Mutagenetix > Incidental Mutation

Incidental Mutation 'R6193:Ephx2'

502747

Institutional Source

Beutler Lab

Gene Symbol

Ephx2

Ensembl Gene

ENSMUSG00000022040

Gene Name

epoxide hydrolase 2, cytoplasmic

Synonyms

Eph2, sEH, sEP

MMRRC Submission

044333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66321823-66361949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66326961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 411 (D411E)

Ref Sequence

ENSEMBL: ENSMUSP00000069209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070515] [ENSMUST00000224698] [ENSMUST00000225309]

AlphaFold

P34914

PDB Structure

CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE. [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CPU INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CIU INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CDU INHIBITOR [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000070515
AA Change: D411E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: D411E

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	3	197	1.2e-8	PFAM
Pfam:HAD_2	6	203	2.5e-17	PFAM
Pfam:Hydrolase_4	256	529	6.6e-11	PFAM
Pfam:Abhydrolase_1	257	530	7.2e-38	PFAM
Pfam:Abhydrolase_5	258	524	3.5e-14	PFAM
Pfam:Abhydrolase_6	259	536	2.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224698
AA Change: D393E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000225309
AA Change: D345E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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 epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Males homozygous for a targeted null mutation display a significant reduction in blood pressure both in the absence and presence of dietary salt loading. Both sexes exhibit altered arachidonic acid metabolism and reduced renal formation of epoxyeicosatrienoic and dihydroxyeicosatrienoic acids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,792,629 (GRCm39)	I106T	probably benign	Het
Aagab	A	C	9: 63,524,795 (GRCm39)	N35H	possibly damaging	Het
Abcf1	A	C	17: 36,274,464 (GRCm39)	N161K	possibly damaging	Het
Adam11	T	A	11: 102,662,087 (GRCm39)	H140Q	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,247,213 (GRCm39)	D99V	possibly damaging	Het
Arhgef28	A	G	13: 98,121,888 (GRCm39)	S559P	probably damaging	Het
Capn11	A	G	17: 45,964,430 (GRCm39)		probably null	Het
Ccdc157	T	C	11: 4,101,912 (GRCm39)	H3R	probably damaging	Het
Cd101	A	G	3: 100,927,778 (GRCm39)	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,464,993 (GRCm39)	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,570,850 (GRCm39)	I381F	probably benign	Het
Cntn3	T	A	6: 102,185,092 (GRCm39)	I675F	probably benign	Het
Cplx2	C	T	13: 54,527,406 (GRCm39)	P97S	probably damaging	Het
Crtac1	T	A	19: 42,312,236 (GRCm39)	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,776,231 (GRCm39)	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,014 (GRCm39)		noncoding transcript	Het
Cyp2d9	A	G	15: 82,336,728 (GRCm39)	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,083,440 (GRCm39)	R503S	probably damaging	Het
Dclk1	A	T	3: 55,424,292 (GRCm39)		probably null	Het
Dgkq	A	T	5: 108,803,366 (GRCm39)	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679 (GRCm39)	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,231,081 (GRCm39)		probably benign	Het
Fer1l5	A	T	1: 36,448,517 (GRCm39)	N1092Y	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fzd4	A	T	7: 89,057,197 (GRCm39)	K415*	probably null	Het
Gfi1	A	T	5: 107,869,397 (GRCm39)	Y278N	probably benign	Het
Gm11565	T	C	11: 99,806,070 (GRCm39)	M154T	probably benign	Het
Gm7247	A	G	14: 51,759,299 (GRCm39)	I93V	possibly damaging	Het
Golm1	T	G	13: 59,792,972 (GRCm39)	I178L	probably benign	Het
Grip1	A	T	10: 119,874,219 (GRCm39)	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,456,254 (GRCm39)		probably null	Het
Herc2	C	A	7: 55,806,649 (GRCm39)	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,298,786 (GRCm39)	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,186,445 (GRCm39)	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,407,031 (GRCm39)	Q222K	probably benign	Het
Klra6	A	T	6: 129,995,881 (GRCm39)	M159K	probably benign	Het
Lzts3	T	C	2: 130,479,306 (GRCm39)	T36A	probably damaging	Het
Mgam	T	A	6: 40,724,854 (GRCm39)	Y443*	probably null	Het
Mmp23	T	A	4: 155,735,990 (GRCm39)	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,519 (GRCm39)	V132E	probably damaging	Het
Npas2	C	A	1: 39,331,843 (GRCm39)	T86N	probably damaging	Het
Or1e32	T	A	11: 73,705,650 (GRCm39)	H86L	probably benign	Het
Or5al7	C	T	2: 85,992,628 (GRCm39)	V222M	possibly damaging	Het
Papola	A	T	12: 105,786,605 (GRCm39)	E103V	probably benign	Het
Parp9	A	T	16: 35,767,921 (GRCm39)	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,877,666 (GRCm39)	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,455,080 (GRCm39)	Y487D	probably damaging	Het
Pira12	C	G	7: 3,901,049 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,778,181 (GRCm39)	D5G	probably damaging	Het
Plxnb1	T	C	9: 108,933,971 (GRCm39)	L733P	probably benign	Het
Ppfia4	T	C	1: 134,251,899 (GRCm39)	D425G	probably benign	Het
Prss2	T	G	6: 41,498,754 (GRCm39)	I6S	unknown	Het
Psme3ip1	A	G	8: 95,302,348 (GRCm39)	S228P	probably damaging	Het
Qrfprl	T	A	6: 65,433,142 (GRCm39)	F321I	probably damaging	Het
Qrich2	T	A	11: 116,344,979 (GRCm39)	I1693L	probably benign	Het
Rad52	T	C	6: 119,897,143 (GRCm39)	V324A	probably benign	Het
Rapgef2	A	T	3: 78,976,751 (GRCm39)	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Scaf1	A	G	7: 44,656,204 (GRCm39)		probably benign	Het
Sfxn5	T	C	6: 85,246,918 (GRCm39)	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,073,701 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,164,183 (GRCm39)	D62G	possibly damaging	Het
Syt1	A	G	10: 108,336,597 (GRCm39)	V357A	probably benign	Het
Tenm2	T	A	11: 35,937,621 (GRCm39)	D1685V	probably damaging	Het
Tmc3	A	G	7: 83,252,543 (GRCm39)	T315A	probably benign	Het
Tmem266	T	C	9: 55,344,493 (GRCm39)	L375P	probably benign	Het
Tsks	T	G	7: 44,603,263 (GRCm39)	L355R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,203,041 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,532,087 (GRCm39)	V102D	probably damaging	Het
Usp44	G	A	10: 93,683,010 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,575,983 (GRCm39)	F527S	probably benign	Het
Zfp101	A	C	17: 33,600,720 (GRCm39)	Y345*	probably null	Het
Zfp160	C	A	17: 21,247,124 (GRCm39)	A558E	probably benign	Het
Zfp236	T	C	18: 82,622,372 (GRCm39)	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,181,586 (GRCm39)	D481E	probably benign	Het
Zswim4	A	G	8: 84,952,774 (GRCm39)	V396A	probably benign	Het

Other mutations in Ephx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ephx2	APN	14	66,330,286 (GRCm39)	missense	probably benign
IGL01143:Ephx2	APN	14	66,326,971 (GRCm39)	missense	probably damaging	1.00
IGL02058:Ephx2	APN	14	66,341,173 (GRCm39)	critical splice donor site	probably null
IGL02164:Ephx2	APN	14	66,341,169 (GRCm39)	splice site	probably benign
IGL02606:Ephx2	APN	14	66,323,741 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Ephx2	UTSW	14	66,339,671 (GRCm39)	missense	probably damaging	0.99
R0396:Ephx2	UTSW	14	66,345,512 (GRCm39)	missense	probably benign	0.03
R0732:Ephx2	UTSW	14	66,324,412 (GRCm39)	critical splice donor site	probably null
R0762:Ephx2	UTSW	14	66,339,628 (GRCm39)	missense	probably damaging	1.00
R1444:Ephx2	UTSW	14	66,344,769 (GRCm39)	missense	probably damaging	1.00
R1689:Ephx2	UTSW	14	66,324,475 (GRCm39)	nonsense	probably null
R1735:Ephx2	UTSW	14	66,325,752 (GRCm39)	missense	probably benign
R1871:Ephx2	UTSW	14	66,322,183 (GRCm39)	missense	probably damaging	1.00
R4210:Ephx2	UTSW	14	66,322,393 (GRCm39)	missense	probably damaging	1.00
R5130:Ephx2	UTSW	14	66,345,511 (GRCm39)	missense	probably damaging	0.97
R5800:Ephx2	UTSW	14	66,344,751 (GRCm39)	missense	probably benign	0.38
R6013:Ephx2	UTSW	14	66,347,691 (GRCm39)	missense	probably benign	0.19
R6076:Ephx2	UTSW	14	66,330,297 (GRCm39)	missense	probably damaging	1.00
R6193:Ephx2	UTSW	14	66,349,669 (GRCm39)	missense	probably benign	0.12
R7324:Ephx2	UTSW	14	66,322,803 (GRCm39)	missense	probably damaging	1.00
R7390:Ephx2	UTSW	14	66,347,904 (GRCm39)
R7504:Ephx2	UTSW	14	66,339,066 (GRCm39)	missense	probably damaging	0.99
R7759:Ephx2	UTSW	14	66,326,968 (GRCm39)	missense	possibly damaging	0.67
R7814:Ephx2	UTSW	14	66,347,678 (GRCm39)	missense	probably benign	0.09
R7863:Ephx2	UTSW	14	66,344,692 (GRCm39)	nonsense	probably null
R8003:Ephx2	UTSW	14	66,361,782 (GRCm39)	critical splice donor site	probably null
R8157:Ephx2	UTSW	14	66,345,506 (GRCm39)	missense	probably damaging	1.00
R8169:Ephx2	UTSW	14	66,349,602 (GRCm39)	splice site	probably null
R8804:Ephx2	UTSW	14	66,324,469 (GRCm39)	missense	probably benign	0.02
R8817:Ephx2	UTSW	14	66,344,725 (GRCm39)	missense	probably benign	0.10
R8931:Ephx2	UTSW	14	66,322,441 (GRCm39)	splice site	probably benign
R9072:Ephx2	UTSW	14	66,323,688 (GRCm39)	nonsense	probably null
R9073:Ephx2	UTSW	14	66,323,688 (GRCm39)	nonsense	probably null
R9647:Ephx2	UTSW	14	66,326,957 (GRCm39)	missense	probably benign
RF023:Ephx2	UTSW	14	66,322,378 (GRCm39)	critical splice donor site	probably null
Z1088:Ephx2	UTSW	14	66,344,767 (GRCm39)	missense	probably benign	0.00
Z1177:Ephx2	UTSW	14	66,322,774 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGTAGGCAGTCAGAAAGC -3'
(R):5'- AGTCAGAAGCTAAGGCCTCCTG -3'

Sequencing Primer
(F):5'- ACAGTTCGTGTGATCTGGAAACTCC -3'
(R):5'- GGCCTTTGGTCAGATGGGAGAG -3'

Posted On

2018-02-27