Incidental Mutation 'R6696:Epha2'
| ID |
528572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha2
|
| Ensembl Gene |
ENSMUSG00000006445 |
| Gene Name |
Eph receptor A2 |
| Synonyms |
Sek2, Eck, Myk2, Sek-2 |
| MMRRC Submission |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141028551-141056695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141048850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 606
(T606A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006614]
|
| AlphaFold |
Q03145 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006614
AA Change: T606A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: T606A
| 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 |
0.0666 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
| Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
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 |
|
R6288:Epha2
|
UTSW |
4 |
141,044,344 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TCCTGAGGTCCCTAGTCTTG -3'
(R):5'- TTGATGGCCACCGGTATCTC -3'
Sequencing Primer
(F):5'- AGGTCCCTAGTCTTGTGGCTTTC -3'
(R):5'- TTCCCCGAGGATGCCTTCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation