Incidental Mutation 'R4784:Cyp2e1'
ID 366842
Institutional Source Beutler Lab
Gene Symbol Cyp2e1
Ensembl Gene ENSMUSG00000025479
Gene Name cytochrome P450, family 2, subfamily e, polypeptide 1
Synonyms Cyp2e
MMRRC Submission 041994-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4784 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140343732-140354903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140343821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 20 (V20I)
Ref Sequence ENSEMBL: ENSMUSP00000147845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000209253] [ENSMUST00000210235]
AlphaFold Q05421
Predicted Effect probably benign
Transcript: ENSMUST00000026552
AA Change: V20I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: V20I

DomainStartEndE-ValueType
transmembrane domain 2 23 N/A INTRINSIC
Pfam:p450 33 489 1.4e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209253
AA Change: V20I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210235
AA Change: V20I

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210403
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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 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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a T A 14: 66,875,273 (GRCm39) S83T probably damaging Het
Aff1 T A 5: 103,994,905 (GRCm39) Y1034* probably null Het
Ago3 A T 4: 126,262,296 (GRCm39) M418K probably benign Het
Alpk1 G T 3: 127,481,241 (GRCm39) N175K possibly damaging Het
Als2 A G 1: 59,254,472 (GRCm39) V295A probably benign Het
Arhgap32 A G 9: 32,040,949 (GRCm39) D67G probably damaging Het
Arhgap32 T C 9: 32,172,076 (GRCm39) C1619R probably damaging Het
Asns T G 6: 7,678,029 (GRCm39) K350Q probably benign Het
Atp8b5 A T 4: 43,356,980 (GRCm39) D576V probably damaging Het
Atrnl1 A G 19: 57,617,590 (GRCm39) I122V probably damaging Het
Baz1b T G 5: 135,246,267 (GRCm39) L572R possibly damaging Het
C4b T C 17: 34,952,380 (GRCm39) T1220A probably benign Het
Carmil3 T C 14: 55,738,778 (GRCm39) probably null Het
Ccndbp1 A T 2: 120,839,003 (GRCm39) T5S probably benign Het
Chaf1b T C 16: 93,681,430 (GRCm39) V16A probably damaging Het
Chd8 C A 14: 52,442,825 (GRCm39) C575F probably damaging Het
Chrna10 G A 7: 101,762,426 (GRCm39) P255S possibly damaging Het
Clip1 T C 5: 123,717,356 (GRCm39) D1387G probably damaging Het
Col12a1 C A 9: 79,585,776 (GRCm39) V1228F possibly damaging Het
Cxcr5 T C 9: 44,424,638 (GRCm39) T340A probably benign Het
Dchs1 A G 7: 105,415,133 (GRCm39) Y684H probably damaging Het
Dcun1d3 T C 7: 119,456,887 (GRCm39) E275G probably damaging Het
Dgcr8 G A 16: 18,076,174 (GRCm39) R4* probably null Het
Dglucy A T 12: 100,804,923 (GRCm39) D168V probably damaging Het
Dnah1 T A 14: 30,985,436 (GRCm39) K3818N probably damaging Het
Dnajc17 T C 2: 119,009,909 (GRCm39) D239G probably benign Het
Dok2 C T 14: 71,015,314 (GRCm39) P347L probably benign Het
Elavl2 T C 4: 91,142,379 (GRCm39) R265G probably null Het
Elf1 T A 14: 79,818,183 (GRCm39) N567K probably benign Het
Epha8 A T 4: 136,660,633 (GRCm39) I695N probably damaging Het
Fam178b C A 1: 36,671,496 (GRCm39) probably null Het
Fam76a A T 4: 132,629,428 (GRCm39) probably null Het
Fam76a A G 4: 132,643,501 (GRCm39) Y78H probably damaging Het
Fbn1 A T 2: 125,166,839 (GRCm39) C2026S probably damaging Het
Fbxo4 T C 15: 3,998,523 (GRCm39) T312A probably benign Het
Fscn2 T C 11: 120,258,813 (GRCm39) F453L possibly damaging Het
Gabrb2 T C 11: 42,488,469 (GRCm39) C312R probably damaging Het
Gba2 A C 4: 43,568,315 (GRCm39) L684R probably damaging Het
Golga2 T A 2: 32,187,168 (GRCm39) N89K probably damaging Het
Gpx6 C T 13: 21,496,434 (GRCm39) Q3* probably null Het
Grin1 T A 2: 25,182,393 (GRCm39) H956L possibly damaging Het
H2-Q7 T G 17: 35,658,914 (GRCm39) C122G probably damaging Het
Hcar2 C G 5: 124,002,513 (GRCm39) G330A probably benign Het
Hes3 A G 4: 152,372,289 (GRCm39) S37P probably damaging Het
Hs3st3b1 T C 11: 63,780,086 (GRCm39) H347R probably benign Het
Il1rl1 A G 1: 40,489,348 (GRCm39) R367G probably damaging Het
Kcnc1 G T 7: 46,086,711 (GRCm39) S570I probably benign Het
Kctd3 T C 1: 188,706,665 (GRCm39) I523M probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kntc1 T G 5: 123,954,825 (GRCm39) M2081R possibly damaging Het
Krt87 A G 15: 101,385,837 (GRCm39) S253P probably damaging Het
Ktn1 T A 14: 47,930,953 (GRCm39) probably null Het
Lair1 T A 7: 4,012,731 (GRCm39) M251L probably benign Het
Lama3 A T 18: 12,582,601 (GRCm39) H631L probably benign Het
Lamc1 T C 1: 153,107,486 (GRCm39) N1231S probably damaging Het
Lin54 A G 5: 100,607,597 (GRCm39) I250T probably damaging Het
Lrit1 C T 14: 36,784,193 (GRCm39) T507M possibly damaging Het
Lrp11 A G 10: 7,479,965 (GRCm39) H345R possibly damaging Het
Lrp6 A C 6: 134,456,502 (GRCm39) S921A probably benign Het
Lrrc27 A G 7: 138,822,614 (GRCm39) T502A probably benign Het
Marf1 A C 16: 13,970,321 (GRCm39) S133A probably benign Het
Mga C T 2: 119,733,538 (GRCm39) P129S probably damaging Het
Mgat4e T C 1: 134,469,063 (GRCm39) N327S probably damaging Het
Mlh1 A G 9: 111,068,866 (GRCm39) Y499H probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Myo1h A G 5: 114,498,660 (GRCm39) I919V possibly damaging Het
Naalad2 T C 9: 18,262,214 (GRCm39) R442G probably damaging Het
Nat8f4 T C 6: 85,878,481 (GRCm39) H14R probably benign Het
Nav1 A G 1: 135,386,477 (GRCm39) S1184P probably damaging Het
Nckap1 T A 2: 80,337,278 (GRCm39) N986I probably benign Het
Ndufaf2 C G 13: 108,189,314 (GRCm39) A145P probably damaging Het
Nop9 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 14: 55,983,859 (GRCm39) probably benign Het
Nphp4 G A 4: 152,639,003 (GRCm39) R878K probably benign Het
Nutm1 G A 2: 112,079,281 (GRCm39) A878V probably benign Het
Or4f56 A T 2: 111,703,395 (GRCm39) D268E possibly damaging Het
Or52e8b A C 7: 104,673,737 (GRCm39) I150S probably damaging Het
Or5k1b G T 16: 58,580,911 (GRCm39) F209L probably damaging Het
Orc6 T A 8: 86,029,579 (GRCm39) I41K probably damaging Het
Pikfyve A G 1: 65,307,005 (GRCm39) T1798A probably benign Het
Ppp1r14a A T 7: 28,991,486 (GRCm39) E98V possibly damaging Het
Prpf8 T A 11: 75,383,331 (GRCm39) D521E probably damaging Het
Pudp A G 18: 50,701,136 (GRCm39) V199A probably damaging Het
Rab3c T C 13: 110,198,434 (GRCm39) E198G probably benign Het
Ramac T A 7: 81,418,163 (GRCm39) W73R probably damaging Het
Rbl2 A G 8: 91,812,196 (GRCm39) Y255C probably damaging Het
Rbm12 T C 2: 155,938,484 (GRCm39) D596G possibly damaging Het
Sipa1l3 A G 7: 29,077,066 (GRCm39) V902A probably damaging Het
Slc37a3 T G 6: 39,314,157 (GRCm39) Q485P probably benign Het
Slc44a3 T C 3: 121,320,723 (GRCm39) T93A possibly damaging Het
Slc66a1 G T 4: 139,027,312 (GRCm39) H343Q probably benign Het
Sun3 G A 11: 8,988,266 (GRCm39) L19F probably benign Het
Tas2r125 A G 6: 132,886,866 (GRCm39) I85V probably benign Het
Tenm4 A C 7: 96,423,253 (GRCm39) K683Q probably damaging Het
Tmprss11d C T 5: 86,454,140 (GRCm39) V222M probably damaging Het
Tnip1 A C 11: 54,806,365 (GRCm39) S570A possibly damaging Het
Top1mt G A 15: 75,529,552 (GRCm39) P554S probably damaging Het
Top1mt A G 15: 75,547,880 (GRCm39) F69L possibly damaging Het
Ttc7 A G 17: 87,648,325 (GRCm39) K508R probably benign Het
Ttll4 A T 1: 74,718,166 (GRCm39) T6S possibly damaging Het
Xpo5 T C 17: 46,533,643 (GRCm39) Y500H possibly damaging Het
Xpot C T 10: 121,450,968 (GRCm39) probably null Het
Zbbx T C 3: 74,992,348 (GRCm39) I268V probably benign Het
Zbtb40 G A 4: 136,734,408 (GRCm39) P360S probably damaging Het
Zfp324 T C 7: 12,705,233 (GRCm39) L474P probably damaging Het
Zfp398 A G 6: 47,817,186 (GRCm39) T9A probably benign Het
Zfp692 A C 11: 58,200,997 (GRCm39) S293R probably null 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
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
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'- ACCAGCACTTTAGGCCAAG -3'
(R):5'- TCATTGGATAACAGCTGGCACTG -3'

Sequencing Primer
(F):5'- CACTTTAGGCCAAGGGAGATG -3'
(R):5'- GCTGGCACTGAGTTTAATATATACAC -3'
Posted On 2015-12-29