) |
T634I |
probably damaging |
Het |
| Psme2b |
T |
A |
11: 48,836,209 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
A |
G |
3: 100,967,970 (GRCm39) |
I541T |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,307,746 (GRCm39) |
V684A |
probably benign |
Het |
| Rbbp5 |
C |
T |
1: 132,422,020 (GRCm39) |
R307* |
probably null |
Het |
| Rcor1 |
T |
A |
12: 111,070,037 (GRCm39) |
|
probably benign |
Het |
| Rlbp1 |
C |
T |
7: 79,029,808 (GRCm39) |
A142T |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,560,305 (GRCm39) |
E581G |
probably null |
Het |
| Sars1 |
A |
T |
3: 108,340,461 (GRCm39) |
V155E |
probably benign |
Het |
| Sec31a |
G |
C |
5: 100,523,178 (GRCm39) |
P569A |
probably damaging |
Het |
| Selenof |
A |
T |
3: 144,300,685 (GRCm39) |
K111* |
probably null |
Het |
| Serpinb7 |
C |
T |
1: 107,355,998 (GRCm39) |
A7V |
possibly damaging |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,720,409 (GRCm39) |
I204N |
probably damaging |
Het |
| Spry4 |
T |
G |
18: 38,734,740 (GRCm39) |
|
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,328,751 (GRCm39) |
N261S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,804 (GRCm39) |
F192S |
probably benign |
Het |
| Tnr |
T |
A |
1: 159,677,675 (GRCm39) |
I20N |
probably damaging |
Het |
| Ttll5 |
C |
T |
12: 85,938,982 (GRCm39) |
Q427* |
probably null |
Het |
| Vps45 |
C |
T |
3: 95,955,658 (GRCm39) |
A111T |
probably damaging |
Het |
| Zfp395 |
T |
C |
14: 65,630,523 (GRCm39) |
S358P |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,210,740 (GRCm39) |
V766A |
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 |
|
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 |
|
R9601:Atp6v0a2
|
UTSW |
5 |
124,790,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAAAGCCCTTTGTGTCTCTCTG -3'
(R):5'- ACCCTGTGGCATACTATGTCCTCG -3'
Sequencing Primer
(F):5'- TTCACACATGGAAACTTCAGGG -3'
(R):5'- TATGTCCTCGAGAGGGTCCTAATG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation