Incidental Mutation 'IGL03377:Epha2'
| ID |
420556 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Epha2
|
| Ensembl Gene |
ENSMUSG00000006445 |
| Gene Name |
Eph receptor A2 |
| Synonyms |
Sek2, Eck, Myk2, Sek-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
IGL03377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141028551-141056695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141049723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 776
(S776R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
| AlphaFold |
Q03145 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006614
AA Change: S776R
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: S776R
| 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
|
| 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 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 |
|---|
| Abcg3 |
T |
A |
5: 105,096,256 (GRCm39) |
I489L |
probably benign |
Het |
| Acox3 |
T |
C |
5: 35,751,676 (GRCm39) |
L237P |
probably damaging |
Het |
| Ahi1 |
T |
G |
10: 20,893,903 (GRCm39) |
I878S |
possibly damaging |
Het |
| Alox15 |
T |
A |
11: 70,240,488 (GRCm39) |
Y231F |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,238,700 (GRCm39) |
K342M |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,519 (GRCm39) |
I150M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,958 (GRCm39) |
Y822H |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,581,754 (GRCm39) |
Y628H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,449,056 (GRCm39) |
Y141N |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,116 (GRCm39) |
V166A |
probably damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,671,259 (GRCm39) |
A126T |
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,674,755 (GRCm39) |
E409G |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,678,456 (GRCm39) |
I621V |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,536,181 (GRCm39) |
|
probably null |
Het |
| Fam107b |
A |
T |
2: 3,779,481 (GRCm39) |
E52V |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,381 (GRCm39) |
N18S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,968,597 (GRCm39) |
F460I |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,800,247 (GRCm39) |
I329N |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,783,848 (GRCm39) |
S254G |
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,489,478 (GRCm39) |
H688Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,890,937 (GRCm39) |
E898G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,019,021 (GRCm39) |
D368E |
probably benign |
Het |
| Gucy1a1 |
T |
A |
3: 82,013,322 (GRCm39) |
H440L |
probably damaging |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,377 (GRCm39) |
D113V |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,727,964 (GRCm39) |
E554* |
probably null |
Het |
| Itpr2 |
A |
C |
6: 146,231,213 (GRCm39) |
V1182G |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,231,256 (GRCm39) |
T1135S |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,189,492 (GRCm39) |
I69T |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,345 (GRCm39) |
K354* |
probably null |
Het |
| Krt222 |
T |
A |
11: 99,127,339 (GRCm39) |
K159* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,529,369 (GRCm39) |
E2004G |
possibly damaging |
Het |
| Man2a2 |
A |
T |
7: 80,008,800 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,595,962 (GRCm39) |
F963L |
possibly damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,930,943 (GRCm39) |
E744G |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,028,644 (GRCm39) |
S140P |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,344,878 (GRCm39) |
F331L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,890,699 (GRCm39) |
G1798W |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,589 (GRCm39) |
V298D |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,353,341 (GRCm39) |
P110L |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,347,747 (GRCm39) |
|
probably null |
Het |
| Prdm5 |
A |
G |
6: 65,836,457 (GRCm39) |
H256R |
possibly damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,473 (GRCm39) |
Y267H |
probably damaging |
Het |
| Rfpl4 |
T |
G |
7: 5,113,464 (GRCm39) |
Y239S |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,846,953 (GRCm39) |
M592L |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,012 (GRCm39) |
H32L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,735 (GRCm39) |
T660S |
unknown |
Het |
| Slc26a2 |
T |
C |
18: 61,331,658 (GRCm39) |
N591S |
probably damaging |
Het |
| Slc9b2 |
C |
T |
3: 135,042,119 (GRCm39) |
A466V |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,180,492 (GRCm39) |
T637S |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,533,338 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,259,594 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,817 (GRCm39) |
M207V |
possibly damaging |
Het |
| Wdcp |
T |
G |
12: 4,900,691 (GRCm39) |
Y182* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,531,416 (GRCm39) |
T105A |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,913,168 (GRCm39) |
K30R |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation