Incidental Mutation 'R7079:Cyp1a2'
| ID |
549419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp1a2
|
| Ensembl Gene |
ENSMUSG00000032310 |
| Gene Name |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
| Synonyms |
aromatic compound inducible, CP12, P450-3 |
| MMRRC Submission |
045173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R7079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57584220-57590938 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57589161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 218
(I218V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034860]
|
| AlphaFold |
P00186 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034860
AA Change: I218V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: I218V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
41 |
504 |
1.7e-105 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene 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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
| 2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
| 4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
| Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
| Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
| Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
| Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
| Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
| Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
| Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
| Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
| Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
| Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
| Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
probably benign |
Het |
|
| Other mutations in Cyp1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Cyp1a2
|
APN |
9 |
57,589,352 (GRCm39) |
nonsense |
probably null |
|
|
IGL01161:Cyp1a2
|
APN |
9 |
57,587,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Cyp1a2
|
APN |
9 |
57,589,655 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01726:Cyp1a2
|
APN |
9 |
57,589,485 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01973:Cyp1a2
|
APN |
9 |
57,589,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02995:Cyp1a2
|
APN |
9 |
57,584,511 (GRCm39) |
makesense |
probably null |
|
|
IGL03349:Cyp1a2
|
APN |
9 |
57,587,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
broadway
|
UTSW |
9 |
57,584,516 (GRCm39) |
nonsense |
probably null |
|
|
PIT4515001:Cyp1a2
|
UTSW |
9 |
57,589,242 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0025:Cyp1a2
|
UTSW |
9 |
57,589,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Cyp1a2
|
UTSW |
9 |
57,589,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0582:Cyp1a2
|
UTSW |
9 |
57,587,529 (GRCm39) |
splice site |
probably benign |
|
|
R0589:Cyp1a2
|
UTSW |
9 |
57,586,345 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1239:Cyp1a2
|
UTSW |
9 |
57,589,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1988:Cyp1a2
|
UTSW |
9 |
57,589,569 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2156:Cyp1a2
|
UTSW |
9 |
57,589,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Cyp1a2
|
UTSW |
9 |
57,584,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2423:Cyp1a2
|
UTSW |
9 |
57,587,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3944:Cyp1a2
|
UTSW |
9 |
57,589,151 (GRCm39) |
missense |
probably benign |
|
|
R5225:Cyp1a2
|
UTSW |
9 |
57,584,516 (GRCm39) |
nonsense |
probably null |
|
|
R5419:Cyp1a2
|
UTSW |
9 |
57,589,794 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5471:Cyp1a2
|
UTSW |
9 |
57,586,303 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5816:Cyp1a2
|
UTSW |
9 |
57,588,336 (GRCm39) |
missense |
probably benign |
|
|
R6017:Cyp1a2
|
UTSW |
9 |
57,588,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6825:Cyp1a2
|
UTSW |
9 |
57,584,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6931:Cyp1a2
|
UTSW |
9 |
57,589,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7058:Cyp1a2
|
UTSW |
9 |
57,584,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7081:Cyp1a2
|
UTSW |
9 |
57,586,272 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7400:Cyp1a2
|
UTSW |
9 |
57,589,223 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7672:Cyp1a2
|
UTSW |
9 |
57,589,620 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8097:Cyp1a2
|
UTSW |
9 |
57,586,836 (GRCm39) |
splice site |
probably null |
|
|
R8879:Cyp1a2
|
UTSW |
9 |
57,589,168 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8926:Cyp1a2
|
UTSW |
9 |
57,588,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9083:Cyp1a2
|
UTSW |
9 |
57,587,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9206:Cyp1a2
|
UTSW |
9 |
57,589,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Cyp1a2
|
UTSW |
9 |
57,589,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Cyp1a2
|
UTSW |
9 |
57,587,562 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF007:Cyp1a2
|
UTSW |
9 |
57,589,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACTCACCTTGTTGAAGTCTTG -3'
(R):5'- AGAGCTTCTCCATAGCCTCG -3'
Sequencing Primer
(F):5'- AAGTCTTGGTAGTGCTCCTGGAC -3'
(R):5'- CCTCTTGCTATTTGGAGGAGCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation