Incidental Mutation 'R8809:Cyp2f2'
ID 672271
Institutional Source Beutler Lab
Gene Symbol Cyp2f2
Ensembl Gene ENSMUSG00000052974
Gene Name cytochrome P450, family 2, subfamily f, polypeptide 2
Synonyms Cyp2f
MMRRC Submission 068645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8809 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26819380-26833085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26831995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 417 (N417Y)
Ref Sequence ENSEMBL: ENSMUSP00000003100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003100] [ENSMUST00000206552]
AlphaFold P33267
Predicted Effect probably damaging
Transcript: ENSMUST00000003100
AA Change: N417Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: N417Y

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: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,550,841 (GRCm39) V318I probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Ankdd1a A T 9: 65,415,422 (GRCm39) probably benign Het
Arcn1 T C 9: 44,655,259 (GRCm39) T501A possibly damaging Het
B3gntl1 A T 11: 121,521,690 (GRCm39) F166I possibly damaging Het
Brap T C 5: 121,822,524 (GRCm39) S467P possibly damaging Het
Cenpb A G 2: 131,020,322 (GRCm39) V492A unknown Het
Ces1b C A 8: 93,786,948 (GRCm39) G477V probably damaging Het
Ces1b C T 8: 93,786,949 (GRCm39) G477R probably damaging Het
Cfap65 T C 1: 74,942,382 (GRCm39) K1724R probably benign Het
Chrd A T 16: 20,553,270 (GRCm39) Q182L probably benign Het
Chrnb2 T C 3: 89,664,457 (GRCm39) T486A probably benign Het
Col25a1 A T 3: 130,354,466 (GRCm39) probably null Het
Col4a1 A G 8: 11,295,916 (GRCm39) Y101H unknown Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Ctnnal1 T A 4: 56,835,374 (GRCm39) N301I possibly damaging Het
Dnah6 T A 6: 73,009,546 (GRCm39) E3800D possibly damaging Het
Dync2i1 A G 12: 116,193,234 (GRCm39) S573P probably damaging Het
Ehmt2 C A 17: 35,127,489 (GRCm39) T906K probably damaging Het
Fbxo15 A G 18: 84,978,200 (GRCm39) H183R possibly damaging Het
Fgl1 T A 8: 41,650,368 (GRCm39) K194* probably null Het
Fxr1 G A 3: 34,108,430 (GRCm39) V314I possibly damaging Het
Hrnr A G 3: 93,239,443 (GRCm39) Q3227R unknown Het
Ier5 G A 1: 154,974,716 (GRCm39) A154V probably benign Het
Igkc T G 6: 70,703,502 (GRCm39) L28V Het
Kcnh1 G A 1: 191,903,722 (GRCm39) G54D probably damaging Het
Kcnn1 C T 8: 71,305,297 (GRCm39) probably null Het
Kifbp C T 10: 62,395,491 (GRCm39) D384N possibly damaging Het
Klra2 T A 6: 131,197,198 (GRCm39) N234I possibly damaging Het
Krtap4-9 T C 11: 99,676,454 (GRCm39) I125T unknown Het
Lrig2 T C 3: 104,368,993 (GRCm39) T897A probably benign Het
Lyve1 G T 7: 110,452,999 (GRCm39) T199K probably damaging Het
Myorg T C 4: 41,498,812 (GRCm39) T273A probably benign Het
Napa A G 7: 15,846,551 (GRCm39) D113G possibly damaging Het
Neurog1 GGTG GGTGTG 13: 56,399,098 (GRCm39) probably null Het
Nf1 T A 11: 79,437,964 (GRCm39) H91Q probably damaging Het
Or4c11c T C 2: 88,662,256 (GRCm39) M265T probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or52e3 A T 7: 102,869,446 (GRCm39) N174Y probably benign Het
Or5k16 T A 16: 58,736,248 (GRCm39) Y252F probably damaging Het
Or7g16 A G 9: 18,726,919 (GRCm39) S224P probably damaging Het
Pccb A T 9: 100,867,220 (GRCm39) Y455* probably null Het
Pdk2 A T 11: 94,923,339 (GRCm39) I95N probably damaging Het
Pik3c2g G A 6: 139,714,436 (GRCm39) R196H Het
Pkd1l2 A G 8: 117,726,660 (GRCm39) L2282P probably damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prdm1 A T 10: 44,315,749 (GRCm39) S796T probably benign Het
Rb1 A G 14: 73,503,000 (GRCm39) F424L probably damaging Het
Retreg3 A G 11: 100,992,852 (GRCm39) L190P probably damaging Het
Rffl A G 11: 82,700,864 (GRCm39) Y321H probably damaging Het
Rlbp1 A G 7: 79,025,704 (GRCm39) Y246H probably damaging Het
Rock2 T A 12: 17,015,655 (GRCm39) probably benign Het
Slc17a3 C A 13: 24,039,575 (GRCm39) C244* probably null Het
Snapc1 T C 12: 74,021,812 (GRCm39) S304P probably benign Het
Sp9 T C 2: 73,104,019 (GRCm39) L191P probably damaging Het
Spag17 A T 3: 99,889,738 (GRCm39) E202D probably benign Het
Ss18 A G 18: 14,760,344 (GRCm39) *419R probably null Het
Tacc2 A G 7: 130,276,421 (GRCm39) E1824G possibly damaging Het
Tacc3 T A 5: 33,824,029 (GRCm39) probably benign Het
Tfap2a A T 13: 40,870,829 (GRCm39) L353Q probably damaging Het
Ugt3a1 A G 15: 9,367,345 (GRCm39) I363V possibly damaging Het
Vmn1r158 A G 7: 22,489,775 (GRCm39) C145R probably damaging Het
Vmn1r23 A T 6: 57,903,352 (GRCm39) I142K probably damaging Het
Vmn2r15 A T 5: 109,434,874 (GRCm39) I610N probably benign Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zbtb7c T C 18: 76,270,190 (GRCm39) Y93H probably damaging Het
Zfp62 A G 11: 49,107,238 (GRCm39) N443S probably damaging 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
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
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'- ACAGAAACTCGAGCTTGGGG -3'
(R):5'- CTTAAGCGGCTTTCACCTTGG -3'

Sequencing Primer
(F):5'- TGTCTCAGCAGTTAAGAGCACGTC -3'
(R):5'- GCTTTCACCTTGGTGTTAAAGGAACC -3'
Posted On 2021-04-30