|Institutional Source||Beutler Lab|
|Gene Name||CD209e antigen|
|Is this an essential gene?||Probably non essential (E-score: 0.048)|
|Stock #||R2040 (G1)|
|Chromosomal Location||3847965-3854309 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 3849158 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 185 (N185Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033888 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033888]|
|Predicted Effect||probably damaging
AA Change: N185Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N185Y
|Meta Mutation Damage Score||0.27|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
|MGI Phenotype||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 DC-SIGN because of its expression on the surface of dendritic cells and macrophages. 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 rare but 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 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd209e||
(F):5'- TGCCCATAGACAGGGAGTAGGA -3'
(R):5'- AAGACTTCATACGATGCAGGT -3'
(F):5'- AACTGGGAAACGCATGAGTG -3'
(R):5'- AAGGTCTGTCCATCACGATG -3'