|Institutional Source||Beutler Lab|
|Gene Name||CD48 antigen|
|Synonyms||Bcm-1, BCM1, BLAST-1, Sgp-60|
|Is this an essential gene?||Probably non essential (E-score: 0.065)|
|Stock #||R8041 (G1)|
|Chromosomal Location||171682009-171705258 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 171699390 bp|
|Amino Acid Change||Valine to Alanine at position 128 (V128A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064241 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015499] [ENSMUST00000068584]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: V128A
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: V128A
|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 CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in a slight increase in CD4+CD8- thymocytes and impaired T cell proliferation in response to mitogens, anti-CD3 antibodies, and alloantigens. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd48||
(F):5'- CAAAATTGCTCGCTGGCTC -3'
(R):5'- TGCTGCTTACAGGATTGCTG -3'
(F):5'- TGGCTCCATCTGTAGGAGACTC -3'
(R):5'- ACAGGATTGCTGACTTGGCAG -3'