Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Cyp2e1'

271901

Institutional Source

Beutler Lab

Gene Symbol

Cyp2e1

Ensembl Gene

ENSMUSG00000025479

Gene Name

cytochrome P450, family 2, subfamily e, polypeptide 1

Synonyms

Cyp2e

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140343732-140354903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140343822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 20 (V20A)

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: V20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: V20A

Domain	Start	End	E-Value	Type
transmembrane domain	2	23	N/A	INTRINSIC
Pfam:p450	33	489	1.4e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209253
AA Change: V20A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210235
AA Change: V20A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210403

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	probably benign	Het

Other mutations in Cyp2e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCATTGGATAACAGCTGGCAC -3'

Sequencing Primer
(F):5'- CACTTTAGGCCAAGGGAGATG -3'
(R):5'- GCTGGCACTGAGTTTAATATATACAC -3'

Posted On

2015-03-25