Incidental Mutation 'R6637:Atp6v1b2'
ID |
525530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp6v1b2
|
Ensembl Gene |
ENSMUSG00000006273 |
Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit B2 |
Synonyms |
HO57, Atp6b2 |
MMRRC Submission |
044758-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6637 (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: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
Validation Efficiency |
100% (34/34) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
Adh1 |
T |
A |
3: 137,988,231 (GRCm39) |
C98* |
probably null |
Het |
Alms1 |
A |
G |
6: 85,596,716 (GRCm39) |
H514R |
possibly damaging |
Het |
Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
Col3a1 |
C |
T |
1: 45,386,890 (GRCm39) |
T234I |
probably damaging |
Het |
Cxadr |
C |
T |
16: 78,130,391 (GRCm39) |
T186M |
possibly damaging |
Het |
Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
Fbxo16 |
A |
G |
14: 65,533,210 (GRCm39) |
|
probably null |
Het |
Fign |
A |
G |
2: 63,858,252 (GRCm39) |
|
probably benign |
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 |
Invs |
G |
A |
4: 48,416,203 (GRCm39) |
|
probably null |
Het |
Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
Kcnk5 |
A |
C |
14: 20,194,789 (GRCm39) |
M183R |
probably null |
Het |
Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
Lrrc8b |
A |
C |
5: 105,628,137 (GRCm39) |
D161A |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 103,057,293 (GRCm39) |
F169Y |
probably benign |
Het |
Lsamp |
T |
A |
16: 41,353,743 (GRCm39) |
V2D |
possibly damaging |
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 |
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 |
Or5t15 |
T |
G |
2: 86,681,784 (GRCm39) |
K86T |
probably benign |
Het |
Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
Ston2 |
G |
C |
12: 91,680,886 (GRCm39) |
T126S |
probably damaging |
Het |
Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
Tbr1 |
A |
G |
2: 61,641,974 (GRCm39) |
D150G |
probably benign |
Het |
Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
Ubxn4 |
C |
A |
1: 128,204,824 (GRCm39) |
Q505K |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,053,200 (GRCm39) |
E405G |
probably damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,650 (GRCm39) |
I742F |
probably damaging |
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 |
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'- GCACTAGTTTGCCACTTTGTAC -3'
(R):5'- CCAAGAGCTGAGTTAGGTACC -3'
Sequencing Primer
(F):5'- ACTAGTTTGCCACTTTGTACACTAG -3'
(R):5'- ATCCGATCGCCAGTGAATG -3'
|
Posted On |
2018-06-22 |