Incidental Mutation 'R4917:Cyp2e1'
ID 378293
Institutional Source Beutler Lab
Gene Symbol Cyp2e1
Ensembl Gene ENSMUSG00000025479
Gene Name cytochrome P450, family 2, subfamily e, polypeptide 1
Synonyms Cyp2e
MMRRC Submission 042519-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4917 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140343732-140354903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140354527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 393 (S393P)
Ref Sequence ENSEMBL: ENSMUSP00000148090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000026553] [ENSMUST00000209253] [ENSMUST00000210235]
AlphaFold Q05421
Predicted Effect possibly damaging
Transcript: ENSMUST00000026552
AA Change: S452P

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: S452P

DomainStartEndE-ValueType
transmembrane domain 2 23 N/A INTRINSIC
Pfam:p450 33 489 1.4e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026553
SMART Domains Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480

DomainStartEndE-ValueType
Pfam:SYCE1 49 200 5.5e-66 PFAM
coiled coil region 237 294 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209253
AA Change: S393P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect unknown
Transcript: ENSMUST00000210235
AA Change: S292P
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (111/114)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,658,996 (GRCm39) V2783I probably benign Het
Ago4 A C 4: 126,400,635 (GRCm39) C693G probably damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arfgef3 T A 10: 18,492,638 (GRCm39) I1258F probably damaging Het
Arhgef40 A G 14: 52,227,556 (GRCm39) E434G probably damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A T 13: 100,191,713 (GRCm39) V1422E probably damaging Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cacna1s T A 1: 136,029,302 (GRCm39) probably null Het
Casp8 T C 1: 58,866,377 (GRCm39) F126S probably damaging Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cds2 A G 2: 132,140,398 (GRCm39) T182A probably damaging Het
Cfap157 C T 2: 32,669,965 (GRCm39) R206H probably benign Het
Col7a1 G A 9: 108,795,532 (GRCm39) G1529E unknown Het
Crybg3 A G 16: 59,350,782 (GRCm39) F2567L probably benign Het
D5Ertd579e A G 5: 36,773,160 (GRCm39) Y412H probably damaging Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Ddx50 A T 10: 62,463,450 (GRCm39) C414* probably null Het
Dip2c T A 13: 9,671,905 (GRCm39) probably null Het
Dmtn G T 14: 70,843,159 (GRCm39) P283Q probably damaging Het
Dspp C A 5: 104,325,789 (GRCm39) D717E unknown Het
Efcab11 T C 12: 99,685,321 (GRCm39) D151G probably damaging Het
Egfem1 T C 3: 29,206,042 (GRCm39) V93A probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Erlec1 A G 11: 30,884,710 (GRCm39) Y448H possibly damaging Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Gm10764 A G 10: 87,126,579 (GRCm39) noncoding transcript Het
Gm5958 C A 14: 100,073,189 (GRCm39) noncoding transcript Het
Gm6788 C T 19: 28,740,664 (GRCm39) noncoding transcript Het
Gsdmd A G 15: 75,736,241 (GRCm39) I123M probably benign Het
H2bc13 A T 13: 21,900,189 (GRCm39) V42E probably damaging Het
Hsf4 A G 8: 105,999,367 (GRCm39) E235G probably benign Het
Ighv1-83 T C 12: 115,927,580 (GRCm39) I57V probably benign Het
Inhca A C 9: 103,129,054 (GRCm39) Y235* probably null Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Kcnj1 T A 9: 32,308,056 (GRCm39) L160Q probably damaging Het
Kcnmb3 A T 3: 32,526,653 (GRCm39) C179* probably null Het
Lrig1 A G 6: 94,586,700 (GRCm39) F659L probably damaging Het
Lrrc3 T C 10: 77,737,253 (GRCm39) D61G probably benign Het
Marchf4 T G 1: 72,467,938 (GRCm39) S365R probably benign Het
Mccc1 A G 3: 36,051,703 (GRCm39) L32S probably benign Het
Mei4 A G 9: 81,772,216 (GRCm39) T10A probably benign Het
Meis1 T C 11: 18,959,222 (GRCm39) probably benign Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mmp11 C T 10: 75,761,419 (GRCm39) A31T probably damaging Het
Mrps28 A G 3: 8,947,614 (GRCm39) probably benign Het
Mthfsl A C 9: 88,597,550 (GRCm39) L67V probably damaging Het
Ncaph2 A G 15: 89,244,574 (GRCm39) I11V probably damaging Het
Ncdn G A 4: 126,643,731 (GRCm39) L364F possibly damaging Het
Nfat5 T A 8: 108,051,284 (GRCm39) D47E probably damaging Het
Or51g2 A T 7: 102,622,614 (GRCm39) I195N possibly damaging Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Or5bw2 C T 7: 6,573,643 (GRCm39) L218F possibly damaging Het
Pcdhb3 A T 18: 37,435,452 (GRCm39) I473F probably damaging Het
Pcdhgb8 A T 18: 37,897,191 (GRCm39) N754Y probably damaging Het
Pgbd5 C A 8: 125,097,305 (GRCm39) K408N probably benign Het
Pnisr A G 4: 21,859,330 (GRCm39) probably benign Het
Poldip3 A T 15: 83,016,776 (GRCm39) probably null Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Psmc3 A G 2: 90,896,317 (GRCm39) probably benign Het
Rab3gap1 T A 1: 127,816,914 (GRCm39) W58R possibly damaging Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rhot1 A G 11: 80,100,027 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,612 (GRCm39) S781P probably damaging Het
Rtraf T C 14: 19,873,784 (GRCm39) K5R probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A G 13: 11,609,872 (GRCm39) V753A probably damaging Het
Ryr3 T C 2: 112,661,530 (GRCm39) H1820R probably damaging Het
Schip1 A T 3: 68,315,818 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Selp A C 1: 163,972,475 (GRCm39) T705P probably damaging Het
Sh3rf3 A T 10: 58,842,925 (GRCm39) D297V probably damaging Het
Slc24a4 T A 12: 102,231,203 (GRCm39) probably null Het
Slc2a9 C A 5: 38,574,603 (GRCm39) L224F probably benign Het
Slc35e2 C A 4: 155,700,693 (GRCm39) P272Q probably damaging Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Syne1 C T 10: 5,007,909 (GRCm39) C7932Y probably damaging Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tchhl1 A G 3: 93,377,623 (GRCm39) D109G possibly damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Tm4sf1 C T 3: 57,200,448 (GRCm39) G85S probably damaging Het
Tmem63a T A 1: 180,794,086 (GRCm39) I541N probably benign Het
Tmpo A G 10: 90,985,411 (GRCm39) V357A probably damaging Het
Unc80 T C 1: 66,685,709 (GRCm39) Y2278H possibly damaging Het
Vmn1r26 A G 6: 57,985,808 (GRCm39) F127S probably damaging Het
Vmn2r8 A T 5: 108,945,264 (GRCm39) M781K probably damaging Het
Vps36 T G 8: 22,708,280 (GRCm39) M348R possibly damaging Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging 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
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
R7065:Cyp2e1 UTSW 7 140,343,906 (GRCm39) missense probably damaging 1.00
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'- TGTTCTGGGACTAAGGGCAAGG -3'
(R):5'- AGGAACTCCATATGCTTGGC -3'

Sequencing Primer
(F):5'- GATGGAGAATCCTGGTTTCAGTG -3'
(R):5'- TACAGATGGTTGTGAGCCACC -3'
Posted On 2016-04-15