Incidental Mutation 'R4490:Atp6v0a2'
| ID |
330676 |
| 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 |
041746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124784674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 319
(V319A)
|
| 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: V319A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: V319A
| 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 |
0.5395 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,349 (GRCm39) |
V417A |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
| Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,207,393 (GRCm39) |
S257P |
possibly damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
| Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
| Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
| Gbp2 |
A |
G |
3: 142,329,525 (GRCm39) |
N24S |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
| Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,062,424 (GRCm39) |
V447A |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,011 (GRCm39) |
P831S |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
| Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
| Prdm1 |
G |
T |
10: 44,322,903 (GRCm39) |
Y197* |
probably null |
Het |
| Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
| Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
| Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
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 |
|
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'- ACCATTTGTGGCCTTGCTG -3'
(R):5'- TGAGACAAGGCCTCAAACTGAC -3'
Sequencing Primer
(F):5'- TGCGGTGGCAGAGAACTGTG -3'
(R):5'- TCAAACTGACCTCCAGCTCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation