|Institutional Source||Beutler Lab|
|Gene Name||Eph receptor A3|
|Synonyms||Tyro4, End3, Cek4, Hek, Hek4, Mek4|
|Is this an essential gene?||Possibly non essential (E-score: 0.349)|
|Stock #||R5044 (G1)|
|Chromosomal Location||63543534-63864175 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 63602287 bp|
|Amino Acid Change||Lysine to Arginine at position 580 (K580R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066554 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064405] [ENSMUST00000232049]|
|Predicted Effect||possibly damaging
AA Change: K580R
PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: K580R
|Predicted Effect||probably benign
AA Change: K579R
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|Meta Mutation Damage Score||0.0873|
|Coding Region Coverage||
|Validation Efficiency||96% (73/76)|
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. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Epha3||
(F):5'- TTCTGAAACACCTCCATGGAG -3'
(R):5'- CATTAGGCAACCTTCCAGGGTAC -3'
(F):5'- CACCTCCATGGAGAAAACATTTC -3'
(R):5'- TTCAGGGGAAAGCTTGAG -3'