|Institutional Source||Beutler Lab|
|Gene Name||ephrin A2|
|Synonyms||ephrin A6, LERK-6, Elf-1, Ephrin-A2, Epl6, Cek7-L|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1926 (G1)|
|Chromosomal Location||80179482-80190010 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80186876 bp|
|Amino Acid Change||Tyrosine to Histidine at position 85 (Y85H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003154 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003154]|
|Predicted Effect||probably damaging
AA Change: Y85H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y85H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozgous null mice exhibit increased neural progenitor cell proliferation and abnormalities in sensory projections to the superior colliculus [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Efna2||
(F):5'- ATGGGTGTGGACCTCAGATC -3'
(R):5'- CGGTTTCACCATTTGCTAAGG -3'
(F):5'- GTGTGGACCTCAGATCCGTCTC -3'
(R):5'- CCTGGGCTACTCACAGATGTAGTAG -3'