|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 2, subfamily e, polypeptide 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1396 (G1)|
|Chromosomal Location||140763739-140774987 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 140773079 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 343 (D343G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026552 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000026553] [ENSMUST00000209253] [ENSMUST00000210235]|
|Predicted Effect||probably damaging
AA Change: D343G
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: D343G
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: D284G
PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: D183G
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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||
|Other mutations in Cyp2e1||
(F):5'- AATGGAACTATTGCAGGATCGTGGG -3'
(R):5'- ACCTCGGCGATAAGCTAACAGGAC -3'
(F):5'- GCTATACTGGTGGGTAAATGAATATG -3'
(R):5'- CGATAAGCTAACAGGACAATGC -3'