Incidental Mutation 'R5864:Epha2'
ID |
454052 |
Institutional Source |
Beutler Lab
|
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 # |
R5864 (G1)
|
Quality Score |
180 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
141028551-141056695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141035738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 58
(M58K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
AlphaFold |
Q03145 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006614
AA Change: M58K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006614 Gene: ENSMUSG00000006445 AA Change: M58K
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: ENSMUST00000131026
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145523
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
A |
T |
12: 84,090,178 (GRCm39) |
I292F |
probably benign |
Het |
Adamdec1 |
A |
G |
14: 68,807,551 (GRCm39) |
S370P |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,698,324 (GRCm39) |
K692R |
probably benign |
Het |
Ano6 |
T |
C |
15: 95,818,261 (GRCm39) |
|
probably null |
Het |
Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
Bbs12 |
C |
T |
3: 37,373,639 (GRCm39) |
T144I |
probably damaging |
Het |
C8g |
C |
T |
2: 25,388,955 (GRCm39) |
G186D |
probably damaging |
Het |
Clptm1l |
T |
C |
13: 73,754,403 (GRCm39) |
F109S |
probably damaging |
Het |
Coa8 |
G |
A |
12: 111,717,652 (GRCm39) |
V171I |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,252,973 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
T |
C |
16: 30,078,501 (GRCm39) |
D400G |
probably damaging |
Het |
Dgke |
G |
C |
11: 88,941,288 (GRCm39) |
Y298* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,297,159 (GRCm39) |
R1451Q |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,038,584 (GRCm39) |
D90G |
probably damaging |
Het |
Dok7 |
A |
C |
5: 35,223,890 (GRCm39) |
D143A |
probably damaging |
Het |
Elk3 |
G |
A |
10: 93,120,653 (GRCm39) |
A62V |
probably damaging |
Het |
Erp27 |
G |
T |
6: 136,885,098 (GRCm39) |
D233E |
probably benign |
Het |
Gm5174 |
T |
A |
10: 86,493,045 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,760,107 (GRCm39) |
D214G |
probably damaging |
Het |
Hrob |
G |
A |
11: 102,145,972 (GRCm39) |
E83K |
probably benign |
Het |
Ifi35 |
A |
T |
11: 101,349,069 (GRCm39) |
I238F |
probably damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,311,467 (GRCm39) |
T983A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,403,374 (GRCm39) |
K2066N |
possibly damaging |
Het |
Mansc1 |
T |
G |
6: 134,587,816 (GRCm39) |
|
probably null |
Het |
Mapre3 |
T |
C |
5: 31,020,582 (GRCm39) |
F101S |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,812,357 (GRCm39) |
T58A |
probably benign |
Het |
Mical1 |
G |
T |
10: 41,362,064 (GRCm39) |
R857L |
possibly damaging |
Het |
Nacad |
T |
C |
11: 6,550,581 (GRCm39) |
D870G |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,702,607 (GRCm39) |
D118G |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,325,380 (GRCm39) |
L26Q |
probably damaging |
Het |
Or10a3m |
A |
G |
7: 108,312,671 (GRCm39) |
D25G |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,464,693 (GRCm39) |
S281P |
possibly damaging |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,814 (GRCm39) |
V696E |
probably damaging |
Het |
Pde4d |
G |
T |
13: 110,074,582 (GRCm39) |
A396S |
probably benign |
Het |
Pecam1 |
G |
T |
11: 106,575,076 (GRCm39) |
C510* |
probably null |
Het |
Pga5 |
C |
T |
19: 10,652,513 (GRCm39) |
G76S |
probably damaging |
Het |
Phldb3 |
A |
T |
7: 24,323,571 (GRCm39) |
H435L |
possibly damaging |
Het |
Piezo1 |
T |
C |
8: 123,213,112 (GRCm39) |
R1884G |
possibly damaging |
Het |
Ripk4 |
T |
C |
16: 97,564,782 (GRCm39) |
H43R |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,412,476 (GRCm39) |
V785A |
probably damaging |
Het |
Safb2 |
A |
G |
17: 56,873,491 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
T |
C |
2: 4,910,393 (GRCm39) |
F288L |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,586,266 (GRCm39) |
|
probably null |
Het |
Siglece |
A |
G |
7: 43,308,741 (GRCm39) |
L204P |
probably damaging |
Het |
Sis |
T |
C |
3: 72,857,151 (GRCm39) |
D380G |
probably damaging |
Het |
Slamf9 |
G |
T |
1: 172,304,033 (GRCm39) |
R126L |
probably benign |
Het |
Sorl1 |
A |
G |
9: 42,003,669 (GRCm39) |
L209P |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,095,925 (GRCm39) |
I310S |
probably damaging |
Het |
Tex52 |
A |
G |
6: 128,356,645 (GRCm39) |
T113A |
probably benign |
Het |
Trav6-3 |
T |
A |
14: 53,667,628 (GRCm39) |
Y33* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,914,943 (GRCm39) |
E836G |
possibly damaging |
Het |
Wdsub1 |
C |
T |
2: 59,708,819 (GRCm39) |
C18Y |
probably damaging |
Het |
Zfp341 |
C |
A |
2: 154,485,474 (GRCm39) |
H637N |
possibly damaging |
Het |
Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
Zfp612 |
G |
A |
8: 110,816,358 (GRCm39) |
D522N |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCCCTGTAGAATGAAGGC -3'
(R):5'- GTCTCTTTGCATGAGCTGGC -3'
Sequencing Primer
(F):5'- TCCCTCAGGACACAGTGAGTTTG -3'
(R):5'- CATGAGCTGGCGCCACC -3'
|
Posted On |
2017-02-10 |