Incidental Mutation 'R7065:Cyp2e1'
ID 548518
Institutional Source Beutler Lab
Gene Symbol Cyp2e1
Ensembl Gene ENSMUSG00000025479
Gene Name cytochrome P450, family 2, subfamily e, polypeptide 1
Synonyms Cyp2e
MMRRC Submission 045161-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7065 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140343732-140354903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140343906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 48 (L48Q)
Ref Sequence ENSEMBL: ENSMUSP00000147845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000209253] [ENSMUST00000210235]
AlphaFold Q05421
Predicted Effect probably damaging
Transcript: ENSMUST00000026552
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: L48Q

DomainStartEndE-ValueType
transmembrane domain 2 23 N/A INTRINSIC
Pfam:p450 33 489 1.4e-147 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209253
AA Change: L48Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000210235
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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 induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered responses to xenobiotics including decreased urethane-induced tumors and allylnitrile- or acetamenophen-associated mortality but increased allylnitrile-induced vestibular function loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,074,233 (GRCm39) S1150Y probably damaging Het
Abca13 T A 11: 9,242,595 (GRCm39) V1486E probably benign Het
Abca17 T A 17: 24,546,725 (GRCm39) Y292F probably damaging Het
Adam3 A G 8: 25,201,691 (GRCm39) probably null Het
Ankmy2 G A 12: 36,237,707 (GRCm39) E269K probably damaging Het
Cdan1 A G 2: 120,549,402 (GRCm39) S1201P probably benign Het
Cep57 T C 9: 13,729,677 (GRCm39) Y122C probably damaging Het
Cfh T A 1: 140,014,140 (GRCm39) Y1210F probably damaging Het
Cflar T G 1: 58,770,368 (GRCm39) L154V probably damaging Het
Chmp4b A G 2: 154,533,162 (GRCm39) D134G probably damaging Het
Clec14a A G 12: 58,315,580 (GRCm39) F14S possibly damaging Het
Ctnna1 A T 18: 35,285,669 (GRCm39) H5L probably benign Het
Dnah6 T G 6: 73,064,545 (GRCm39) Q2627P possibly damaging Het
Ehmt1 T C 2: 24,730,709 (GRCm39) D569G probably damaging Het
Frmd4a G A 2: 4,570,923 (GRCm39) Het
Fryl T C 5: 73,248,099 (GRCm39) D1006G probably damaging Het
Gclm A G 3: 122,056,320 (GRCm39) N137D probably benign Het
Gk5 A G 9: 96,061,109 (GRCm39) Y531C probably damaging Het
Gpm6a C A 8: 55,490,493 (GRCm39) N56K probably benign Het
Grik4 A C 9: 42,455,127 (GRCm39) V656G probably damaging Het
Grip2 C A 6: 91,760,550 (GRCm39) probably null Het
Gucy2c T C 6: 136,697,764 (GRCm39) K636E probably damaging Het
Ifi44l A G 3: 151,465,429 (GRCm39) I107T Het
Kif1b T C 4: 149,286,982 (GRCm39) T1237A possibly damaging Het
Klk1b11 A G 7: 43,648,386 (GRCm39) D131G probably benign Het
Lipe A G 7: 25,084,603 (GRCm39) probably null Het
Lrp4 A G 2: 91,341,925 (GRCm39) D1846G probably damaging Het
Madd A T 2: 90,985,402 (GRCm39) M1273K probably benign Het
Matn3 T A 12: 9,002,472 (GRCm39) M228K probably damaging Het
Mterf4 T A 1: 93,232,617 (GRCm39) H78L probably benign Het
Ncoa4 T A 14: 31,894,857 (GRCm39) L128* probably null Het
Nedd4l A G 18: 65,329,040 (GRCm39) N627S probably benign Het
Niban1 A G 1: 151,575,858 (GRCm39) probably null Het
Nphp3 A G 9: 103,919,189 (GRCm39) Y1279C probably damaging Het
Nrp1 C A 8: 129,187,193 (GRCm39) T413N probably benign Het
Opn4 C A 14: 34,317,834 (GRCm39) A267S probably benign Het
Or4c11c A T 2: 88,661,730 (GRCm39) I90F probably damaging Het
Or5ak24 A G 2: 85,260,523 (GRCm39) Y217H probably damaging Het
Or5al6 A C 2: 85,976,345 (GRCm39) H244Q probably damaging Het
Or5p78 G A 7: 108,212,266 (GRCm39) V251I probably damaging Het
Pax3 T C 1: 78,170,648 (GRCm39) probably null Het
Pcdha12 A G 18: 37,154,679 (GRCm39) E466G probably damaging Het
Pdzk1 A G 3: 96,775,748 (GRCm39) E372G probably benign Het
Pigs T A 11: 78,227,565 (GRCm39) V243D possibly damaging Het
Pla2g5 C A 4: 138,527,915 (GRCm39) C117F probably damaging Het
Ppt2 A G 17: 34,841,829 (GRCm39) S236P probably damaging Het
Raver1 T C 9: 21,001,590 (GRCm39) D81G probably benign Het
Rpgrip1 T C 14: 52,378,650 (GRCm39) L525P possibly damaging Het
Ryr1 T C 7: 28,803,068 (GRCm39) E662G probably damaging Het
Scaf8 G A 17: 3,209,486 (GRCm39) V66M probably damaging Het
Scn3a A C 2: 65,295,199 (GRCm39) L1508R probably benign Het
Semp2l2b T C 10: 21,943,197 (GRCm39) D261G probably benign Het
Slfn8 T C 11: 82,907,794 (GRCm39) R250G probably benign Het
Speer4d A C 5: 15,825,421 (GRCm39) T49P probably damaging Het
Spice1 T A 16: 44,175,898 (GRCm39) D32E probably damaging Het
Stt3b A G 9: 115,095,224 (GRCm39) L269P probably damaging Het
Ttn A G 2: 76,628,456 (GRCm39) I14568T possibly damaging Het
U2surp T C 9: 95,367,712 (GRCm39) T413A probably benign Het
Ubr3 A G 2: 69,784,049 (GRCm39) E755G probably damaging Het
Unc5a A T 13: 55,138,896 (GRCm39) S92C probably damaging Het
Zfat T C 15: 68,052,969 (GRCm39) Y275C probably damaging Het
Zfp874a A T 13: 67,590,401 (GRCm39) S428T probably damaging Het
Zfy1 A G Y: 725,428 (GRCm39) V779A probably benign Het
Other mutations in Cyp2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Cyp2e1 APN 7 140,349,066 (GRCm39) missense probably benign 0.17
IGL01755:Cyp2e1 APN 7 140,354,469 (GRCm39) critical splice acceptor site probably null
IGL01884:Cyp2e1 APN 7 140,353,663 (GRCm39) missense probably benign 0.16
IGL01950:Cyp2e1 APN 7 140,344,874 (GRCm39) critical splice donor site probably null
IGL01964:Cyp2e1 APN 7 140,343,779 (GRCm39) missense probably damaging 1.00
IGL02430:Cyp2e1 APN 7 140,350,139 (GRCm39) missense probably damaging 1.00
IGL02505:Cyp2e1 APN 7 140,349,069 (GRCm39) missense probably damaging 1.00
IGL02596:Cyp2e1 APN 7 140,350,031 (GRCm39) missense probably damaging 0.99
IGL02725:Cyp2e1 APN 7 140,343,828 (GRCm39) missense probably null 1.00
IGL02887:Cyp2e1 APN 7 140,343,824 (GRCm39) missense probably damaging 1.00
IGL03114:Cyp2e1 APN 7 140,353,042 (GRCm39) missense possibly damaging 0.95
IGL03146:Cyp2e1 APN 7 140,350,134 (GRCm39) missense probably benign 0.00
IGL03340:Cyp2e1 APN 7 140,344,767 (GRCm39) missense probably damaging 1.00
R1396:Cyp2e1 UTSW 7 140,352,992 (GRCm39) missense probably damaging 0.98
R2111:Cyp2e1 UTSW 7 140,353,547 (GRCm39) missense probably damaging 1.00
R2230:Cyp2e1 UTSW 7 140,344,827 (GRCm39) missense probably damaging 1.00
R2231:Cyp2e1 UTSW 7 140,344,827 (GRCm39) missense probably damaging 1.00
R2383:Cyp2e1 UTSW 7 140,349,981 (GRCm39) missense probably benign 0.06
R3778:Cyp2e1 UTSW 7 140,343,822 (GRCm39) missense possibly damaging 0.58
R4082:Cyp2e1 UTSW 7 140,350,991 (GRCm39) missense possibly damaging 0.67
R4707:Cyp2e1 UTSW 7 140,343,821 (GRCm39) missense possibly damaging 0.58
R4751:Cyp2e1 UTSW 7 140,354,629 (GRCm39) nonsense probably null
R4784:Cyp2e1 UTSW 7 140,343,821 (GRCm39) missense possibly damaging 0.58
R4792:Cyp2e1 UTSW 7 140,353,588 (GRCm39) missense probably benign
R4917:Cyp2e1 UTSW 7 140,354,527 (GRCm39) missense possibly damaging 0.94
R4934:Cyp2e1 UTSW 7 140,350,030 (GRCm39) missense probably damaging 1.00
R5092:Cyp2e1 UTSW 7 140,354,648 (GRCm39) missense probably damaging 1.00
R5388:Cyp2e1 UTSW 7 140,343,906 (GRCm39) missense probably damaging 1.00
R5423:Cyp2e1 UTSW 7 140,350,031 (GRCm39) missense probably benign 0.01
R6740:Cyp2e1 UTSW 7 140,343,693 (GRCm39) unclassified probably benign
R7154:Cyp2e1 UTSW 7 140,350,050 (GRCm39) missense probably damaging 1.00
R8054:Cyp2e1 UTSW 7 140,350,871 (GRCm39) missense possibly damaging 0.80
R9130:Cyp2e1 UTSW 7 140,353,022 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAAATTTAGAGTGGAGCCCCATC -3'
(R):5'- TCACTTCAAATGTACAGGGCC -3'

Sequencing Primer
(F):5'- CCCCATCGGCACCATGG -3'
(R):5'- CTTCAAATGTACAGGGCCTCTGAG -3'
Posted On 2019-05-13