Incidental Mutation 'R6470:Cyp2b10'
| ID |
516474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2b10
|
| Ensembl Gene |
ENSMUSG00000030483 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 10 |
| Synonyms |
p16, Cyp2b, Cyp2b20, phenobarbitol inducible, type b |
| MMRRC Submission |
044603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25597083-25626049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25611081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 146
(I146T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005477]
[ENSMUST00000072438]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005477
AA Change: I146T
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: I146T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
497 |
4.1e-149 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072438
AA Change: I146T
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: I146T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
2e-152 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,815,285 (GRCm39) |
Q12L |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
| Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
| Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,102,199 (GRCm39) |
D166G |
probably damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
| Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
| Sardh |
C |
T |
2: 27,134,384 (GRCm39) |
R44Q |
probably damaging |
Het |
| Scaf4 |
C |
T |
16: 90,026,526 (GRCm39) |
W1072* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,791 (GRCm39) |
K201E |
probably damaging |
Het |
| Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,918 (GRCm39) |
D90G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
probably benign |
Het |
|
| Other mutations in Cyp2b10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02270:Cyp2b10
|
APN |
7 |
25,613,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02341:Cyp2b10
|
APN |
7 |
25,610,667 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02557:Cyp2b10
|
APN |
7 |
25,614,306 (GRCm39) |
missense |
probably benign |
|
|
R0038:Cyp2b10
|
UTSW |
7 |
25,614,287 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0393:Cyp2b10
|
UTSW |
7 |
25,614,359 (GRCm39) |
splice site |
probably benign |
|
|
R0569:Cyp2b10
|
UTSW |
7 |
25,597,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Cyp2b10
|
UTSW |
7 |
25,616,473 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1262:Cyp2b10
|
UTSW |
7 |
25,614,836 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1282:Cyp2b10
|
UTSW |
7 |
25,625,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Cyp2b10
|
UTSW |
7 |
25,624,813 (GRCm39) |
intron |
probably benign |
|
|
R2163:Cyp2b10
|
UTSW |
7 |
25,624,810 (GRCm39) |
intron |
probably benign |
|
|
R4520:Cyp2b10
|
UTSW |
7 |
25,610,982 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4831:Cyp2b10
|
UTSW |
7 |
25,614,921 (GRCm39) |
nonsense |
probably null |
|
|
R5201:Cyp2b10
|
UTSW |
7 |
25,616,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Cyp2b10
|
UTSW |
7 |
25,613,414 (GRCm39) |
nonsense |
probably null |
|
|
R5586:Cyp2b10
|
UTSW |
7 |
25,616,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Cyp2b10
|
UTSW |
7 |
25,625,648 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6043:Cyp2b10
|
UTSW |
7 |
25,616,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6991:Cyp2b10
|
UTSW |
7 |
25,616,780 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7567:Cyp2b10
|
UTSW |
7 |
25,614,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Cyp2b10
|
UTSW |
7 |
25,597,185 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8131:Cyp2b10
|
UTSW |
7 |
25,614,242 (GRCm39) |
nonsense |
probably null |
|
|
R8486:Cyp2b10
|
UTSW |
7 |
25,614,306 (GRCm39) |
missense |
probably benign |
|
|
R8988:Cyp2b10
|
UTSW |
7 |
25,625,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Cyp2b10
|
UTSW |
7 |
25,624,815 (GRCm39) |
missense |
unknown |
|
|
R9286:Cyp2b10
|
UTSW |
7 |
25,616,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGAGGAAGGTAAGGGC -3'
(R):5'- TGTTCATGCGTGTGTGGG -3'
Sequencing Primer
(F):5'- TAAGGGCTGGGGAAGGACC -3'
(R):5'- TGCATGTGTATTTGTGTCTATGAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation