|Institutional Source||Beutler Lab|
|Gene Name||CD209a antigen|
|Synonyms||CIRE, DC-SIGN1, CD209, DC-SIGN, SIGNR5, Dcsign|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7570 (G1)|
|Chromosomal Location||3743397-3748984 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 3744151 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Alanine at position 217 (D217A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000012847 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000012847] [ENSMUST00000207979] [ENSMUST00000208960]|
AA Change: D217A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D217A
AA Change: D190A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D158A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Coding Region Coverage||
|Validation Efficiency||98% (104/106)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite altered lymphocyte numbers and increased inflammatory response.. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd209a||
(F):5'- TGCAGGAGACAAGCTACCTG -3'
(R):5'- GCACAAAGGCCTTGGTTGAC -3'
(F):5'- CTTGTCAAGGTTATCAATGGTCACAG -3'
(R):5'- CACAAAGGCCTTGGTTGACATGTC -3'