Incidental Mutation 'R7342:Atp6v0a2'
| ID |
569930 |
| 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 |
045432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124784676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 320
(T320A)
|
| 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: T320A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: T320A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
G |
11: 101,308,018 (GRCm39) |
T28P |
probably benign |
Het |
| Abcc1 |
C |
A |
16: 14,283,033 (GRCm39) |
R1170S |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,566,304 (GRCm39) |
N568S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,926,467 (GRCm39) |
R65G |
probably damaging |
Het |
| Arid4b |
A |
C |
13: 14,310,804 (GRCm39) |
I136L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,873,304 (GRCm39) |
G29V |
possibly damaging |
Het |
| B4gat1 |
G |
A |
19: 5,089,686 (GRCm39) |
V228M |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,691,536 (GRCm39) |
H450L |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,692 (GRCm39) |
N599K |
possibly damaging |
Het |
| Cblif |
A |
T |
19: 11,740,587 (GRCm39) |
H407L |
probably benign |
Het |
| Cel |
A |
T |
2: 28,450,649 (GRCm39) |
Y125* |
probably null |
Het |
| Cfi |
T |
A |
3: 129,668,781 (GRCm39) |
N602K |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,713,887 (GRCm39) |
A190T |
probably damaging |
Het |
| Cmklr1 |
C |
T |
5: 113,752,354 (GRCm39) |
V216M |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,852 (GRCm39) |
T128A |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,710,610 (GRCm39) |
T342A |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,041 (GRCm39) |
E298G |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,957,040 (GRCm39) |
E307V |
probably benign |
Het |
| Cxcl10 |
T |
A |
5: 92,496,029 (GRCm39) |
D36V |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,432 (GRCm39) |
T73A |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,629,208 (GRCm39) |
E1449A |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,919,552 (GRCm39) |
M683T |
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,396,760 (GRCm39) |
W241L |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,621,033 (GRCm39) |
I219V |
probably benign |
Het |
| Gtf2f2 |
T |
C |
14: 76,144,317 (GRCm39) |
D179G |
probably damaging |
Het |
| Ighg2b |
A |
G |
12: 113,270,050 (GRCm39) |
Y323H |
|
Het |
| Itpr2 |
A |
T |
6: 146,228,685 (GRCm39) |
H1303Q |
probably damaging |
Het |
| Kif1b |
A |
C |
4: 149,298,547 (GRCm39) |
Y1040D |
possibly damaging |
Het |
| Lbr |
C |
T |
1: 181,653,186 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,309,634 (GRCm39) |
V2755A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,619,431 (GRCm39) |
C606S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,275,917 (GRCm39) |
E6217G |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,418 (GRCm39) |
V1687A |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,864 (GRCm39) |
F15I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,679 (GRCm39) |
S1605T |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,210,831 (GRCm39) |
E419G |
probably damaging |
Het |
| Or14a260 |
G |
A |
7: 85,985,295 (GRCm39) |
T103I |
probably benign |
Het |
| Or8c18 |
A |
G |
9: 38,203,574 (GRCm39) |
Y111C |
probably damaging |
Het |
| Paip2b |
T |
A |
6: 83,791,808 (GRCm39) |
S25C |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,160,709 (GRCm39) |
R53C |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,411,608 (GRCm39) |
T808A |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,520 (GRCm39) |
I218K |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,232,549 (GRCm39) |
D872G |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,977 (GRCm39) |
*325W |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,237,151 (GRCm38) |
V1390A |
possibly damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,033,771 (GRCm39) |
T2A |
probably damaging |
Het |
| Rpl18a |
T |
C |
8: 71,348,042 (GRCm39) |
N214D |
unknown |
Het |
| Scp2 |
T |
A |
4: 107,948,518 (GRCm39) |
Y197F |
probably benign |
Het |
| Sftpb |
G |
A |
6: 72,286,858 (GRCm39) |
R254H |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,378,555 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc38a9 |
G |
T |
13: 112,806,125 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
T |
5: 31,693,634 (GRCm39) |
L523F |
possibly damaging |
Het |
| Spats2l |
C |
A |
1: 57,925,106 (GRCm39) |
T168K |
possibly damaging |
Het |
| Sstr1 |
A |
G |
12: 58,260,456 (GRCm39) |
S360G |
possibly damaging |
Het |
| Taf1b |
A |
T |
12: 24,608,343 (GRCm39) |
K581* |
probably null |
Het |
| Tfip11 |
T |
A |
5: 112,475,838 (GRCm39) |
M1K |
probably null |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,551,583 (GRCm39) |
H48Y |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,703 (GRCm39) |
L1346P |
probably damaging |
Het |
| Vmac |
T |
C |
17: 57,022,644 (GRCm39) |
E122G |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,138 (GRCm39) |
V172A |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,648,014 (GRCm39) |
|
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 |
|
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 |
|
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'- GACCATTTGTGGCCTTGCTG -3'
(R):5'- TGAGACAAGGCCTCAAACTGAC -3'
Sequencing Primer
(F):5'- TGCGGTGGCAGAGAACTGTG -3'
(R):5'- TCAAACTGACCTCCAGCTCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation