Incidental Mutation 'IGL02606:Ephx2'
ID 300267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephx2
Ensembl Gene ENSMUSG00000022040
Gene Name epoxide hydrolase 2, cytoplasmic
Synonyms Eph2, sEH, sEP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL02606
Quality Score
Status
Chromosome 14
Chromosomal Location 66321823-66361949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66323741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 397 (N397S)
Ref Sequence ENSEMBL: ENSMUSP00000152894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070515] [ENSMUST00000224698] [ENSMUST00000225309]
AlphaFold P34914
Predicted Effect probably damaging
Transcript: ENSMUST00000070515
AA Change: N463S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: N463S

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: N445S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000225309
AA Change: N397S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,099,978 (GRCm39) N74I probably benign Het
Abr T C 11: 76,369,990 (GRCm39) K75R probably damaging Het
Adcy10 A C 1: 165,347,087 (GRCm39) D368A possibly damaging Het
Alas1 A G 9: 106,118,309 (GRCm39) probably benign Het
Alms1 T A 6: 85,576,949 (GRCm39) D168E probably benign Het
Ankar C T 1: 72,729,444 (GRCm39) A82T possibly damaging Het
Atp2c2 C T 8: 120,457,013 (GRCm39) T205I probably benign Het
Atp9a A T 2: 168,494,588 (GRCm39) L639Q probably damaging Het
Btf3l4 T C 4: 108,675,411 (GRCm39) D134G probably benign Het
Cacna1s T C 1: 136,007,257 (GRCm39) C425R probably damaging Het
Cct6b G T 11: 82,627,271 (GRCm39) T322N probably damaging Het
Col19a1 G A 1: 24,573,197 (GRCm39) R192* probably null Het
Cyp8b1 A T 9: 121,744,801 (GRCm39) F177Y probably damaging Het
Dnajc11 T A 4: 152,063,941 (GRCm39) N474K probably benign Het
Dusp16 T C 6: 134,737,999 (GRCm39) E13G probably damaging Het
Fancm T C 12: 65,122,913 (GRCm39) V145A possibly damaging Het
Fiz1 A G 7: 5,012,158 (GRCm39) L120P possibly damaging Het
Galnt6 C T 15: 100,612,100 (GRCm39) V181M probably damaging Het
Ginm1 A G 10: 7,646,163 (GRCm39) V279A probably damaging Het
Gja10 T G 4: 32,601,509 (GRCm39) I292L probably benign Het
Gnb3 T C 6: 124,814,378 (GRCm39) S136G probably benign Het
Gramd1a A T 7: 30,833,940 (GRCm39) V495E probably damaging Het
Il1rn G T 2: 24,235,462 (GRCm39) probably benign Het
Itpr3 A G 17: 27,333,486 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,937 (GRCm39) S229P possibly damaging Het
Kdm4a T C 4: 118,017,486 (GRCm39) T527A probably benign Het
Kif14 C T 1: 136,424,331 (GRCm39) A982V probably damaging Het
Klf6 A G 13: 5,916,734 (GRCm39) K293R probably damaging Het
Letmd1 A G 15: 100,372,972 (GRCm39) D92G probably damaging Het
Lmod1 G A 1: 135,292,218 (GRCm39) V358M probably benign Het
Ndufs1 A T 1: 63,199,011 (GRCm39) D295E probably damaging Het
Nek4 A G 14: 30,685,916 (GRCm39) N283S probably benign Het
Nhsl1 A G 10: 18,387,385 (GRCm39) T220A probably damaging Het
Nucks1 T A 1: 131,852,363 (GRCm39) D71E probably damaging Het
Or4n4 T C 14: 50,519,530 (GRCm39) Y60C probably damaging Het
Or8g18 C A 9: 39,149,490 (GRCm39) V77F probably damaging Het
Pkhd1l1 A G 15: 44,452,852 (GRCm39) T3926A probably benign Het
Pptc7 T A 5: 122,451,651 (GRCm39) probably benign Het
Prdm11 A G 2: 92,805,948 (GRCm39) V334A probably benign Het
Ptdss2 C A 7: 140,732,911 (GRCm39) C231* probably null Het
R3hdm1 C T 1: 128,118,456 (GRCm39) P570S probably benign Het
Rlbp1 T C 7: 79,027,037 (GRCm39) T208A possibly damaging Het
Rnaseh2a T G 8: 85,686,723 (GRCm39) D142A probably damaging Het
Rufy4 C T 1: 74,172,509 (GRCm39) probably benign Het
Tektl1 A G 10: 78,584,300 (GRCm39) Y372H probably benign Het
Tlcd4 G T 3: 121,022,013 (GRCm39) D128E possibly damaging Het
Ttn A G 2: 76,646,565 (GRCm39) I11081T possibly damaging Het
Ubap2l A T 3: 89,945,735 (GRCm39) S173R probably damaging Het
Vmn1r80 A G 7: 11,926,959 (GRCm39) N23S probably damaging Het
Vwce C A 19: 10,632,712 (GRCm39) probably benign 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
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
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
Posted On 2015-04-16