|Institutional Source||Beutler Lab|
|Gene Name||basal cell adhesion molecule|
|Synonyms||1200005K12Rik, Lu, B-CAM|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6853 (G1)|
|Chromosomal Location||19756131-19771016 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 19760406 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 355 (D355G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003061 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003061]|
|Predicted Effect||probably damaging
AA Change: D355G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D355G
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a null allele exhibit glomeruli abnormalities and increased thickness and disorganization of intestinal smooth muscle. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcam||
(F):5'- GCAAGGGTCACAGAATCCTAGG -3'
(R):5'- GCCCGTCAAGCTTTTATGGAG -3'
(F):5'- CGGGGCCATGAGAGGATG -3'
(R):5'- GGTCCTACCCTGAGCACTGTAAAG -3'