|Institutional Source||Beutler Lab|
|Gene Name||Eph receptor A8|
|Synonyms||EphA8, Hek3, Eek|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8268 (G1)|
|Chromosomal Location||136929419-136956816 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 136938586 bp|
|Amino Acid Change||Leucine to Methionine at position 420 (L420M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030420 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030420]|
|Predicted Effect||probably damaging
AA Change: L420M
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: L420M
|Meta Mutation Damage Score||0.1158|
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of 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. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and grossly normal but exhibit a commissural defect, whereby tectal axons fail to project from the superior colliculus of the midbrain to the contralateral inferior colliculus and instead project to the ipsilateral cervical spinal cord. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Epha8||
(F):5'- AACTGATGACTGCCTCTGTGTTC -3'
(R):5'- TCACCTACAACGCAGTGTGC -3'
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- AGTGGAACTCGCTTCGT -3'