Incidental Mutation 'R7824:Atp6v0a2'
| ID |
602059 |
| 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 |
045878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124779443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 186
(E186G)
|
| 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: E186G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: E186G
| 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 |
0.3041 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7a |
T |
C |
15: 77,273,275 (GRCm39) |
R396G |
probably damaging |
Het |
| Arhgap40 |
A |
T |
2: 158,376,666 (GRCm39) |
R267S |
probably damaging |
Het |
| Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
| Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
| Bub1b |
T |
G |
2: 118,457,448 (GRCm39) |
|
probably null |
Het |
| Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
| Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,437,543 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,936 (GRCm39) |
N148D |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
| Gfpt2 |
T |
G |
11: 49,715,268 (GRCm39) |
I421R |
probably damaging |
Het |
| Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
| Hic1 |
C |
T |
11: 75,057,042 (GRCm39) |
V616M |
possibly damaging |
Het |
| Ica1l |
T |
G |
1: 60,047,029 (GRCm39) |
M241L |
probably benign |
Het |
| Ighg3 |
A |
T |
12: 113,323,426 (GRCm39) |
D283E |
|
Het |
| Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
| Ism2 |
A |
C |
12: 87,326,634 (GRCm39) |
V435G |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,354,002 (GRCm39) |
H271R |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,111,468 (GRCm39) |
S2240T |
|
Het |
| Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
| Map3k21 |
C |
G |
8: 126,637,702 (GRCm39) |
P96R |
probably benign |
Het |
| Mfge8 |
G |
T |
7: 78,795,135 (GRCm39) |
|
probably null |
Het |
| Mical2 |
T |
A |
7: 112,006,844 (GRCm39) |
Y588N |
probably damaging |
Het |
| Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,154,284 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Odf4 |
A |
T |
11: 68,812,898 (GRCm39) |
S253R |
probably benign |
Het |
| Or6c5c |
A |
G |
10: 129,298,665 (GRCm39) |
N40S |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,388,295 (GRCm39) |
|
probably null |
Het |
| Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
| Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
| Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
| Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
| Rin2 |
T |
A |
2: 145,703,037 (GRCm39) |
S533T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,865,375 (GRCm39) |
S671P |
probably damaging |
Het |
| Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
| Son |
T |
C |
16: 91,453,416 (GRCm39) |
L721S |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,047 (GRCm39) |
R732W |
possibly damaging |
Het |
| Speg |
T |
A |
1: 75,360,661 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
A |
5: 76,302,618 (GRCm39) |
F328I |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm39) |
|
probably null |
Het |
| Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,611,591 (GRCm39) |
F232C |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,011,746 (GRCm39) |
M476K |
probably benign |
Het |
| Tpgs2 |
G |
T |
18: 25,262,922 (GRCm39) |
F232L |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Tube1 |
A |
G |
10: 39,018,294 (GRCm39) |
I124V |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,991,566 (GRCm39) |
H1992Q |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,362,354 (GRCm39) |
R2660C |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,836,773 (GRCm39) |
T2924A |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,635,778 (GRCm39) |
K270E |
|
Het |
| Zfp874b |
A |
G |
13: 67,622,093 (GRCm39) |
F402L |
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 |
|
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 |
|
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'- GGCAGCTTCAGCAATCCTTTG -3'
(R):5'- TAGGGCTCAATGTAGGGCTC -3'
Sequencing Primer
(F):5'- GTCCAGCACACAGGTATCTTG -3'
(R):5'- GCATCTTTGGGTACTCACAAAACGG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation