|Institutional Source||Beutler Lab|
|Gene Name||Eph receptor B3|
|Synonyms||Tyro6, HEK2, MDK5, Sek4, Etk2, Cek10|
|Essential gene?||Probably essential (E-score: 0.901)|
|Stock #||R0196 (G1)|
|Chromosomal Location||21204755-21223305 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 21218054 bp (GRCm38)|
|Amino Acid Change||Asparagine to Isoleucine at position 343 (N343I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006112 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006112] [ENSMUST00000161063] [ENSMUST00000231316] [ENSMUST00000232407]|
AA Change: N343I
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N343I
AA Change: N89I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, 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. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ephb3||
(F):5'- ACCTAAGGGTGTGCTGTCTTCCTG -3'
(R):5'- CTGCCGAGGTACAAACTCTACGTTG -3'
(F):5'- tgaggtatggaggatggagaag -3'
(R):5'- TTGTCATCGCAGCGTGAAC -3'