Incidental Mutation 'PIT4618001:Ephx2'
| ID |
555706 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
PIT4618001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
66321823-66361949 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66339671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 250
(F250L)
|
| 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: F250L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: F250L
| 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 damaging
Transcript: ENSMUST00000224698
AA Change: F232L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225309
AA Change: F184L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
| Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
| Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
| Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
| Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
| I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
| Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
| Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
| Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
| Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
| Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
| Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
| Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACCTTCTAATGCAGATGTC -3'
(R):5'- CCAGCCATTTAACCTTTGGGTC -3'
Sequencing Primer
(F):5'- GTCTTGAGAGTCAATACAGCTCC -3'
(R):5'- AGCCATTTAACCTTTGGGTCTTTGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation