Incidental Mutation 'R6636:Atp6v1b2'
| ID |
525464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v1b2
|
| Ensembl Gene |
ENSMUSG00000006273 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit B2 |
| Synonyms |
HO57, Atp6b2 |
| MMRRC Submission |
044757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6636 (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 69554026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 68
(Y68H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006435]
|
| AlphaFold |
P62814 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006435
AA Change: Y68H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: Y68H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153680
|
| Meta Mutation Damage Score |
0.8256 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (41/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
| Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
| Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
| Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
| Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
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 |
|
|
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 |
|
R8168:Atp6v1b2
|
UTSW |
8 |
69,560,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- GTACCTTGCACTAGTTTGCCAC -3'
(R):5'- CTGAGTTAGGTACCATTTTGATGGC -3'
Sequencing Primer
(F):5'- ACTAGTTTGCCACTTTGTACACTAG -3'
(R):5'- ATCCGATCGCCAGTGAATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation