Incidental Mutation 'R1481:Cyp2f2'
ID 164369
Institutional Source Beutler Lab
Gene Symbol Cyp2f2
Ensembl Gene ENSMUSG00000052974
Gene Name cytochrome P450, family 2, subfamily f, polypeptide 2
Synonyms Cyp2f
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 26819380-26833085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26821302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 72 (S72P)
Ref Sequence ENSEMBL: ENSMUSP00000003100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003100] [ENSMUST00000206552]
AlphaFold P33267
Predicted Effect probably benign
Transcript: ENSMUST00000003100
AA Change: S72P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: S72P

signal peptide 1 28 N/A INTRINSIC
Pfam:p450 31 488 3.7e-152 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153562
Predicted Effect probably benign
Transcript: ENSMUST00000206552
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
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. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 A G 6: 43,251,568 (GRCm39) H773R probably damaging Het
Bltp1 T C 3: 37,062,583 (GRCm39) V3365A probably damaging Het
Bmp3 G A 5: 99,020,329 (GRCm39) V251M probably damaging Het
Ccdc175 C A 12: 72,148,722 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,238,678 (GRCm39) G313D probably benign Het
Cd300ld2 T A 11: 114,903,459 (GRCm39) I129F probably benign Het
Cep170 T C 1: 176,609,951 (GRCm39) Q120R possibly damaging Het
Ckb T C 12: 111,637,696 (GRCm39) H145R probably benign Het
Cntnap5a T A 1: 116,045,393 (GRCm39) N336K probably damaging Het
Coil T A 11: 88,864,886 (GRCm39) C38S possibly damaging Het
Cps1 T C 1: 67,183,041 (GRCm39) V133A probably damaging Het
Cspg4 A G 9: 56,795,094 (GRCm39) E943G probably damaging Het
Cyp2c54 C T 19: 40,036,032 (GRCm39) D293N probably benign Het
Dip2c G A 13: 9,601,902 (GRCm39) probably null Het
Dock6 T C 9: 21,731,918 (GRCm39) T1158A probably benign Het
Dscaml1 G A 9: 45,583,941 (GRCm39) V469I probably benign Het
Efcab14 A G 4: 115,613,714 (GRCm39) T221A probably benign Het
Ehbp1 T C 11: 21,956,782 (GRCm39) *1207W probably null Het
Eln T C 5: 134,735,426 (GRCm39) K786E probably damaging Het
Fyb1 C T 15: 6,649,128 (GRCm39) P385S probably benign Het
Galr1 A G 18: 82,423,866 (GRCm39) I137T possibly damaging Het
Gcm1 A T 9: 77,966,999 (GRCm39) K73* probably null Het
Gemin5 T C 11: 58,032,480 (GRCm39) N775D probably damaging Het
Gli3 C T 13: 15,788,435 (GRCm39) H147Y probably damaging Het
Gm10754 G T 10: 97,518,089 (GRCm39) probably benign Het
Gpr37 T C 6: 25,669,137 (GRCm39) D569G probably damaging Het
Grina T A 15: 76,133,289 (GRCm39) Y286N probably damaging Het
Gtf3c1 C A 7: 125,292,310 (GRCm39) probably null Het
Kcnc4 C T 3: 107,355,534 (GRCm39) V305M probably benign Het
Kntc1 T C 5: 123,916,338 (GRCm39) F724L probably benign Het
Kpnb1 T C 11: 97,069,136 (GRCm39) Y249C probably damaging Het
Krt6b T C 15: 101,586,809 (GRCm39) T269A probably benign Het
Lamc1 T C 1: 153,097,380 (GRCm39) K1555E probably damaging Het
Maneal T C 4: 124,755,650 (GRCm39) Y104C probably damaging Het
Map1b T C 13: 99,567,679 (GRCm39) T1681A unknown Het
Mettl17 T C 14: 52,128,160 (GRCm39) L272P probably benign Het
Mib2 T A 4: 155,741,456 (GRCm39) S357C probably benign Het
Mmp19 C A 10: 128,634,047 (GRCm39) T316K possibly damaging Het
Mroh9 C T 1: 162,854,078 (GRCm39) G774E probably damaging Het
Myh1 T C 11: 67,096,325 (GRCm39) probably benign Het
Ncor2 C A 5: 125,104,202 (GRCm39) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm39) T51S probably benign Het
Nsun3 A T 16: 62,555,732 (GRCm39) C265S probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nutm2 T A 13: 50,623,517 (GRCm39) N71K probably damaging Het
Or10a5 T G 7: 106,635,356 (GRCm39) L5R probably benign Het
Or5p73 C T 7: 108,065,167 (GRCm39) T212I probably benign Het
Orc3 T A 4: 34,607,228 (GRCm39) E34V possibly damaging Het
Pcdhb13 T A 18: 37,575,889 (GRCm39) L89Q probably damaging Het
Polr3a A T 14: 24,502,616 (GRCm39) V1241E probably null Het
Prpf39 C T 12: 65,100,088 (GRCm39) P135S probably damaging Het
Psrc1 T C 3: 108,292,309 (GRCm39) V34A probably benign Het
Rab27a G A 9: 72,989,684 (GRCm39) V52M probably benign Het
Rassf9 A G 10: 102,381,895 (GRCm39) T424A probably benign Het
Ripor3 G T 2: 167,842,297 (GRCm39) R61S possibly damaging Het
Ryr3 C T 2: 112,466,867 (GRCm39) probably benign Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Setbp1 C T 18: 78,826,516 (GRCm39) V1366M probably benign Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Tctn2 T C 5: 124,745,826 (GRCm39) noncoding transcript Het
Tmem45a A T 16: 56,631,965 (GRCm39) F218I possibly damaging Het
Tpte A T 8: 22,845,487 (GRCm39) R512S probably damaging Het
Trim37 T A 11: 87,020,585 (GRCm39) L22* probably null Het
Ttc6 A G 12: 57,783,916 (GRCm39) N1792D probably damaging Het
Ttn A G 2: 76,775,960 (GRCm39) M1694T probably damaging Het
Vmn1r181 T A 7: 23,684,137 (GRCm39) W201R probably damaging Het
Wdr74 C T 19: 8,715,592 (GRCm39) L198F possibly damaging Het
Zfp560 T C 9: 20,260,086 (GRCm39) T259A probably benign Het
Other mutations in Cyp2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Cyp2f2 APN 7 26,821,354 (GRCm39) missense probably damaging 0.98
IGL00953:Cyp2f2 APN 7 26,829,242 (GRCm39) missense possibly damaging 0.47
IGL01781:Cyp2f2 APN 7 26,829,846 (GRCm39) missense probably benign 0.20
IGL02817:Cyp2f2 APN 7 26,828,740 (GRCm39) missense probably damaging 1.00
IGL03027:Cyp2f2 APN 7 26,831,996 (GRCm39) missense possibly damaging 0.95
R0464:Cyp2f2 UTSW 7 26,831,962 (GRCm39) missense probably benign 0.00
R1635:Cyp2f2 UTSW 7 26,829,149 (GRCm39) missense probably benign 0.11
R1826:Cyp2f2 UTSW 7 26,831,987 (GRCm39) missense probably damaging 1.00
R1989:Cyp2f2 UTSW 7 26,828,628 (GRCm39) missense probably damaging 1.00
R5098:Cyp2f2 UTSW 7 26,829,304 (GRCm39) missense possibly damaging 0.52
R6305:Cyp2f2 UTSW 7 26,828,649 (GRCm39) missense probably damaging 1.00
R6472:Cyp2f2 UTSW 7 26,828,649 (GRCm39) missense probably damaging 1.00
R7132:Cyp2f2 UTSW 7 26,831,993 (GRCm39) missense probably benign 0.00
R7599:Cyp2f2 UTSW 7 26,830,784 (GRCm39) critical splice donor site probably null
R7814:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R7823:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R7824:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R7825:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R8141:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R8142:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R8143:Cyp2f2 UTSW 7 26,828,678 (GRCm39) missense probably benign 0.00
R8351:Cyp2f2 UTSW 7 26,821,294 (GRCm39) missense probably damaging 1.00
R8809:Cyp2f2 UTSW 7 26,831,995 (GRCm39) missense probably damaging 0.99
R9095:Cyp2f2 UTSW 7 26,830,667 (GRCm39) missense possibly damaging 0.83
R9548:Cyp2f2 UTSW 7 26,829,170 (GRCm39) missense probably benign 0.45
R9726:Cyp2f2 UTSW 7 26,821,411 (GRCm39) missense probably damaging 0.99
X0064:Cyp2f2 UTSW 7 26,832,709 (GRCm39) missense probably damaging 1.00
Z1177:Cyp2f2 UTSW 7 26,821,332 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-28