|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 1, subfamily a, polypeptide 2|
|Synonyms||CP12, aromatic compound inducible, P450-3|
|Is this an essential gene?||Probably non essential (E-score: 0.184)|
|Stock #||R7079 (G1)|
|Chromosomal Location||57676937-57683703 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 57681878 bp|
|Amino Acid Change||Isoleucine to Valine at position 218 (I218V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034860 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034860]|
|Predicted Effect||probably benign
AA Change: I218V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: I218V
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
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||
|Other mutations in Cyp1a2||
(F):5'- CAGACTCACCTTGTTGAAGTCTTG -3'
(R):5'- AGAGCTTCTCCATAGCCTCG -3'
(F):5'- AAGTCTTGGTAGTGCTCCTGGAC -3'
(R):5'- CCTCTTGCTATTTGGAGGAGCAC -3'