Incidental Mutation 'R1239:Cyp1a2'
ID 151888
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 039306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R1239 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57584220-57590938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57589050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 255 (F255L)
Ref Sequence ENSEMBL: ENSMUSP00000034860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034860]
AlphaFold P00186
Predicted Effect probably benign
Transcript: ENSMUST00000034860
AA Change: F255L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: F255L

DomainStartEndE-ValueType
Pfam:p450 41 504 1.7e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215792
Meta Mutation Damage Score 0.1769 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (44/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Adcy8 G T 15: 64,587,911 (GRCm39) R959S probably damaging Het
Ank1 A G 8: 23,586,171 (GRCm39) N455D probably damaging Het
Ankrd17 T C 5: 90,436,535 (GRCm39) T589A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Celsr1 G T 15: 85,863,347 (GRCm39) N1228K probably damaging Het
Ces4a T C 8: 105,876,130 (GRCm39) L557P probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Clba1 A G 12: 112,773,123 (GRCm39) R39G probably benign Het
Col27a1 T C 4: 63,237,152 (GRCm39) probably benign Het
Cplx2 G T 13: 54,527,415 (GRCm39) A100S probably damaging Het
Cpsf6 G A 10: 117,197,248 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,492,313 (GRCm39) Y783H probably damaging Het
E230025N22Rik T C 18: 36,818,528 (GRCm39) I434V probably damaging Het
Ermap T C 4: 119,046,122 (GRCm39) K3E probably benign Het
Gatd3a A G 10: 78,004,761 (GRCm39) probably benign Het
Gstm2 G A 3: 107,891,344 (GRCm39) L125F possibly damaging Het
Hk2 C T 6: 82,726,289 (GRCm39) G58R probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Matcap2 GTTCTTC GTTC 9: 22,335,995 (GRCm39) probably benign Het
Mgmt T C 7: 136,729,786 (GRCm39) F200S probably benign Het
Mug2 T G 6: 122,058,637 (GRCm39) probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or5an11 G T 19: 12,246,340 (GRCm39) V249F probably damaging Het
Or5b109 G A 19: 13,212,040 (GRCm39) C142Y possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Phc3 A G 3: 30,968,279 (GRCm39) V886A probably damaging Het
Plcg2 T A 8: 118,282,783 (GRCm39) V88D probably benign Het
Podxl2 C T 6: 88,826,965 (GRCm39) V50I probably benign Het
Rap1gap G T 4: 137,445,307 (GRCm39) M329I probably damaging Het
Rbm5 A G 9: 107,630,165 (GRCm39) probably benign Het
Robo1 A G 16: 72,821,430 (GRCm39) probably null Het
Ryr2 A T 13: 11,897,929 (GRCm39) probably null Het
Skida1 A C 2: 18,052,128 (GRCm39) probably benign Het
Tecta A G 9: 42,243,781 (GRCm39) F2024L probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Vmn1r16 C T 6: 57,300,618 (GRCm39) M1I probably null Het
Zbtb39 G T 10: 127,578,938 (GRCm39) G504V probably damaging Het
Zfp1004 T C 2: 150,033,891 (GRCm39) Y71H possibly damaging Het
Zfp106 A T 2: 120,364,075 (GRCm39) N777K probably damaging Het
Other mutations in Cyp1a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7079:Cyp1a2 UTSW 9 57,589,161 (GRCm39) missense probably benign
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'- ATTGCAAAGCTCGCCAAGGCTC -3'
(R):5'- GCTAACCATCTCGTCAGCAAGCTTC -3'

Sequencing Primer
(F):5'- GTTTGGAACAGTCCCCAGAG -3'
(R):5'- TCGTCAGCAAGCTTCAGAAGG -3'
Posted On 2014-01-29