Incidental Mutation 'R2423:Cyp1a2'
ID 249443
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 040385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R2423 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 57584220-57590938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57587232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 353 (R353Q)
Ref Sequence ENSEMBL: ENSMUSP00000034860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034860]
AlphaFold P00186
Predicted Effect probably damaging
Transcript: ENSMUST00000034860
AA Change: R353Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: R353Q

DomainStartEndE-ValueType
Pfam:p450 41 504 1.7e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215792
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer2 T C 14: 60,616,656 (GRCm39) S284P possibly damaging Het
Ap5z1 T C 5: 142,462,532 (GRCm39) V614A probably benign Het
Arhgap9 A T 10: 127,162,993 (GRCm39) probably null Het
Brf1 G A 12: 112,963,819 (GRCm39) A53V probably benign Het
Deup1 G T 9: 15,503,754 (GRCm39) S269* probably null Het
F11r T A 1: 171,289,191 (GRCm39) Y218N possibly damaging Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Mapkbp1 A T 2: 119,855,071 (GRCm39) E1430V probably benign Het
Mga A G 2: 119,795,274 (GRCm39) K2986R probably damaging Het
Myo9b G T 8: 71,780,584 (GRCm39) V494L probably damaging Het
Nbea G A 3: 55,992,727 (GRCm39) T293I probably damaging Het
Neto2 C T 8: 86,396,396 (GRCm39) R83Q probably damaging Het
Ocm A T 5: 143,961,388 (GRCm39) probably null Het
Or52z14 C T 7: 103,253,241 (GRCm39) R127C probably benign Het
Pcdha11 T C 18: 37,140,477 (GRCm39) I702T possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rbbp8nl A T 2: 179,922,764 (GRCm39) S210T probably damaging Het
Rbl2 A T 8: 91,813,774 (GRCm39) I340F probably benign Het
Rft1 T C 14: 30,388,724 (GRCm39) L216P possibly damaging Het
Slc26a10 T A 10: 127,015,606 (GRCm39) probably null Het
Slc34a1 G A 13: 55,556,865 (GRCm39) A235T possibly damaging Het
Spag17 A G 3: 100,010,772 (GRCm39) T2089A probably benign Het
Srek1 G C 13: 103,889,536 (GRCm39) S260* probably null Het
Sspo T C 6: 48,430,989 (GRCm39) V624A probably benign Het
Tapt1 T C 5: 44,349,795 (GRCm39) I251V probably benign Het
Tmem248 T C 5: 130,258,403 (GRCm39) I32T probably damaging Het
Tnk1 T G 11: 69,746,587 (GRCm39) T209P probably damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Trp53tg5 T A 2: 164,313,250 (GRCm39) R142* probably null Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vldlr C T 19: 27,213,688 (GRCm39) T125I possibly damaging Het
Vps8 A G 16: 21,378,087 (GRCm39) T1033A probably benign Het
Wiz A C 17: 32,580,859 (GRCm39) H197Q 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
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
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'- ATCCTGATTTGGGGCCAGAG -3'
(R):5'- ATGTGCCCACTATGAGTAAGCC -3'

Sequencing Primer
(F):5'- CCAGAGCTGGGAAGTTGG -3'
(R):5'- GCCCACTATGAGTAAGCCCTAGG -3'
Posted On 2014-11-12