Mutagenetix > Incidental Mutation

Incidental Mutation 'R9073:Ephx2'

692901

Institutional Source

Beutler Lab

Gene Symbol

Ephx2

Ensembl Gene

ENSMUSG00000022040

Gene Name

epoxide hydrolase 2, cytoplasmic

Synonyms

Eph2, sEH, sEP

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66321823-66361949 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 66323688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 481 (R481*)

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 null
Transcript: ENSMUST00000070515
AA Change: R481*

SMART Domains

Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: R481*

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 null
Transcript: ENSMUST00000224698
AA Change: R463*

Predicted Effect

probably null
Transcript: ENSMUST00000225309
AA Change: R415*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,921,374 (GRCm39)	Y190*	probably null	Het
Agbl3	T	C	6: 34,776,387 (GRCm39)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,500,350 (GRCm39)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,576,243 (GRCm39)	T93S	probably benign	Het
Apoc3	T	A	9: 46,144,532 (GRCm39)	I97F	probably benign	Het
Arid5a	A	G	1: 36,358,626 (GRCm39)	E401G	probably benign	Het
Atxn3	T	C	12: 101,903,730 (GRCm39)		probably null	Het
Brca1	C	T	11: 101,393,306 (GRCm39)		probably null	Het
C1ql3	T	A	2: 13,015,198 (GRCm39)	N154I	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccdc110	A	T	8: 46,395,875 (GRCm39)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,318,095 (GRCm39)	F226I	possibly damaging	Het
Clasp1	C	A	1: 118,390,193 (GRCm39)		probably null	Het
Commd8	TTGTCATCT	TT	5: 72,318,327 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,332,647 (GRCm39)	T262A	probably benign	Het
Eif4a2	G	A	16: 22,929,403 (GRCm39)	R234Q	probably benign	Het
Fbxo15	T	C	18: 84,983,645 (GRCm39)	I331T	possibly damaging	Het
Gfra2	A	G	14: 71,138,935 (GRCm39)	E121G	possibly damaging	Het
Git1	G	A	11: 77,389,901 (GRCm39)	A55T	probably benign	Het
Gm12887	G	T	4: 121,479,238 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,046,146 (GRCm39)	I553V	probably benign	Het
Hydin	G	A	8: 110,994,083 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,016,773 (GRCm39)	N1085S		Het
Kbtbd12	T	C	6: 88,595,422 (GRCm39)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,938,423 (GRCm39)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 110,962,664 (GRCm39)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,850,867 (GRCm39)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,753,859 (GRCm39)	D14G	probably benign	Het
Ly6l	G	A	15: 75,321,585 (GRCm39)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,378,884 (GRCm39)	F273L	probably benign	Het
Masp1	A	C	16: 23,288,671 (GRCm39)	S710A	probably benign	Het
Mcm10	G	A	2: 5,013,414 (GRCm39)	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,852,934 (GRCm39)	R682H	probably damaging	Het
Mink1	C	T	11: 70,499,207 (GRCm39)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,797,089 (GRCm39)	Q83L	probably damaging	Het
Nags	T	C	11: 102,038,347 (GRCm39)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,532,863 (GRCm39)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,459,870 (GRCm39)	D824G	probably benign	Het
Nwd1	A	T	8: 73,422,046 (GRCm39)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or4c101	A	C	2: 88,390,658 (GRCm39)	I271L	probably benign	Het
Or4k40	A	T	2: 111,250,705 (GRCm39)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or5b112	A	G	19: 13,319,238 (GRCm39)	T39A	possibly damaging	Het
Or5d37	T	A	2: 87,924,172 (GRCm39)	Q36L	probably benign	Het
Pan2	T	C	10: 128,151,050 (GRCm39)	M807T	probably damaging	Het
Parp8	A	T	13: 117,047,951 (GRCm39)	I222N	probably damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,328,833 (GRCm39)	L186P		Het
Ppargc1b	G	A	18: 61,443,730 (GRCm39)	R494W	probably damaging	Het
Prg4	G	T	1: 150,331,288 (GRCm39)	P462T	unknown	Het
Ptcd1	T	A	5: 145,091,525 (GRCm39)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,480,172 (GRCm39)	F693S	probably damaging	Het
Rad51b	T	G	12: 79,344,439 (GRCm39)		probably benign	Het
Rgs12	A	T	5: 35,177,753 (GRCm39)		probably benign	Het
Ribc2	A	C	15: 85,022,163 (GRCm39)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,224,195 (GRCm39)		probably null	Het
Sgf29	G	A	7: 126,271,826 (GRCm39)	V284M	probably damaging	Het
Skap2	C	T	6: 51,856,750 (GRCm39)		probably null	Het
Smap1	T	A	1: 23,961,154 (GRCm39)	E28V	probably damaging	Het
Smc3	A	G	19: 53,617,200 (GRCm39)	N538D	probably benign	Het
Spen	T	C	4: 141,203,702 (GRCm39)	T1642A	unknown	Het
Spred3	G	A	7: 28,865,955 (GRCm39)	R115*	probably null	Het
Sugt1	T	A	14: 79,866,293 (GRCm39)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,928,606 (GRCm39)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm39)	I1574T	probably benign	Het
Ticrr	T	A	7: 79,317,679 (GRCm39)	D404E	probably benign	Het
Tinag	T	A	9: 76,904,300 (GRCm39)		probably null	Het
Tpbg	A	T	9: 85,724,924 (GRCm39)		probably null	Het
Trak1	T	C	9: 121,289,554 (GRCm39)	L622P	probably damaging	Het
Ttn	C	T	2: 76,586,218 (GRCm39)	D21838N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,490,203 (GRCm39)	A7V	probably benign	Het
Yy1	G	T	12: 108,759,921 (GRCm39)	G195C	probably benign	Het
Zbtb17	T	A	4: 141,193,676 (GRCm39)	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,603,060 (GRCm39)	V668A	probably benign	Het
Zfp819	C	A	7: 43,266,570 (GRCm39)	T351K	probably damaging	Het
Zfp820	C	A	17: 22,039,031 (GRCm39)	S99I	possibly damaging	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
R6193:Ephx2	UTSW	14	66,326,961 (GRCm39)	missense	probably benign	0.01
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
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'- CTGGATGAAGGACAAGACTCC -3'
(R):5'- CACTGTCCCTGGCATAGTTGTC -3'

Sequencing Primer
(F):5'- TGGTTCTCAGTACACACATGGCAG -3'
(R):5'- CCCTGGCATAGTTGTCTCTGGATATG -3'

Posted On

2021-12-30