|Institutional Source||Beutler Lab|
|Gene Name||Eph receptor A2|
|Synonyms||Myk2, Eck, Sek-2, Sek2|
|Is this an essential gene?||Probably essential (E-score: 0.827)|
|Stock #||R1721 (G1)|
|Chromosomal Location||141301240-141329384 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 141322652 bp|
|Amino Acid Change||Serine to Glycine at position 799 (S799G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006614 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006614]|
|Predicted Effect||probably damaging
AA Change: S799G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S799G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.116|
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
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||
|Other mutations in Epha2||
(F):5'- TACACCACAAGTGTGAGTCGGGAG -3'
(R):5'- TAGGCCACAGAACAACTGGTGC -3'
(F):5'- AGCTGGGGGATGTCACAC -3'
(R):5'- AGAACAACTGGTGCTGTCTC -3'