Incidental Mutation 'R4013:Atp6v0a2'
| ID |
311812 |
| 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 |
040950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4013 (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 124789860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 429
(V429M)
|
| 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: V429M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: V429M
| 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 |
0.5301 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,668,104 (GRCm39) |
Q168R |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,727 (GRCm39) |
|
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Cbln4 |
A |
T |
2: 171,879,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,340 (GRCm39) |
V594A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,699,797 (GRCm39) |
E28G |
possibly damaging |
Het |
| Clip4 |
T |
A |
17: 72,163,541 (GRCm39) |
C704* |
probably null |
Het |
| Col8a2 |
T |
A |
4: 126,204,908 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,016,193 (GRCm39) |
T17A |
probably benign |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,853 (GRCm39) |
Q3* |
probably null |
Het |
| Cysltr2 |
A |
G |
14: 73,267,005 (GRCm39) |
I235T |
probably damaging |
Het |
| Esp34 |
C |
A |
17: 38,870,446 (GRCm39) |
C45* |
probably null |
Het |
| Gabrg2 |
T |
C |
11: 41,862,707 (GRCm39) |
K126E |
possibly damaging |
Het |
| Gm4846 |
A |
C |
1: 166,322,249 (GRCm39) |
|
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,764,780 (GRCm39) |
N165S |
possibly damaging |
Het |
| Kcnf1 |
A |
G |
12: 17,225,994 (GRCm39) |
F76L |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,010,177 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,067 (GRCm39) |
Y1325C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,335,731 (GRCm39) |
Y460H |
probably damaging |
Het |
| Myo15b |
G |
T |
11: 115,762,282 (GRCm39) |
E1201* |
probably null |
Het |
| Ndor1 |
A |
T |
2: 25,140,162 (GRCm39) |
I84K |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,819 (GRCm39) |
Y15N |
probably damaging |
Het |
| Or51af1 |
T |
C |
7: 103,141,840 (GRCm39) |
T82A |
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,725 (GRCm39) |
S137P |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,424,347 (GRCm39) |
D317E |
possibly damaging |
Het |
| Ppp2r1a |
G |
A |
17: 21,171,609 (GRCm39) |
R28H |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpn12 |
G |
A |
5: 21,197,741 (GRCm39) |
P700L |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc39a13 |
T |
C |
2: 90,895,247 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
T |
11: 77,450,659 (GRCm39) |
L371H |
possibly damaging |
Het |
| Tas2r116 |
A |
G |
6: 132,833,230 (GRCm39) |
H277R |
probably damaging |
Het |
| Treml4 |
G |
A |
17: 48,571,837 (GRCm39) |
R80Q |
probably benign |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,904,603 (GRCm39) |
T412I |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Wdr93 |
T |
A |
7: 79,418,159 (GRCm39) |
V294E |
possibly 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 |
|
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'- GCTTTGTGTAGCATTTAAATGGCC -3'
(R):5'- AACAAGTTTGAGTCCAGCAGG -3'
Sequencing Primer
(F):5'- GTCCTGTTCTGAGAGCTCTGAAAAAG -3'
(R):5'- AGGACTACCTGAGACCATCTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation