Incidental Mutation 'R3872:Epha2'
ID |
276600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha2
|
Ensembl Gene |
ENSMUSG00000006445 |
Gene Name |
Eph receptor A2 |
Synonyms |
Sek2, Eck, Myk2, Sek-2 |
MMRRC Submission |
040790-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.715)
|
Stock # |
R3872 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
141028551-141056695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141035716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 51
(W51R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
AlphaFold |
Q03145 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006614
AA Change: W51R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006614 Gene: ENSMUSG00000006445 AA Change: W51R
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
|
Meta Mutation Damage Score |
0.9277 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,901,045 (GRCm39) |
E1117G |
possibly damaging |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Bhmt-ps1 |
T |
C |
4: 26,369,201 (GRCm39) |
|
noncoding transcript |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
C |
7: 24,971,124 (GRCm39) |
V285A |
possibly damaging |
Het |
Col19a1 |
A |
G |
1: 24,614,408 (GRCm39) |
|
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,890,858 (GRCm39) |
N1812S |
possibly damaging |
Het |
Cry1 |
T |
C |
10: 84,969,024 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
Dlx5 |
G |
T |
6: 6,878,209 (GRCm39) |
P274T |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,411,656 (GRCm39) |
K3675R |
possibly damaging |
Het |
Dpp6 |
A |
G |
5: 27,926,056 (GRCm39) |
Y710C |
probably damaging |
Het |
Dsc3 |
C |
A |
18: 20,104,565 (GRCm39) |
K587N |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Epcam |
C |
A |
17: 87,947,354 (GRCm39) |
T36K |
possibly damaging |
Het |
Eya4 |
A |
T |
10: 23,031,870 (GRCm39) |
I251N |
probably damaging |
Het |
Fbxo21 |
G |
A |
5: 118,138,394 (GRCm39) |
V447I |
possibly damaging |
Het |
Firrm |
A |
T |
1: 163,814,533 (GRCm39) |
S137T |
probably damaging |
Het |
Frg2f1 |
T |
A |
4: 119,388,155 (GRCm39) |
T115S |
possibly damaging |
Het |
Hecw2 |
A |
T |
1: 53,871,916 (GRCm39) |
|
probably benign |
Het |
Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
Iqca1 |
A |
T |
1: 90,017,203 (GRCm39) |
Y411N |
probably damaging |
Het |
Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,755,615 (GRCm39) |
F47L |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,932,243 (GRCm39) |
H27R |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,138,342 (GRCm39) |
E791G |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,954,543 (GRCm39) |
K669* |
probably null |
Het |
Msmo1 |
C |
T |
8: 65,175,497 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
C |
7: 141,226,867 (GRCm39) |
T1387A |
probably benign |
Het |
Myo1g |
C |
T |
11: 6,464,886 (GRCm39) |
V463I |
possibly damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
Pde10a |
C |
A |
17: 8,975,923 (GRCm39) |
T16K |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
Phb2 |
G |
A |
6: 124,693,394 (GRCm39) |
|
probably null |
Het |
Plin3 |
A |
G |
17: 56,591,181 (GRCm39) |
S200P |
probably damaging |
Het |
Plxna1 |
C |
A |
6: 89,309,674 (GRCm39) |
E1087* |
probably null |
Het |
Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
Sacs |
C |
T |
14: 61,385,517 (GRCm39) |
T6M |
probably benign |
Het |
Scfd1 |
A |
G |
12: 51,438,979 (GRCm39) |
Y147C |
probably damaging |
Het |
Septin1 |
T |
C |
7: 126,814,447 (GRCm39) |
|
probably benign |
Het |
Septin5 |
A |
G |
16: 18,441,723 (GRCm39) |
L344P |
probably damaging |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Slc35f1 |
A |
G |
10: 52,898,006 (GRCm39) |
D139G |
possibly damaging |
Het |
Sod3 |
A |
G |
5: 52,525,631 (GRCm39) |
Y110C |
probably damaging |
Het |
Stk35 |
T |
C |
2: 129,652,495 (GRCm39) |
V332A |
possibly damaging |
Het |
Tacc2 |
C |
T |
7: 130,224,152 (GRCm39) |
T279M |
probably benign |
Het |
Tdo2 |
T |
C |
3: 81,875,393 (GRCm39) |
E187G |
probably benign |
Het |
Tmem150b |
A |
T |
7: 4,727,360 (GRCm39) |
Y48* |
probably null |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r60 |
C |
T |
7: 41,785,878 (GRCm39) |
S227L |
probably benign |
Het |
Vps33a |
C |
T |
5: 123,669,255 (GRCm39) |
V549I |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,298,868 (GRCm39) |
Y449* |
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTCCCTGTAGAATGAAGGC -3'
(R):5'- AGCTGTTACAGTCTCGCAC -3'
Sequencing Primer
(F):5'- GGTGGTACATACTTGTCACTTACAC -3'
(R):5'- GTTACAGTCTCGCACCGTGAAC -3'
|
Posted On |
2015-04-06 |