Incidental Mutation 'IGL01973:Cyp1a2'
ID 182609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp1a2
Ensembl Gene ENSMUSG00000032310
Gene Name cytochrome P450, family 1, subfamily a, polypeptide 2
Synonyms aromatic compound inducible, CP12, P450-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # IGL01973
Quality Score
Status
Chromosome 9
Chromosomal Location 57584220-57590938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57589678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 45 (W45C)
Ref Sequence ENSEMBL: ENSMUSP00000034860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034860]
AlphaFold P00186
Predicted Effect probably damaging
Transcript: ENSMUST00000034860
AA Change: W45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: W45C

DomainStartEndE-ValueType
Pfam:p450 41 504 1.7e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215792
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,061,172 (GRCm39) W59R probably damaging Het
Adam17 C T 12: 21,399,944 (GRCm39) R154K probably damaging Het
Ajm1 G T 2: 25,469,584 (GRCm39) S109* probably null Het
Atp9b A T 18: 80,801,518 (GRCm39) F791I probably benign Het
Atr T G 9: 95,753,727 (GRCm39) S776R probably damaging Het
AW554918 A T 18: 25,553,056 (GRCm39) T487S probably damaging Het
Bckdhb T A 9: 83,873,789 (GRCm39) F217Y probably benign Het
Cacna1i G A 15: 80,266,234 (GRCm39) A1574T probably damaging Het
Ccdc150 G A 1: 54,339,647 (GRCm39) probably null Het
Clca4c-ps A T 3: 144,585,593 (GRCm39) noncoding transcript Het
Clec4a1 T C 6: 122,907,680 (GRCm39) S123P probably damaging Het
Col6a4 T C 9: 105,940,093 (GRCm39) Y1279C probably damaging Het
Cox8c T A 12: 102,865,626 (GRCm39) M1K probably null Het
Crat G T 2: 30,295,493 (GRCm39) S370Y probably damaging Het
Cts7 A T 13: 61,503,414 (GRCm39) D183E probably benign Het
Eml5 T A 12: 98,829,539 (GRCm39) I492L probably benign Het
Fbxl4 T G 4: 22,422,766 (GRCm39) L456R probably damaging Het
Flt1 G T 5: 147,620,699 (GRCm39) H148Q probably benign Het
Galnt3 T C 2: 65,914,606 (GRCm39) M604V probably benign Het
Gatb T C 3: 85,518,731 (GRCm39) V279A probably damaging Het
Heatr1 C A 13: 12,444,680 (GRCm39) H1543Q probably benign Het
Ighg2b C T 12: 113,271,305 (GRCm39) V83I unknown Het
Jcad A G 18: 4,675,514 (GRCm39) Q1092R probably benign Het
Kirrel3 A G 9: 34,927,764 (GRCm39) E6G probably damaging Het
Klhl22 A G 16: 17,610,575 (GRCm39) S609G probably benign Het
Kntc1 A G 5: 123,904,021 (GRCm39) Y346C probably damaging Het
Maneal T C 4: 124,752,948 (GRCm39) D233G probably benign Het
Mcm3ap T C 10: 76,306,951 (GRCm39) S355P probably benign Het
Mtus2 C T 5: 148,240,286 (GRCm39) probably benign Het
Muc4 A G 16: 32,575,383 (GRCm39) T1380A probably benign Het
Nedd4 T A 9: 72,644,216 (GRCm39) M661K possibly damaging Het
Nomo1 T C 7: 45,732,651 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,689 (GRCm39) I98T probably benign Het
Ntsr2 T A 12: 16,706,775 (GRCm39) W268R probably benign Het
Nup188 A C 2: 30,229,862 (GRCm39) Q1360P possibly damaging Het
Or2c1 A T 16: 3,657,641 (GRCm39) Q268L probably damaging Het
Or6k6 A G 1: 173,945,099 (GRCm39) F161S probably damaging Het
Pabpc1 A T 15: 36,599,519 (GRCm39) V392E probably benign Het
Pcdhb11 C A 18: 37,556,565 (GRCm39) R632S probably damaging Het
Phf11 A G 14: 59,488,578 (GRCm39) V73A probably benign Het
Pnpla6 T A 8: 3,567,619 (GRCm39) M87K probably damaging Het
Prkd1 C T 12: 50,413,162 (GRCm39) G670R probably damaging Het
Raf1 G A 6: 115,653,530 (GRCm39) probably benign Het
Rapgef2 T A 3: 78,999,116 (GRCm39) probably null Het
Rnf215 A T 11: 4,086,615 (GRCm39) H164L probably damaging Het
Slc24a3 T C 2: 145,086,947 (GRCm39) V19A probably benign Het
Tbc1d16 A T 11: 119,047,533 (GRCm39) V396E probably benign Het
Tecpr1 T C 5: 144,134,806 (GRCm39) probably benign Het
Thap12 T A 7: 98,365,706 (GRCm39) Y625N possibly damaging Het
Tshz2 A T 2: 169,726,603 (GRCm39) M400L probably damaging Het
Ttc28 A G 5: 111,372,101 (GRCm39) Y850C possibly damaging Het
Ugt1a7c A G 1: 88,022,856 (GRCm39) D5G probably benign Het
Vmn2r10 C T 5: 109,143,543 (GRCm39) M802I probably damaging Het
Washc4 T C 10: 83,391,973 (GRCm39) Y220H probably damaging Het
Zfhx3 T A 8: 109,673,825 (GRCm39) M1625K probably damaging Het
Zfp677 T A 17: 21,617,169 (GRCm39) N75K probably damaging Het
Zzz3 T C 3: 152,134,007 (GRCm39) V355A probably benign 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
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
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
Posted On 2014-05-07