Incidental Mutation 'R4088:Cyp2b9'
| ID |
317468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2b9
|
| Ensembl Gene |
ENSMUSG00000040660 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 9 |
| Synonyms |
phenobarbitol inducible, type a, Cyp2b |
| MMRRC Submission |
040981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4088 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25872836-25910086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25872881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 8
(L8P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082214]
|
| AlphaFold |
P12790 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082214
AA Change: L8P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: L8P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
1.7e-146 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
C |
1: 181,055,274 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12b |
G |
T |
11: 69,049,211 (GRCm39) |
V87L |
probably benign |
Het |
| Arsk |
T |
G |
13: 76,246,533 (GRCm39) |
N32T |
probably benign |
Het |
| Baz1b |
T |
A |
5: 135,245,794 (GRCm39) |
N414K |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,287,929 (GRCm39) |
|
probably null |
Het |
| Cdc73 |
A |
G |
1: 143,484,252 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,496,593 (GRCm39) |
V920E |
probably damaging |
Het |
| Eef2kmt |
A |
T |
16: 5,070,899 (GRCm39) |
I50N |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,206,290 (GRCm39) |
M40V |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gpr26 |
G |
T |
7: 131,568,805 (GRCm39) |
C50F |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,610,636 (GRCm39) |
L211Q |
unknown |
Het |
| Khdrbs2 |
A |
G |
1: 32,372,605 (GRCm39) |
E93G |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,004,904 (GRCm39) |
|
probably null |
Het |
| Kif15 |
T |
A |
9: 122,815,254 (GRCm39) |
L423I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,492,711 (GRCm39) |
V834A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,637,365 (GRCm39) |
Y28* |
probably null |
Het |
| Map4k2 |
A |
T |
19: 6,403,186 (GRCm39) |
H763L |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,202,064 (GRCm39) |
F120S |
probably damaging |
Het |
| Ndufs3 |
C |
T |
2: 90,728,689 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,523,329 (GRCm39) |
V887E |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,225,065 (GRCm39) |
E358K |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,985 (GRCm39) |
L828P |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,234 (GRCm39) |
Y299H |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,459,030 (GRCm39) |
L140H |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,125,651 (GRCm39) |
V777A |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,848 (GRCm39) |
E372G |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,627 (GRCm39) |
Y181C |
probably damaging |
Het |
| Sf1 |
G |
A |
19: 6,418,470 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,695,587 (GRCm39) |
E765G |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,758,049 (GRCm39) |
L1073P |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,757 (GRCm39) |
D101G |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,904,505 (GRCm39) |
R204G |
probably benign |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,748,114 (GRCm39) |
Q4312* |
probably null |
Het |
| Ubtfl1 |
T |
C |
9: 18,321,264 (GRCm39) |
V264A |
probably damaging |
Het |
| Vmn1r58 |
C |
A |
7: 5,413,654 (GRCm39) |
W192L |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,211,711 (GRCm39) |
C969F |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,777,131 (GRCm39) |
K296R |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp9 |
G |
T |
6: 118,441,730 (GRCm39) |
P311T |
probably damaging |
Het |
|
| Other mutations in Cyp2b9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Cyp2b9
|
APN |
7 |
25,897,930 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01133:Cyp2b9
|
APN |
7 |
25,909,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01331:Cyp2b9
|
APN |
7 |
25,887,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02281:Cyp2b9
|
APN |
7 |
25,900,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02502:Cyp2b9
|
APN |
7 |
25,887,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02713:Cyp2b9
|
APN |
7 |
25,872,945 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03032:Cyp2b9
|
APN |
7 |
25,898,025 (GRCm39) |
splice site |
probably benign |
|
|
IGL03307:Cyp2b9
|
APN |
7 |
25,898,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0010:Cyp2b9
|
UTSW |
7 |
25,886,178 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Cyp2b9
|
UTSW |
7 |
25,900,238 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0040:Cyp2b9
|
UTSW |
7 |
25,872,899 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0184:Cyp2b9
|
UTSW |
7 |
25,886,432 (GRCm39) |
nonsense |
probably null |
|
|
R0370:Cyp2b9
|
UTSW |
7 |
25,909,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Cyp2b9
|
UTSW |
7 |
25,900,332 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1751:Cyp2b9
|
UTSW |
7 |
25,886,100 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1835:Cyp2b9
|
UTSW |
7 |
25,900,208 (GRCm39) |
missense |
probably benign |
|
|
R1879:Cyp2b9
|
UTSW |
7 |
25,897,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2256:Cyp2b9
|
UTSW |
7 |
25,873,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2257:Cyp2b9
|
UTSW |
7 |
25,873,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2418:Cyp2b9
|
UTSW |
7 |
25,886,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3420:Cyp2b9
|
UTSW |
7 |
25,909,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Cyp2b9
|
UTSW |
7 |
25,897,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4495:Cyp2b9
|
UTSW |
7 |
25,900,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4615:Cyp2b9
|
UTSW |
7 |
25,900,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Cyp2b9
|
UTSW |
7 |
25,887,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Cyp2b9
|
UTSW |
7 |
25,887,080 (GRCm39) |
missense |
probably benign |
|
|
R5862:Cyp2b9
|
UTSW |
7 |
25,887,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6237:Cyp2b9
|
UTSW |
7 |
25,872,999 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6445:Cyp2b9
|
UTSW |
7 |
25,886,412 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6992:Cyp2b9
|
UTSW |
7 |
25,900,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Cyp2b9
|
UTSW |
7 |
25,898,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Cyp2b9
|
UTSW |
7 |
25,886,367 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7816:Cyp2b9
|
UTSW |
7 |
25,900,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7850:Cyp2b9
|
UTSW |
7 |
25,886,111 (GRCm39) |
nonsense |
probably null |
|
|
R8734:Cyp2b9
|
UTSW |
7 |
25,898,035 (GRCm39) |
intron |
probably benign |
|
|
R8790:Cyp2b9
|
UTSW |
7 |
25,898,167 (GRCm39) |
intron |
probably benign |
|
|
R8839:Cyp2b9
|
UTSW |
7 |
25,900,185 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9209:Cyp2b9
|
UTSW |
7 |
25,873,004 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9723:Cyp2b9
|
UTSW |
7 |
25,909,596 (GRCm39) |
nonsense |
probably null |
|
|
R9787:Cyp2b9
|
UTSW |
7 |
25,900,259 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Cyp2b9
|
UTSW |
7 |
25,900,588 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCAGGTAGGAACTATGG -3'
(R):5'- CCAACAGCTCCTTCCAATGATTG -3'
Sequencing Primer
(F):5'- GTAGGAACTATGGTGCTCACATTCC -3'
(R):5'- ACAGCTCCTTCCAATGATTGACCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation