Incidental Mutation 'R7132:Cyp2f2'
ID 552747
Institutional Source Beutler Lab
Gene Symbol Cyp2f2
Ensembl Gene ENSMUSG00000052974
Gene Name cytochrome P450, family 2, subfamily f, polypeptide 2
Synonyms Cyp2f
MMRRC Submission 045217-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R7132 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26819380-26833085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26831993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 416 (D416V)
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: D416V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: D416V

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:p450 31 488 3.7e-152 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206552
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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. 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C T 10: 69,825,744 (GRCm39) A1471V Het
Ankrd12 C A 17: 66,290,242 (GRCm39) M1730I probably benign Het
Ap2a2 T C 7: 141,199,478 (GRCm39) Y462H probably benign Het
Ap5b1 T A 19: 5,619,412 (GRCm39) Y277* probably null Het
App T C 16: 84,853,370 (GRCm39) D236G unknown Het
Arid2 A T 15: 96,247,894 (GRCm39) K102I possibly damaging Het
Asl A G 5: 130,043,543 (GRCm39) V211A possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cbx2 A G 11: 118,913,947 (GRCm39) S5G probably benign Het
Ccdc183 A G 2: 25,506,542 (GRCm39) probably null Het
Cd72 T C 4: 43,452,444 (GRCm39) Q183R possibly damaging Het
Cdh26 T A 2: 178,128,555 (GRCm39) D702E possibly damaging Het
Cfap61 A T 2: 145,951,870 (GRCm39) N784I probably damaging Het
Cgrrf1 G A 14: 47,091,321 (GRCm39) V282M probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cobll1 T G 2: 64,964,112 (GRCm39) K170Q probably damaging Het
Copg2 A T 6: 30,792,931 (GRCm39) V468D probably benign Het
Cracr2b C T 7: 141,043,651 (GRCm39) A84V probably benign Het
Dcaf10 T C 4: 45,342,391 (GRCm39) F75S probably benign Het
Eml3 G T 19: 8,918,392 (GRCm39) A829S probably benign Het
Entpd3 A G 9: 120,390,086 (GRCm39) T402A probably benign Het
Fer1l4 A T 2: 155,887,546 (GRCm39) V550E probably damaging Het
Fgb G A 3: 82,954,053 (GRCm39) R62* probably null Het
Fubp1 T A 3: 151,937,661 (GRCm39) probably null Het
Gdf3 A C 6: 122,583,283 (GRCm39) D361E probably damaging Het
Gm6685 A T 11: 28,289,330 (GRCm39) I162N probably damaging Het
Hmx2 A G 7: 131,157,645 (GRCm39) Y253C probably damaging Het
Ints2 G T 11: 86,108,580 (GRCm39) N922K probably benign Het
Ipo7 C T 7: 109,653,254 (GRCm39) L984F probably benign Het
Itgae A T 11: 73,002,184 (GRCm39) Y96F possibly damaging Het
Kalrn A G 16: 34,076,597 (GRCm39) V697A unknown Het
Kctd18 G A 1: 58,006,737 (GRCm39) R38* probably null Het
Kdm5b A G 1: 134,526,844 (GRCm39) D322G probably damaging Het
Ldb3 A G 14: 34,298,992 (GRCm39) Y211H probably benign Het
Limch1 T C 5: 67,111,028 (GRCm39) F85S probably damaging Het
Lrrn4 A T 2: 132,721,613 (GRCm39) L68* probably null Het
Lrwd1 A G 5: 136,152,129 (GRCm39) V616A possibly damaging Het
Nars1 A G 18: 64,640,841 (GRCm39) probably null Het
Nradd T C 9: 110,451,329 (GRCm39) D13G probably benign Het
Oacyl A T 18: 65,831,480 (GRCm39) N39I probably damaging Het
Onecut2 A T 18: 64,473,983 (GRCm39) H178L possibly damaging Het
Or9i14 T A 19: 13,792,786 (GRCm39) Q56L probably benign Het
Pcdhga4 A C 18: 37,820,430 (GRCm39) T660P probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,942,102 (GRCm39) I902F possibly damaging Het
Plod3 T C 5: 137,023,971 (GRCm39) L180S Het
Prrc2c A T 1: 162,508,850 (GRCm39) H2354Q possibly damaging Het
Pth2r A G 1: 65,361,225 (GRCm39) E58G probably benign Het
Rev1 G T 1: 38,110,530 (GRCm39) D573E possibly damaging Het
Sec24a A T 11: 51,605,963 (GRCm39) L696* probably null Het
Serpinb3c A G 1: 107,204,681 (GRCm39) S22P probably damaging Het
St18 A T 1: 6,929,351 (GRCm39) H81L Het
Stard9 A T 2: 120,509,859 (GRCm39) K266* probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Tcp10a C T 17: 7,612,351 (GRCm39) T381I probably benign Het
Tecpr2 T A 12: 110,881,806 (GRCm39) V125D probably damaging Het
Tmc2 T C 2: 130,074,329 (GRCm39) S341P possibly damaging Het
Tmem190 G A 7: 4,787,224 (GRCm39) V143I probably benign Het
Trap1 A G 16: 3,873,693 (GRCm39) Y288H probably benign Het
Trim39 T C 17: 36,571,547 (GRCm39) T404A probably benign Het
Ttn T A 2: 76,576,043 (GRCm39) K24950I probably damaging Het
Ttn G T 2: 76,774,696 (GRCm39) N2161K unknown Het
Unc13b T C 4: 43,215,757 (GRCm39) S19P probably benign Het
Uqcrc1 T A 9: 108,778,536 (GRCm39) I471N probably damaging Het
Wbp11 T C 6: 136,798,540 (GRCm39) T170A probably benign Het
Wnk4 A G 11: 101,152,026 (GRCm39) I177V probably benign Het
Zfp455 C A 13: 67,347,230 (GRCm39) P51T probably damaging Het
Zfp946 T C 17: 22,673,644 (GRCm39) Y133H probably benign Het
Zfp955a A T 17: 33,460,589 (GRCm39) Y514* probably null Het
Zzef1 T C 11: 72,808,697 (GRCm39) probably null 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
R1481:Cyp2f2 UTSW 7 26,821,302 (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
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
(F):5'- TTGCACACAGGCAAACACTTAG -3'
(R):5'- CGGAGTAATTAGAATTCCCGCC -3'

Sequencing Primer
(F):5'- CAGATGTCATCACACTCC -3'
(R):5'- CCCGCTGCAAGGTAGAGTTAAG -3'
Posted On 2019-05-15