Incidental Mutation 'R6288:Epha2'
| ID |
509229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha2
|
| Ensembl Gene |
ENSMUSG00000006445 |
| Gene Name |
Eph receptor A2 |
| Synonyms |
Sek2, Eck, Myk2, Sek-2 |
| MMRRC Submission |
044458-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R6288 (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 T
at 141044344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 382
(A382V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
| AlphaFold |
Q03145 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006614
AA Change: A382V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: A382V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149002
|
| Meta Mutation Damage Score |
0.0706 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
T |
11: 58,184,421 (GRCm39) |
D380Y |
probably damaging |
Het |
| 4931406B18Rik |
T |
A |
7: 43,147,549 (GRCm39) |
E274V |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,802,922 (GRCm39) |
L192P |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,208,434 (GRCm39) |
I624F |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,526,040 (GRCm39) |
K219E |
possibly damaging |
Het |
| Bean1 |
T |
A |
8: 104,937,622 (GRCm39) |
L33Q |
probably damaging |
Het |
| Cdhr17 |
T |
A |
5: 17,061,283 (GRCm39) |
C738S |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,766,718 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,945,462 (GRCm39) |
D884G |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,122,227 (GRCm39) |
R707G |
probably benign |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp2d9 |
C |
T |
15: 82,340,616 (GRCm39) |
H422Y |
probably damaging |
Het |
| Fam151a |
A |
C |
4: 106,605,341 (GRCm39) |
T568P |
probably damaging |
Het |
| Fbln2 |
A |
T |
6: 91,210,263 (GRCm39) |
Y69F |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,092 (GRCm39) |
H1040L |
unknown |
Het |
| Gucy2g |
T |
C |
19: 55,215,945 (GRCm39) |
T476A |
probably benign |
Het |
| H3c7 |
A |
G |
13: 23,728,664 (GRCm39) |
T4A |
probably benign |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,519 (GRCm39) |
G75D |
probably benign |
Het |
| Inpp5b |
G |
A |
4: 124,679,020 (GRCm39) |
V476I |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,540,591 (GRCm39) |
L855Q |
probably damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,970,286 (GRCm39) |
I223V |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,226 (GRCm39) |
F98L |
probably benign |
Het |
| Pcolce2 |
T |
A |
9: 95,563,646 (GRCm39) |
Y211N |
probably damaging |
Het |
| Phf21b |
A |
C |
15: 84,739,272 (GRCm39) |
|
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,111 (GRCm39) |
E122G |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,030,772 (GRCm39) |
P1399S |
probably benign |
Het |
| Slc38a1 |
A |
G |
15: 96,484,759 (GRCm39) |
V267A |
probably benign |
Het |
| Sox11 |
A |
G |
12: 27,392,332 (GRCm39) |
F26L |
possibly damaging |
Het |
| Ssbp3 |
T |
A |
4: 106,903,277 (GRCm39) |
|
probably null |
Het |
| Trim12c |
C |
T |
7: 103,995,936 (GRCm39) |
V146I |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,748,802 (GRCm39) |
T1543K |
probably damaging |
Het |
| Zfp473 |
C |
A |
7: 44,382,958 (GRCm39) |
K457N |
probably 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 |
|
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 |
|
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'- CGTGAGTCTTACAGAGATCCAG -3'
(R):5'- CCTGTTTGGTTAATACTGACGC -3'
Sequencing Primer
(F):5'- TGACCTCCACTCTCTGGACAGG -3'
(R):5'- TAATACTGACGCTGGCAGTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation