Incidental Mutation 'R8168:Atp6v1b2'
| ID |
633907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v1b2
|
| Ensembl Gene |
ENSMUSG00000006273 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit B2 |
| Synonyms |
HO57, Atp6b2 |
| MMRRC Submission |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69541388-69566370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69560983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 404
(S404P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006435]
|
| AlphaFold |
P62814 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006435
AA Change: S404P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: S404P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
50 |
116 |
3.2e-14 |
PFAM |
|
Pfam:ATP-synt_ab
|
173 |
399 |
1.9e-69 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
416 |
510 |
5.1e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Flrt1 |
G |
A |
19: 7,074,002 (GRCm39) |
L182F |
probably damaging |
Het |
| Foxf1 |
T |
C |
8: 121,811,901 (GRCm39) |
V255A |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,282 (GRCm39) |
F52S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nelfa |
A |
T |
5: 34,079,251 (GRCm39) |
N107K |
possibly damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,601 (GRCm39) |
E357D |
unknown |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Rcc1 |
T |
C |
4: 132,063,096 (GRCm39) |
E170G |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
Het |
|
| Other mutations in Atp6v1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Atp6v1b2
|
APN |
8 |
69,541,586 (GRCm39) |
splice site |
probably null |
|
|
IGL00908:Atp6v1b2
|
APN |
8 |
69,548,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01914:Atp6v1b2
|
APN |
8 |
69,548,932 (GRCm39) |
splice site |
probably benign |
|
|
IGL03010:Atp6v1b2
|
APN |
8 |
69,558,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03376:Atp6v1b2
|
APN |
8 |
69,554,811 (GRCm39) |
splice site |
probably benign |
|
|
R0127:Atp6v1b2
|
UTSW |
8 |
69,556,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Atp6v1b2
|
UTSW |
8 |
69,554,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Atp6v1b2
|
UTSW |
8 |
69,562,637 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1754:Atp6v1b2
|
UTSW |
8 |
69,554,613 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1932:Atp6v1b2
|
UTSW |
8 |
69,555,459 (GRCm39) |
nonsense |
probably null |
|
|
R1954:Atp6v1b2
|
UTSW |
8 |
69,558,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2228:Atp6v1b2
|
UTSW |
8 |
69,555,411 (GRCm39) |
splice site |
probably null |
|
|
R2229:Atp6v1b2
|
UTSW |
8 |
69,555,411 (GRCm39) |
splice site |
probably null |
|
|
R4448:Atp6v1b2
|
UTSW |
8 |
69,554,674 (GRCm39) |
missense |
probably benign |
|
|
R4738:Atp6v1b2
|
UTSW |
8 |
69,556,062 (GRCm39) |
missense |
probably benign |
|
|
R5243:Atp6v1b2
|
UTSW |
8 |
69,556,391 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5388:Atp6v1b2
|
UTSW |
8 |
69,554,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5664:Atp6v1b2
|
UTSW |
8 |
69,560,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5774:Atp6v1b2
|
UTSW |
8 |
69,554,613 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5894:Atp6v1b2
|
UTSW |
8 |
69,560,218 (GRCm39) |
splice site |
probably null |
|
|
R6015:Atp6v1b2
|
UTSW |
8 |
69,555,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Atp6v1b2
|
UTSW |
8 |
69,555,134 (GRCm39) |
nonsense |
probably null |
|
|
R6217:Atp6v1b2
|
UTSW |
8 |
69,562,530 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6636:Atp6v1b2
|
UTSW |
8 |
69,554,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Atp6v1b2
|
UTSW |
8 |
69,554,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7032:Atp6v1b2
|
UTSW |
8 |
69,541,548 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7108:Atp6v1b2
|
UTSW |
8 |
69,555,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7184:Atp6v1b2
|
UTSW |
8 |
69,555,219 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7578:Atp6v1b2
|
UTSW |
8 |
69,556,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8342:Atp6v1b2
|
UTSW |
8 |
69,554,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8380:Atp6v1b2
|
UTSW |
8 |
69,556,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Atp6v1b2
|
UTSW |
8 |
69,555,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9100:Atp6v1b2
|
UTSW |
8 |
69,541,476 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTAGAAGATAAGGTCCCAGGC -3'
(R):5'- GGCTGCTTTGTTCCAGAGAG -3'
Sequencing Primer
(F):5'- GCCTCACCTAGGGAAACAGTG -3'
(R):5'- TGTTCCAGAGAGTTATTCCAACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation