Incidental Mutation 'R7987:Epha2'
| ID |
651521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha2
|
| Ensembl Gene |
ENSMUSG00000006445 |
| Gene Name |
Eph receptor A2 |
| Synonyms |
Sek2, Eck, Myk2, Sek-2 |
| MMRRC Submission |
046028-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
R7987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141028551-141056695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141035791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 76
(Q76K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
| AlphaFold |
Q03145 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006614
AA Change: Q76K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: Q76K
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (50/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
G |
T |
2: 32,464,317 (GRCm39) |
Q161K |
unknown |
Het |
| Acsl5 |
T |
C |
19: 55,266,405 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,754,987 (GRCm39) |
I695N |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,356 (GRCm39) |
D2176G |
unknown |
Het |
| Atp6v0a2 |
G |
A |
5: 124,797,050 (GRCm39) |
G810D |
probably damaging |
Het |
| Bod1l |
A |
C |
5: 41,952,413 (GRCm39) |
N2868K |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,060,769 (GRCm39) |
T526A |
probably benign |
Het |
| C9 |
T |
A |
15: 6,496,943 (GRCm39) |
Y213* |
probably null |
Het |
| Cacna1i |
G |
A |
15: 80,204,553 (GRCm39) |
|
probably null |
Het |
| Card6 |
T |
A |
15: 5,130,007 (GRCm39) |
N463I |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,319 (GRCm39) |
Y485C |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,917,194 (GRCm39) |
F260L |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,963,498 (GRCm39) |
D2304G |
probably damaging |
Het |
| Dnase1 |
A |
G |
16: 3,855,834 (GRCm39) |
D55G |
probably damaging |
Het |
| Ecsit |
C |
A |
9: 21,984,780 (GRCm39) |
R296L |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,778 (GRCm39) |
D403G |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,691,432 (GRCm39) |
V252E |
probably damaging |
Het |
| Fmnl3 |
T |
A |
15: 99,225,979 (GRCm39) |
H225L |
possibly damaging |
Het |
| Gm4565 |
A |
C |
7: 22,282,812 (GRCm39) |
M2R |
probably benign |
Het |
| Gpr146 |
G |
T |
5: 139,378,440 (GRCm39) |
A81S |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,541,100 (GRCm39) |
S419* |
probably null |
Het |
| Hps5 |
A |
C |
7: 46,418,475 (GRCm39) |
I865S |
probably benign |
Het |
| Hsp90ab1 |
A |
C |
17: 45,882,532 (GRCm39) |
I54S |
probably damaging |
Het |
| Hyal4 |
T |
G |
6: 24,763,865 (GRCm39) |
M342R |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,927,470 (GRCm39) |
T987A |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,931 (GRCm39) |
T1428A |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,959 (GRCm39) |
D893G |
probably benign |
Het |
| Mst1r |
A |
T |
9: 107,789,997 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
G |
T |
5: 148,168,836 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 70,161,277 (GRCm39) |
T1174A |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,534 (GRCm39) |
R424H |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,831,462 (GRCm39) |
E33G |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,838 (GRCm39) |
I31V |
probably benign |
Het |
| Or7d10 |
T |
C |
9: 19,831,610 (GRCm39) |
F35S |
possibly damaging |
Het |
| Palm |
C |
T |
10: 79,629,539 (GRCm39) |
|
probably benign |
Het |
| Papln |
A |
G |
12: 83,822,156 (GRCm39) |
E337G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,285,743 (GRCm39) |
D263G |
unknown |
Het |
| Slc10a7 |
T |
A |
8: 79,423,843 (GRCm39) |
F202I |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,986,526 (GRCm39) |
I455V |
probably benign |
Het |
| Snip1 |
G |
T |
4: 124,960,732 (GRCm39) |
G63W |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,888,857 (GRCm39) |
Y1981F |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,820 (GRCm39) |
T36A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,194 (GRCm39) |
S2746P |
possibly damaging |
Het |
| Tob2 |
G |
A |
15: 81,735,681 (GRCm39) |
P96L |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,885,744 (GRCm39) |
Y1816N |
probably damaging |
Het |
| Trpc3 |
A |
G |
3: 36,698,318 (GRCm39) |
I647T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,721,905 (GRCm39) |
S6600P |
unknown |
Het |
| Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,159 (GRCm39) |
I116T |
probably benign |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,264 (GRCm39) |
Y308* |
probably null |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,015 (GRCm39) |
T296I |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,772,016 (GRCm39) |
T562A |
probably benign |
Het |
| Wdfy2 |
A |
G |
14: 63,189,380 (GRCm39) |
D283G |
possibly damaging |
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 |
|
|
R6817:Epha2
|
UTSW |
4 |
141,036,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TTCTTCCCTGTAGAATGAAGGC -3'
(R):5'- TTGGTGCCATAGTCCACATC -3'
Sequencing Primer
(F):5'- GCTTGGACTACATGAGACACTGTC -3'
(R):5'- CACATCTGACTCTGCATAGTAGAGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation