Incidental Mutation 'R6817:Epha2'
ID |
537372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha2
|
Ensembl Gene |
ENSMUSG00000006445 |
Gene Name |
Eph receptor A2 |
Synonyms |
Sek2, Eck, Myk2, Sek-2 |
MMRRC Submission |
044929-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.715)
|
Stock # |
R6817 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
141028551-141056695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141036305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 247
(H247R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
AlphaFold |
Q03145 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006614
AA Change: H247R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006614 Gene: ENSMUSG00000006445 AA Change: H247R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EPH_lbd
|
27 |
200 |
1.31e-112 |
SMART |
FN3
|
330 |
420 |
1.16e-6 |
SMART |
FN3
|
437 |
517 |
3.73e-10 |
SMART |
Pfam:EphA2_TM
|
538 |
611 |
5.9e-22 |
PFAM |
TyrKc
|
614 |
872 |
2.23e-135 |
SMART |
SAM
|
902 |
969 |
1.5e-21 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a null allele exhibit abnormal angiogenesis. Mice homozygous for a gene trap allele exhibit increased incidence of chemically-induced tumors, increased metastatic potential, and age-related cataracts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
Other mutations in Epha2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02148:Epha2
|
APN |
4 |
141,045,835 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Epha2
|
APN |
4 |
141,046,230 (GRCm39) |
splice site |
probably benign |
|
IGL03377:Epha2
|
APN |
4 |
141,049,723 (GRCm39) |
missense |
probably benign |
0.08 |
R0165:Epha2
|
UTSW |
4 |
141,049,203 (GRCm39) |
critical splice donor site |
probably null |
|
R0321:Epha2
|
UTSW |
4 |
141,035,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Epha2
|
UTSW |
4 |
141,049,358 (GRCm39) |
splice site |
probably null |
|
R1586:Epha2
|
UTSW |
4 |
141,045,916 (GRCm39) |
splice site |
probably benign |
|
R1695:Epha2
|
UTSW |
4 |
141,033,828 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1721:Epha2
|
UTSW |
4 |
141,049,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Epha2
|
UTSW |
4 |
141,049,063 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1813:Epha2
|
UTSW |
4 |
141,035,857 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1875:Epha2
|
UTSW |
4 |
141,036,290 (GRCm39) |
missense |
probably benign |
0.02 |
R2226:Epha2
|
UTSW |
4 |
141,048,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R2314:Epha2
|
UTSW |
4 |
141,046,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R2342:Epha2
|
UTSW |
4 |
141,050,842 (GRCm39) |
missense |
probably benign |
0.00 |
R3872:Epha2
|
UTSW |
4 |
141,035,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R3927:Epha2
|
UTSW |
4 |
141,033,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Epha2
|
UTSW |
4 |
141,046,292 (GRCm39) |
missense |
probably benign |
|
R4795:Epha2
|
UTSW |
4 |
141,049,727 (GRCm39) |
splice site |
probably null |
|
R4974:Epha2
|
UTSW |
4 |
141,049,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R5055:Epha2
|
UTSW |
4 |
141,036,380 (GRCm39) |
missense |
probably benign |
0.09 |
R5123:Epha2
|
UTSW |
4 |
141,036,176 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5424:Epha2
|
UTSW |
4 |
141,046,251 (GRCm39) |
nonsense |
probably null |
|
R5522:Epha2
|
UTSW |
4 |
141,035,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R5657:Epha2
|
UTSW |
4 |
141,050,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Epha2
|
UTSW |
4 |
141,049,382 (GRCm39) |
missense |
probably benign |
|
R5864:Epha2
|
UTSW |
4 |
141,035,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R6151:Epha2
|
UTSW |
4 |
141,045,791 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6244:Epha2
|
UTSW |
4 |
141,044,223 (GRCm39) |
missense |
probably benign |
0.00 |
R6288:Epha2
|
UTSW |
4 |
141,044,344 (GRCm39) |
missense |
probably benign |
0.01 |
R6696:Epha2
|
UTSW |
4 |
141,048,850 (GRCm39) |
missense |
probably benign |
|
R6875:Epha2
|
UTSW |
4 |
141,055,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R6910:Epha2
|
UTSW |
4 |
141,048,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Epha2
|
UTSW |
4 |
141,036,068 (GRCm39) |
missense |
probably benign |
|
R7330:Epha2
|
UTSW |
4 |
141,035,764 (GRCm39) |
missense |
probably benign |
0.00 |
R7977:Epha2
|
UTSW |
4 |
141,035,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R7987:Epha2
|
UTSW |
4 |
141,035,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R8081:Epha2
|
UTSW |
4 |
141,049,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9095:Epha2
|
UTSW |
4 |
141,044,012 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9696:Epha2
|
UTSW |
4 |
141,047,834 (GRCm39) |
missense |
probably benign |
0.00 |
R9737:Epha2
|
UTSW |
4 |
141,045,814 (GRCm39) |
missense |
probably benign |
0.10 |
RF024:Epha2
|
UTSW |
4 |
141,050,717 (GRCm39) |
critical splice acceptor site |
unknown |
|
Z1177:Epha2
|
UTSW |
4 |
141,046,309 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAATGTCAAGCTGAACGTAG -3'
(R):5'- CCCCAATGTACTAAGGTGTTCC -3'
Sequencing Primer
(F):5'- GAAGGGCTTCTACCTGGC -3'
(R):5'- AAGGTGTTCCAATCACGTGC -3'
|
Posted On |
2018-10-18 |