Incidental Mutation 'R8118:Atp6v0a2'
| ID |
631328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0a2
|
| Ensembl Gene |
ENSMUSG00000038023 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A2 |
| Synonyms |
V-ATPase a2, Atp6n2, 8430408C20Rik, Tj6, ATP6a2, TJ6s |
| MMRRC Submission |
067547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R8118 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124628576-124724455 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124712773 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 421
(M421T)
|
| 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: M421T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: M421T
| 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: 99.8%
- 3x: 99.5%
- 10x: 98.2%
- 20x: 91.1%
|
| Validation Efficiency |
97% (68/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,795,933 |
D792G |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 88,315,756 |
H417R |
probably damaging |
Het |
| Agr2 |
A |
G |
12: 35,996,107 |
D79G |
probably benign |
Het |
| Ankle1 |
T |
C |
8: 71,407,635 |
S286P |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,735,857 |
S1488P |
probably damaging |
Het |
| Cdk17 |
C |
A |
10: 93,216,390 |
Q111K |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,254,834 |
S623P |
probably benign |
Het |
| Dgka |
C |
T |
10: 128,722,449 |
|
probably null |
Het |
| Dsc2 |
C |
T |
18: 20,032,274 |
G881R |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,582,801 |
I267V |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,971,918 |
Y899H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,960,104 |
F3664L |
probably benign |
Het |
| Fbxo47 |
C |
T |
11: 97,879,515 |
C17Y |
probably benign |
Het |
| Gm2888 |
G |
T |
14: 3,037,628 |
V207F |
probably benign |
Het |
| Gm7030 |
C |
T |
17: 36,127,690 |
V270M |
probably damaging |
Het |
| Gpr61 |
A |
G |
3: 108,150,572 |
S258P |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,286,376 |
H700Y |
probably benign |
Het |
| Hs3st2 |
C |
T |
7: 121,397,428 |
T154I |
probably benign |
Het |
| Inf2 |
A |
T |
12: 112,601,437 |
H167L |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,400,299 |
|
probably null |
Het |
| Ippk |
C |
T |
13: 49,446,342 |
P226S |
|
Het |
| Itgal |
C |
A |
7: 127,311,245 |
Q509K |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 161,098,401 |
|
probably null |
Het |
| Krtap4-13 |
C |
T |
11: 99,809,398 |
C145Y |
unknown |
Het |
| Large1 |
A |
G |
8: 73,131,944 |
S99P |
probably benign |
Het |
| Lexm |
T |
A |
4: 106,613,398 |
R192S |
possibly damaging |
Het |
| Lrba |
A |
T |
3: 86,354,226 |
I1496L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,425,391 |
I1647F |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,673,417 |
V203A |
possibly damaging |
Het |
| Mcmdc2 |
T |
A |
1: 9,916,374 |
N166K |
possibly damaging |
Het |
| Mlxipl |
T |
G |
5: 135,137,248 |
L828R |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,219,090 |
I253V |
probably benign |
Het |
| Mtfp1 |
A |
G |
11: 4,093,910 |
S107P |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,379,820 |
Y65F |
possibly damaging |
Het |
| Nelfb |
A |
T |
2: 25,205,159 |
D339E |
possibly damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,965,631 |
I20L |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,230,516 |
M1501K |
probably benign |
Het |
| Olfr1487 |
T |
A |
19: 13,619,745 |
N151K |
probably damaging |
Het |
| Olfr304 |
A |
T |
7: 86,385,768 |
C297* |
probably null |
Het |
| Olfr51 |
A |
G |
11: 51,007,500 |
H176R |
probably damaging |
Het |
| Olfr720 |
A |
G |
14: 14,175,863 |
I73T |
probably damaging |
Het |
| Olfr725 |
T |
C |
14: 50,035,151 |
D84G |
probably benign |
Het |
| Olfr998 |
T |
A |
2: 85,590,988 |
Y149* |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,029,809 |
E650G |
probably damaging |
Het |
| Prps1l1 |
C |
A |
12: 34,985,341 |
L152M |
probably damaging |
Het |
| Rgs7bp |
C |
A |
13: 105,053,121 |
V57F |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,164,183 |
V171D |
unknown |
Het |
| Sf3a2 |
T |
C |
10: 80,803,640 |
Y155H |
probably damaging |
Het |
| Sfrp1 |
T |
G |
8: 23,411,984 |
L67R |
probably damaging |
Het |
| Shank2 |
A |
T |
7: 144,409,875 |
I407L |
probably benign |
Het |
| Skint6 |
A |
C |
4: 113,156,494 |
S353R |
possibly damaging |
Het |
| Skint6 |
T |
C |
4: 112,865,675 |
T902A |
possibly damaging |
Het |
| Srrm2 |
T |
A |
17: 23,808,083 |
I87N |
unknown |
Het |
| Stard9 |
G |
A |
2: 120,704,430 |
G3723S |
probably benign |
Het |
| Svs3b |
A |
G |
2: 164,256,006 |
S132P |
probably damaging |
Het |
| Tbc1d17 |
G |
T |
7: 44,843,002 |
F412L |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,854,263 |
E116D |
unknown |
Het |
| Tmem204 |
T |
C |
17: 25,080,338 |
D69G |
possibly damaging |
Het |
| Ttll10 |
G |
A |
4: 156,044,762 |
R308C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,747,164 |
I24462F |
probably damaging |
Het |
| Tubg2 |
A |
G |
11: 101,161,478 |
E411G |
probably damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,423,771 |
N134S |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,677,262 |
T351A |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,360,359 |
L92S |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,396,470 |
I471N |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 33,104,115 |
P1193L |
|
Het |
| Wnk2 |
A |
G |
13: 49,090,983 |
V459A |
probably damaging |
Het |
|
| Other mutations in Atp6v0a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Atp6v0a2
|
APN |
5 |
124,721,777 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01310:Atp6v0a2
|
APN |
5 |
124,646,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01944:Atp6v0a2
|
APN |
5 |
124,636,105 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02044:Atp6v0a2
|
APN |
5 |
124,646,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02400:Atp6v0a2
|
APN |
5 |
124,721,785 (GRCm38) |
missense |
probably benign |
|
|
IGL02650:Atp6v0a2
|
APN |
5 |
124,712,362 (GRCm38) |
splice site |
probably benign |
|
|
IGL02687:Atp6v0a2
|
APN |
5 |
124,714,142 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02965:Atp6v0a2
|
APN |
5 |
124,629,202 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL03049:Atp6v0a2
|
APN |
5 |
124,712,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03088:Atp6v0a2
|
APN |
5 |
124,714,107 (GRCm38) |
splice site |
probably benign |
|
|
IGL03198:Atp6v0a2
|
APN |
5 |
124,712,361 (GRCm38) |
critical splice donor site |
probably null |
|
|
alkaline
|
UTSW |
5 |
124,719,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
basic
|
UTSW |
5 |
124,712,328 (GRCm38) |
nonsense |
probably null |
|
|
electronegative
|
UTSW |
5 |
124,646,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
energizer
|
UTSW |
5 |
124,719,986 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Everready
|
UTSW |
5 |
124,641,505 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Lithium
|
UTSW |
5 |
124,714,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0128:Atp6v0a2
|
UTSW |
5 |
124,713,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0594:Atp6v0a2
|
UTSW |
5 |
124,717,982 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1540:Atp6v0a2
|
UTSW |
5 |
124,646,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2136:Atp6v0a2
|
UTSW |
5 |
124,718,488 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R2921:Atp6v0a2
|
UTSW |
5 |
124,717,917 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2922:Atp6v0a2
|
UTSW |
5 |
124,717,917 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2923:Atp6v0a2
|
UTSW |
5 |
124,717,917 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R3055:Atp6v0a2
|
UTSW |
5 |
124,627,144 (GRCm38) |
unclassified |
probably benign |
|
|
R3889:Atp6v0a2
|
UTSW |
5 |
124,639,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3893:Atp6v0a2
|
UTSW |
5 |
124,639,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4013:Atp6v0a2
|
UTSW |
5 |
124,712,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4490:Atp6v0a2
|
UTSW |
5 |
124,646,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4791:Atp6v0a2
|
UTSW |
5 |
124,646,727 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5219:Atp6v0a2
|
UTSW |
5 |
124,713,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5247:Atp6v0a2
|
UTSW |
5 |
124,713,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5293:Atp6v0a2
|
UTSW |
5 |
124,646,709 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5620:Atp6v0a2
|
UTSW |
5 |
124,645,969 (GRCm38) |
nonsense |
probably null |
|
|
R5830:Atp6v0a2
|
UTSW |
5 |
124,641,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5875:Atp6v0a2
|
UTSW |
5 |
124,716,327 (GRCm38) |
missense |
probably benign |
|
|
R5903:Atp6v0a2
|
UTSW |
5 |
124,712,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6192:Atp6v0a2
|
UTSW |
5 |
124,629,203 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6425:Atp6v0a2
|
UTSW |
5 |
124,713,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6752:Atp6v0a2
|
UTSW |
5 |
124,641,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6919:Atp6v0a2
|
UTSW |
5 |
124,712,161 (GRCm38) |
splice site |
probably null |
|
|
R6994:Atp6v0a2
|
UTSW |
5 |
124,714,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7053:Atp6v0a2
|
UTSW |
5 |
124,645,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7268:Atp6v0a2
|
UTSW |
5 |
124,719,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7342:Atp6v0a2
|
UTSW |
5 |
124,646,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7349:Atp6v0a2
|
UTSW |
5 |
124,712,328 (GRCm38) |
nonsense |
probably null |
|
|
R7714:Atp6v0a2
|
UTSW |
5 |
124,637,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7715:Atp6v0a2
|
UTSW |
5 |
124,714,198 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7748:Atp6v0a2
|
UTSW |
5 |
124,716,496 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7775:Atp6v0a2
|
UTSW |
5 |
124,641,505 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7778:Atp6v0a2
|
UTSW |
5 |
124,641,505 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7824:Atp6v0a2
|
UTSW |
5 |
124,641,505 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7833:Atp6v0a2
|
UTSW |
5 |
124,645,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7901:Atp6v0a2
|
UTSW |
5 |
124,641,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7977:Atp6v0a2
|
UTSW |
5 |
124,719,986 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7987:Atp6v0a2
|
UTSW |
5 |
124,719,986 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8728:Atp6v0a2
|
UTSW |
5 |
124,719,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8765:Atp6v0a2
|
UTSW |
5 |
124,716,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8945:Atp6v0a2
|
UTSW |
5 |
124,646,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8971:Atp6v0a2
|
UTSW |
5 |
124,719,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9023:Atp6v0a2
|
UTSW |
5 |
124,719,074 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9300:Atp6v0a2
|
UTSW |
5 |
124,712,248 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9360:Atp6v0a2
|
UTSW |
5 |
124,629,194 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9601:Atp6v0a2
|
UTSW |
5 |
124,713,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTATAGTCCTGTTCTGAGAG -3'
(R):5'- CCTCTAGGTTAGCCTTTGGTAG -3'
Sequencing Primer
(F):5'- GTCCTGTTCTGAGAGCTCTGAAAAAG -3'
(R):5'- TGGTAGTAACAAGTTTGAGTCCAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation