|Institutional Source||Beutler Lab|
|Gene Name||CD226 antigen|
|Synonyms||TLiSA1, DNAM-1, Pta1, DNAM1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4804 (G1)|
|Chromosomal Location||89197431-89270201 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 89207168 bp|
|Amino Acid Change||Valine to Alanine at position 63 (V63A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043551 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037142] [ENSMUST00000097496]|
|Predicted Effect||possibly damaging
AA Change: V63A
PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V63A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and increased incidence of tumor formation and mortality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd226||
(F):5'- TGGCTTCGTCATCATTGGATC -3'
(R):5'- TGGGAGACACTTGCACTCAG -3'
(F):5'- GGCTTCGTCATCATTGGATCTAATC -3'
(R):5'- GAGACACTTGCACTCAGAAATG -3'