|Institutional Source||Beutler Lab|
|Gene Name||ephrin B3|
|Synonyms||Epl8, EFL-6, Elk-L3, ELF-3, LERK-8, NLERK-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7638 (G1)|
|Chromosomal Location||69554092-69560205 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 69557220 bp|
|Amino Acid Change||Histidine to Arginine at position 132 (H132R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004036 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004036] [ENSMUST00000048139]|
|Predicted Effect||possibly damaging
AA Change: H132R
PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: H132R
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. 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. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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 similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations exhibit a hopping gait due to corticospinal tract defects, mutations that remove only the cytoplasmic domain of the protein do not result in the gait or CNS phenotypes, and a G244E mutation causes ataxia [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Efnb3||
(F):5'- TCATCACTCCTAGGTCCAGC -3'
(R):5'- AGATCTACTTTGTCCCCGGG -3'
(F):5'- TAGGTCCAGCCCTCCCCTG -3'
(R):5'- ACTCCTCTCCTAGTTATGAGTTCTAC -3'