Incidental Mutation 'R4412:Cyp2b9'
| ID |
327965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2b9
|
| Ensembl Gene |
ENSMUSG00000040660 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 9 |
| Synonyms |
16\alphaoh-a, phenobarbitol inducible, type a, Cyp2b |
| MMRRC Submission |
041135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26173411-26210661 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26198443 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 224
(L224R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082214]
|
| AlphaFold |
P12790 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082214
AA Change: L224R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: L224R
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,577,453 (GRCm38) |
|
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,246,114 (GRCm38) |
K144E |
probably benign |
Het |
| Alpl |
A |
G |
4: 137,758,628 (GRCm38) |
I2T |
possibly damaging |
Het |
| Chdh |
G |
T |
14: 30,031,715 (GRCm38) |
G194C |
probably damaging |
Het |
| Cp |
A |
T |
3: 19,966,353 (GRCm38) |
D170V |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,290,001 (GRCm38) |
K132E |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,848,761 (GRCm38) |
N153S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,073,683 (GRCm38) |
Y2423C |
probably damaging |
Het |
| Dnajc14 |
G |
T |
10: 128,806,205 (GRCm38) |
|
probably benign |
Het |
| Eipr1 |
A |
T |
12: 28,859,373 (GRCm38) |
D213V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,023,599 (GRCm38) |
V1894A |
probably damaging |
Het |
| Flrt2 |
G |
A |
12: 95,780,273 (GRCm38) |
V462I |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,436,860 (GRCm38) |
E954G |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,634,718 (GRCm38) |
H593R |
probably damaging |
Het |
| Gpr21 |
C |
G |
2: 37,517,432 (GRCm38) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,866,796 (GRCm38) |
M139T |
probably benign |
Het |
| Hydin |
C |
T |
8: 110,415,736 (GRCm38) |
T749I |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,399,560 (GRCm38) |
P620S |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,102,874 (GRCm38) |
T71A |
possibly damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,230,443 (GRCm38) |
N33S |
probably benign |
Het |
| Nisch |
A |
G |
14: 31,186,658 (GRCm38) |
|
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,644,150 (GRCm38) |
C593Y |
probably damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,149 (GRCm38) |
T164R |
probably benign |
Het |
| Olfr1231 |
A |
G |
2: 89,303,340 (GRCm38) |
I84T |
probably benign |
Het |
| Palld |
A |
G |
8: 61,687,372 (GRCm38) |
Y534H |
probably damaging |
Het |
| Pcdhb10 |
TC |
T |
18: 37,414,141 (GRCm38) |
|
probably null |
Het |
| Plekhg3 |
A |
C |
12: 76,577,764 (GRCm38) |
T1127P |
probably damaging |
Het |
| Podnl1 |
A |
T |
8: 84,130,665 (GRCm38) |
H301L |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,124,511 (GRCm38) |
V399A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,100,255 (GRCm38) |
N172K |
possibly damaging |
Het |
| Sin3b |
C |
T |
8: 72,739,779 (GRCm38) |
A291V |
probably benign |
Het |
| Slc12a6 |
A |
T |
2: 112,335,888 (GRCm38) |
Q204L |
possibly damaging |
Het |
| Snx9 |
C |
T |
17: 5,908,394 (GRCm38) |
T249M |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,197,002 (GRCm38) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 23,810,468 (GRCm38) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,106,060 (GRCm38) |
H6674Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,335,232 (GRCm38) |
|
probably null |
Het |
| Vmn1r115 |
C |
T |
7: 20,844,282 (GRCm38) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 10,050,308 (GRCm38) |
F80V |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,175,187 (GRCm38) |
R236H |
probably damaging |
Het |
|
| Other mutations in Cyp2b9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Cyp2b9
|
APN |
7 |
26,198,505 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01133:Cyp2b9
|
APN |
7 |
26,210,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01331:Cyp2b9
|
APN |
7 |
26,187,715 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02281:Cyp2b9
|
APN |
7 |
26,201,104 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02502:Cyp2b9
|
APN |
7 |
26,187,814 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02713:Cyp2b9
|
APN |
7 |
26,173,520 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03032:Cyp2b9
|
APN |
7 |
26,198,600 (GRCm38) |
splice site |
probably benign |
|
|
IGL03307:Cyp2b9
|
APN |
7 |
26,199,051 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0010:Cyp2b9
|
UTSW |
7 |
26,186,753 (GRCm38) |
splice site |
probably benign |
|
|
R0025:Cyp2b9
|
UTSW |
7 |
26,200,813 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0040:Cyp2b9
|
UTSW |
7 |
26,173,474 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0184:Cyp2b9
|
UTSW |
7 |
26,187,007 (GRCm38) |
nonsense |
probably null |
|
|
R0370:Cyp2b9
|
UTSW |
7 |
26,210,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1595:Cyp2b9
|
UTSW |
7 |
26,200,907 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1751:Cyp2b9
|
UTSW |
7 |
26,186,675 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1835:Cyp2b9
|
UTSW |
7 |
26,200,783 (GRCm38) |
missense |
probably benign |
|
|
R1879:Cyp2b9
|
UTSW |
7 |
26,198,569 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2256:Cyp2b9
|
UTSW |
7 |
26,173,605 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2257:Cyp2b9
|
UTSW |
7 |
26,173,605 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2418:Cyp2b9
|
UTSW |
7 |
26,186,707 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3420:Cyp2b9
|
UTSW |
7 |
26,210,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4088:Cyp2b9
|
UTSW |
7 |
26,173,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4495:Cyp2b9
|
UTSW |
7 |
26,200,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4615:Cyp2b9
|
UTSW |
7 |
26,201,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5375:Cyp2b9
|
UTSW |
7 |
26,187,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5426:Cyp2b9
|
UTSW |
7 |
26,187,655 (GRCm38) |
missense |
probably benign |
|
|
R5862:Cyp2b9
|
UTSW |
7 |
26,187,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6237:Cyp2b9
|
UTSW |
7 |
26,173,574 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6445:Cyp2b9
|
UTSW |
7 |
26,186,987 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6992:Cyp2b9
|
UTSW |
7 |
26,201,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7515:Cyp2b9
|
UTSW |
7 |
26,199,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7654:Cyp2b9
|
UTSW |
7 |
26,186,942 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7816:Cyp2b9
|
UTSW |
7 |
26,201,092 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7850:Cyp2b9
|
UTSW |
7 |
26,186,686 (GRCm38) |
nonsense |
probably null |
|
|
R8734:Cyp2b9
|
UTSW |
7 |
26,198,610 (GRCm38) |
intron |
probably benign |
|
|
R8790:Cyp2b9
|
UTSW |
7 |
26,198,742 (GRCm38) |
intron |
probably benign |
|
|
R8839:Cyp2b9
|
UTSW |
7 |
26,200,760 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9209:Cyp2b9
|
UTSW |
7 |
26,173,579 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9723:Cyp2b9
|
UTSW |
7 |
26,210,171 (GRCm38) |
nonsense |
probably null |
|
|
R9787:Cyp2b9
|
UTSW |
7 |
26,200,834 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1177:Cyp2b9
|
UTSW |
7 |
26,201,163 (GRCm38) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGGAGGGGCAACTAGGAG -3'
(R):5'- AGAGGTTCTGCATCTCCTCC -3'
Sequencing Primer
(F):5'- CAACTAGGAGAGGGGATAACATTTG -3'
(R):5'- TGACCACATCCCTATTCATCAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation