Incidental Mutation 'R1871:Ephx2'
ID 210773
Institutional Source Beutler Lab
Gene Symbol Ephx2
Ensembl Gene ENSMUSG00000022040
Gene Name epoxide hydrolase 2, cytoplasmic
Synonyms Eph2, sEH, sEP
MMRRC Submission 039893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1871 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 66321823-66361949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66322183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 538 (I538N)
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 damaging
Transcript: ENSMUST00000070515
AA Change: I538N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: I538N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000224698
AA Change: I520N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000225309
AA Change: I472N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.5701 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 97% (87/90)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,415,699 (GRCm39) probably null Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abce1 G A 8: 80,411,897 (GRCm39) Q588* probably null Het
Acads A T 5: 115,255,701 (GRCm39) C45S probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Ano4 T A 10: 88,828,889 (GRCm39) I517F probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Blk A T 14: 63,613,364 (GRCm39) S381R possibly damaging Het
Capn15 C A 17: 26,183,203 (GRCm39) W426L probably damaging Het
Chd6 T C 2: 160,832,176 (GRCm39) T999A probably damaging Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Crp T A 1: 172,526,172 (GRCm39) W86R possibly damaging Het
Ctnnal1 G A 4: 56,812,534 (GRCm39) L705F probably benign Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Cyp4f37 A G 17: 32,853,639 (GRCm39) D441G probably damaging Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Eef1g A T 19: 8,955,330 (GRCm39) D393V possibly damaging Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fat4 T A 3: 39,035,221 (GRCm39) S2958T possibly damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Gm10287 G T 3: 148,930,373 (GRCm39) noncoding transcript Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr158 A G 2: 21,820,426 (GRCm39) D641G probably damaging Het
Heph C A X: 95,542,690 (GRCm39) S561Y probably benign Het
Hgfac A G 5: 35,200,257 (GRCm39) *90W probably null Het
Hp1bp3 C G 4: 137,949,497 (GRCm39) P65R probably damaging Het
Ighv6-4 T A 12: 114,370,221 (GRCm39) Y58F probably benign Het
Jrk T C 15: 74,578,412 (GRCm39) D291G possibly damaging Het
Kdm4d A G 9: 14,375,679 (GRCm39) Y60H probably damaging Het
Khdrbs3 T C 15: 68,921,291 (GRCm39) Y203H probably damaging Het
Klhl6 A T 16: 19,775,793 (GRCm39) V255D possibly damaging Het
Krt9 C T 11: 100,081,614 (GRCm39) R305H probably damaging Het
Lama2 T G 10: 26,860,490 (GRCm39) N2999T probably damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lipa A T 19: 34,488,328 (GRCm39) L106Q probably damaging Het
Llph A T 10: 120,067,141 (GRCm39) N86I probably damaging Het
Lyst T A 13: 13,826,297 (GRCm39) N1601K probably benign Het
Mc1r T A 8: 124,134,275 (GRCm39) S9R probably benign Het
Mfsd14a A G 3: 116,434,969 (GRCm39) I249T probably benign Het
Mtfp1 G A 11: 4,044,012 (GRCm39) R73C probably benign Het
Myo1a A G 10: 127,555,540 (GRCm39) Q877R probably benign Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Ndst3 A T 3: 123,355,673 (GRCm39) F119I probably damaging Het
Or8k16 A G 2: 85,520,655 (GRCm39) N294S probably damaging Het
Patl1 T C 19: 11,902,596 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Plpp6 T C 19: 28,941,684 (GRCm39) F95S probably damaging Het
Polr2b T A 5: 77,474,374 (GRCm39) probably benign Het
Qars1 T G 9: 108,391,315 (GRCm39) probably null Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rnf213 T C 11: 119,340,955 (GRCm39) V3532A probably benign Het
Rubcnl T C 14: 75,279,849 (GRCm39) S411P possibly damaging Het
Scn1a C A 2: 66,148,369 (GRCm39) G1059W probably damaging Het
Sgms1 C T 19: 32,137,282 (GRCm39) V95I probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Sorl1 G A 9: 41,881,021 (GRCm39) Q2167* probably null Het
Stkld1 A G 2: 26,827,985 (GRCm39) probably benign Het
Taar8b T C 10: 23,967,900 (GRCm39) Y98C probably damaging Het
Tecta G A 9: 42,248,472 (GRCm39) L1977F probably damaging Het
Tecta G C 9: 42,248,636 (GRCm39) T1917R probably damaging Het
Topaz1 T A 9: 122,628,544 (GRCm39) S1544T probably benign Het
Tpx2 T C 2: 152,735,523 (GRCm39) I717T probably damaging Het
Tyk2 A T 9: 21,032,737 (GRCm39) V342E probably damaging Het
Ube4a A T 9: 44,856,235 (GRCm39) probably null Het
Unc80 A T 1: 66,549,876 (GRCm39) R711S possibly damaging Het
Ush2a C A 1: 188,558,665 (GRCm39) D3631E probably benign Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Xxylt1 A G 16: 30,776,235 (GRCm39) V367A probably damaging Het
Zfp735 A T 11: 73,601,412 (GRCm39) K119* probably null Het
Other mutations in Ephx2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGGATCTCTTCTCTGATGGC -3'
(R):5'- GGTATAATTCCCTGGTCACCTG -3'

Sequencing Primer
(F):5'- TGGCACAGGCATACTCAAAAG -3'
(R):5'- GACCTGTGAGCACTACAGGCTTAC -3'
Posted On 2014-06-30