Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Cyp2e1'

619260

Institutional Source

Beutler Lab

Gene Symbol

Cyp2e1

Ensembl Gene

ENSMUSG00000025479

Gene Name

cytochrome P450, family 2, subfamily e, polypeptide 1

Synonyms

Cyp2e

MMRRC Submission

067491-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140343732-140354903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140350871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 281 (E281G)

Ref Sequence

ENSEMBL: ENSMUSP00000026552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000209253] [ENSMUST00000210235]

AlphaFold

Q05421

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026552
AA Change: E281G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: E281G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209253
AA Change: E222G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000210235

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,874,272 (GRCm39)	N399S	probably benign	Het
Akap9	T	C	5: 4,088,707 (GRCm39)		probably null	Het
Ankrd17	A	G	5: 90,438,914 (GRCm39)	I483T	probably benign	Het
Arl13b	T	C	16: 62,626,960 (GRCm39)	D247G	probably benign	Het
Brca2	A	G	5: 150,459,969 (GRCm39)	I415V	probably benign	Het
Brpf3	C	A	17: 29,055,571 (GRCm39)	S1173R	probably damaging	Het
Cby2	A	G	14: 75,821,339 (GRCm39)	Y129H	probably benign	Het
Ccar1	A	G	10: 62,583,215 (GRCm39)	L966P	unknown	Het
Cfap61	A	G	2: 145,815,438 (GRCm39)	N249S	probably damaging	Het
Clip4	T	A	17: 72,141,268 (GRCm39)	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Cyp2c23	T	G	19: 43,995,555 (GRCm39)	E404A	probably damaging	Het
Cyp2r1	T	A	7: 114,151,319 (GRCm39)		probably null	Het
D430041D05Rik	T	A	2: 103,985,390 (GRCm39)	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,282,498 (GRCm39)	W236R	probably damaging	Het
Dcp2	T	G	18: 44,538,774 (GRCm39)	N251K	probably benign	Het
Disp1	A	T	1: 182,869,812 (GRCm39)	Y869*	probably null	Het
Dnajc8	T	A	4: 132,272,068 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,621,226 (GRCm39)	N822D	probably benign	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Eml3	A	T	19: 8,916,414 (GRCm39)	T670S	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,187,938 (GRCm39)	D1530E	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hsd3b3	A	T	3: 98,649,331 (GRCm39)	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,097,837 (GRCm39)	R791G	possibly damaging	Het
Itprid1	A	T	6: 55,953,424 (GRCm39)	K913N	probably damaging	Het
Jade2	T	C	11: 51,709,441 (GRCm39)	R523G	probably benign	Het
Kmt2d	A	T	15: 98,741,806 (GRCm39)	D4451E	unknown	Het
Lax1	T	C	1: 133,611,345 (GRCm39)	T76A	probably benign	Het
Map4k1	A	G	7: 28,689,181 (GRCm39)		probably benign	Het
Mcu	G	A	10: 59,290,817 (GRCm39)	T121M	probably damaging	Het
Mepce	T	A	5: 137,783,004 (GRCm39)	K441*	probably null	Het
Mettl21e	C	A	1: 44,245,815 (GRCm39)	V144F	probably damaging	Het
Muc6	T	A	7: 141,231,748 (GRCm39)	S1049C	probably damaging	Het
Myh14	C	T	7: 44,274,551 (GRCm39)	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,464,329 (GRCm39)	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,844,754 (GRCm39)	S203G	probably benign	Het
Npas2	A	G	1: 39,326,652 (GRCm39)	T46A	possibly damaging	Het
Nup133	T	C	8: 124,675,956 (GRCm39)		probably benign	Het
Oplah	C	T	15: 76,190,457 (GRCm39)	R102H	probably benign	Het
Or1x6	T	A	11: 50,939,090 (GRCm39)	I52N	probably benign	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or5g29	A	T	2: 85,421,184 (GRCm39)	Q100L	probably damaging	Het
Or6d13	A	G	6: 116,517,960 (GRCm39)	H182R	probably damaging	Het
Or8g20	C	A	9: 39,396,033 (GRCm39)	C172F	probably damaging	Het
Osgep	C	T	14: 51,162,128 (GRCm39)		probably benign	Het
Pam	A	T	1: 97,768,114 (GRCm39)	D705E	probably damaging	Het
Pkd1l3	C	G	8: 110,373,008 (GRCm39)	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,064,741 (GRCm39)	F407S	probably damaging	Het
Pygl	A	G	12: 70,274,113 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,084,720 (GRCm39)	N37S	probably damaging	Het
Sema6a	T	A	18: 47,424,972 (GRCm39)	D213V	probably damaging	Het
Skint11	A	T	4: 114,101,806 (GRCm39)	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,839,426 (GRCm39)	H240L	probably benign	Het
Slc12a2	C	T	18: 58,054,944 (GRCm39)	Q862*	probably null	Het
Smox	A	G	2: 131,364,100 (GRCm39)	S468G	probably benign	Het
Spc25	A	G	2: 69,035,257 (GRCm39)	S50P	probably damaging	Het
Srrm1	A	T	4: 135,052,326 (GRCm39)	S683T	unknown	Het
Syne1	T	C	10: 5,220,970 (GRCm39)	E3103G	probably benign	Het
Tenm4	C	A	7: 96,378,553 (GRCm39)		probably benign	Het
Tent4b	T	A	8: 88,974,186 (GRCm39)	I294N	probably damaging	Het
Tmem123	T	C	9: 7,791,064 (GRCm39)	S122P	possibly damaging	Het
Trav18	A	T	14: 54,068,572 (GRCm39)	K4I	probably benign	Het
Triml1	T	C	8: 43,583,420 (GRCm39)	S394G	probably damaging	Het
Ubr4	A	T	4: 139,195,413 (GRCm39)	S1212C	unknown	Het
Usp34	G	A	11: 23,311,295 (GRCm39)	R442Q		Het
Usp43	G	A	11: 67,782,284 (GRCm39)	P378L	probably damaging	Het
Vmn1r212	A	G	13: 23,067,935 (GRCm39)	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,195,910 (GRCm39)	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,998 (GRCm39)	P347S	probably damaging	Het
Zfp106	A	T	2: 120,355,000 (GRCm39)	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,553,265 (GRCm39)	S13P	probably benign	Het
Zfp608	C	A	18: 55,032,618 (GRCm39)	A441S	probably benign	Het
Zup1	T	C	10: 33,816,248 (GRCm39)	D232G	probably damaging	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
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
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
R9130:Cyp2e1	UTSW	7	140,353,022 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAGAAACCCTTTCCTATGCTTTGC -3'
(R):5'- ACAACTGAGGCCTGAATTGC -3'

Sequencing Primer
(F):5'- CCTATTTCCCGGAAGCATCGG -3'
(R):5'- ATCAGGAGCCCATATCTC -3'

Posted On

2020-01-23