Incidental Mutation 'R5875:Atp6v0a2'
| ID |
455460 |
| 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 |
044082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R5875 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124793391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 583
(V583I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037865]
[ENSMUST00000197161]
[ENSMUST00000198382]
|
| AlphaFold |
P15920 |
| PDB Structure |
NMR solution structure of peptide a2N(1-17) from Mus musculus V-ATPase [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037865
AA Change: V583I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: V583I
| 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: ENSMUST00000197161
|
| SMART Domains |
Protein: ENSMUSP00000143461
Gene: ENSMUSG00000038023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
A |
G |
2: 127,028,737 (GRCm39) |
V154A |
possibly damaging |
Het |
| Abcc1 |
A |
G |
16: 14,284,901 (GRCm39) |
E1250G |
possibly damaging |
Het |
| Ajap1 |
A |
C |
4: 153,516,798 (GRCm39) |
I181R |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,285 (GRCm39) |
Y3711C |
probably benign |
Het |
| Ark2c |
T |
C |
18: 77,650,877 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
T |
C |
10: 88,577,841 (GRCm39) |
S137P |
probably benign |
Het |
| Cdca7 |
T |
A |
2: 72,313,901 (GRCm39) |
M230K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,464 (GRCm39) |
D2841V |
probably damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,296 (GRCm39) |
F90Y |
probably damaging |
Het |
| Ckap5 |
A |
G |
2: 91,391,206 (GRCm39) |
T345A |
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,628,650 (GRCm39) |
S352R |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,231,692 (GRCm39) |
V1132A |
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,677,266 (GRCm39) |
|
probably null |
Het |
| Crhbp |
A |
G |
13: 95,580,304 (GRCm39) |
F99L |
probably benign |
Het |
| Dnmt3l |
A |
T |
10: 77,889,772 (GRCm39) |
M210L |
probably benign |
Het |
| Dyrk2 |
T |
A |
10: 118,696,602 (GRCm39) |
R219W |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,916,542 (GRCm39) |
I78T |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,615,342 (GRCm39) |
|
probably null |
Het |
| Frmd5 |
A |
G |
2: 121,388,959 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
T |
C |
6: 88,179,473 (GRCm39) |
L315P |
probably damaging |
Het |
| Gm17067 |
G |
A |
7: 42,357,470 (GRCm39) |
T344I |
probably benign |
Het |
| Gm4884 |
A |
T |
7: 40,692,360 (GRCm39) |
T110S |
possibly damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,721 (GRCm39) |
E56G |
probably benign |
Het |
| Helq |
A |
C |
5: 100,944,336 (GRCm39) |
I258S |
probably damaging |
Het |
| Hoxd10 |
T |
C |
2: 74,522,426 (GRCm39) |
Y35H |
possibly damaging |
Het |
| Inpp5b |
T |
C |
4: 124,674,199 (GRCm39) |
V302A |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,645,696 (GRCm39) |
I1027N |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,129,138 (GRCm39) |
S482G |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,487 (GRCm39) |
V902I |
probably benign |
Het |
| Jkampl |
T |
C |
6: 73,446,028 (GRCm39) |
I174V |
possibly damaging |
Het |
| Kctd16 |
T |
A |
18: 40,390,447 (GRCm39) |
|
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,458,918 (GRCm39) |
N971S |
probably benign |
Het |
| Klra17 |
T |
C |
6: 129,851,791 (GRCm39) |
D27G |
probably benign |
Het |
| Leo1 |
G |
C |
9: 75,357,842 (GRCm39) |
R412S |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,846,128 (GRCm39) |
N348S |
probably benign |
Het |
| Lpp |
G |
A |
16: 24,427,059 (GRCm39) |
G62E |
probably benign |
Het |
| Lyn |
G |
A |
4: 3,745,631 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,326,107 (GRCm39) |
N5128I |
possibly damaging |
Het |
| Mapk7 |
T |
A |
11: 61,384,524 (GRCm39) |
I61L |
probably benign |
Het |
| Mindy1 |
T |
C |
3: 95,202,125 (GRCm39) |
V334A |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,189 (GRCm39) |
T396I |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,840,973 (GRCm39) |
|
probably null |
Het |
| Noc4l |
A |
C |
5: 110,799,176 (GRCm39) |
|
probably null |
Het |
| Oas1c |
A |
G |
5: 120,943,627 (GRCm39) |
Y171H |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,730,614 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
G |
A |
5: 21,947,944 (GRCm39) |
E216K |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,639,731 (GRCm39) |
R137Q |
possibly damaging |
Het |
| Ptprb |
T |
G |
10: 116,184,071 (GRCm39) |
W1628G |
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,955 (GRCm39) |
|
probably null |
Het |
| Sart1 |
T |
C |
19: 5,433,823 (GRCm39) |
D338G |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,870,703 (GRCm39) |
Y251* |
probably null |
Het |
| Sdk2 |
G |
T |
11: 113,720,885 (GRCm39) |
T1348K |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,323,379 (GRCm39) |
Y1272H |
probably damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,903 (GRCm39) |
L432Q |
probably damaging |
Het |
| Susd1 |
A |
T |
4: 59,412,203 (GRCm39) |
F117I |
possibly damaging |
Het |
| Taf5 |
A |
T |
19: 47,064,549 (GRCm39) |
Y465F |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,630 (GRCm39) |
M1L |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,178,058 (GRCm39) |
D193G |
possibly damaging |
Het |
| Tex56 |
T |
G |
13: 35,116,429 (GRCm39) |
C59W |
probably damaging |
Het |
| Tirap |
G |
A |
9: 35,100,465 (GRCm39) |
P73L |
probably damaging |
Het |
| Tm6sf2 |
A |
G |
8: 70,528,039 (GRCm39) |
D86G |
possibly damaging |
Het |
| Tmem161b |
A |
T |
13: 84,442,977 (GRCm39) |
H481L |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,650,534 (GRCm39) |
V1763I |
probably damaging |
Het |
| Ubxn1 |
T |
C |
19: 8,849,584 (GRCm39) |
S75P |
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,066,702 (GRCm39) |
K709E |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,092 (GRCm39) |
Y74N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,335,424 (GRCm39) |
E81G |
probably benign |
Het |
| Zbtb45 |
A |
G |
7: 12,742,237 (GRCm39) |
V7A |
possibly damaging |
Het |
| Zfp668 |
C |
A |
7: 127,465,474 (GRCm39) |
R570L |
possibly damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,636,390 (GRCm39) |
M125K |
possibly damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,355,072 (GRCm39) |
L913P |
probably 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 |
|
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 |
|
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'- TGTGGTTCTGCACAGTTCTC -3'
(R):5'- CTCATCACAGGCTACGTACG -3'
Sequencing Primer
(F):5'- GTGGTTCTGCACAGTTCTCTTTCTTG -3'
(R):5'- TACGTACGGGAGACTGCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation