|Institutional Source||Beutler Lab|
|Gene Name||Eph receptor B6|
|Is this an essential gene?||Possibly essential (E-score: 0.596)|
|Stock #||R2915 (G1)|
|Chromosomal Location||41605482-41620509 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 41614238 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 110 (F110L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110380 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114732]|
|Predicted Effect||probably damaging
AA Change: F110L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: F110L
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8495|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: T cell responses such as lymphokine secretion, proliferation, and the development of delayed-type skin hypersensitivity and experimental autoimmune encephalitis were compromised in homozygous null mutants. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ephb6||
(F):5'- TCCCTCTGCAAACTCTGAGC -3'
(R):5'- ACATTCAGCTGCAGTCCCAC -3'
(F):5'- CTCTGCAAACTCTGAGCAGTTATTG -3'
(R):5'- GTCCCACAGCCCATGAGGAAG -3'