Incidental Mutation 'IGL00833:Cd209e'
ID9490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209e
Ensembl Gene ENSMUSG00000040197
Gene NameCD209e antigen
SynonymsmSIGNR4, SIGNR4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL00833
Quality Score
Status
Chromosome8
Chromosomal Location3847965-3854309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 3852800 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 102 (M102R)
Ref Sequence ENSEMBL: ENSMUSP00000033888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033888]
Predicted Effect probably benign
Transcript: ENSMUST00000033888
AA Change: M102R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: M102R

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 77 198 4.01e-33 SMART
Coding Region Coverage
Validation Efficiency
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
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,217,180 E350G probably damaging Het
Apob T C 12: 8,010,101 V2861A probably benign Het
Bpifb9a C T 2: 154,264,275 Q358* probably null Het
Cbfa2t2 T A 2: 154,528,875 Y423N probably damaging Het
Ddx42 T A 11: 106,231,178 V173D possibly damaging Het
Dnah11 A G 12: 118,179,580 F443L probably damaging Het
Exoc4 G A 6: 33,971,924 E901K probably damaging Het
Gp5 T C 16: 30,309,466 D130G possibly damaging Het
H2-T3 T G 17: 36,187,041 S327R probably benign Het
Myo1e T C 9: 70,338,778 I417T probably damaging Het
Nasp A G 4: 116,602,736 V377A probably damaging Het
Nbn A G 4: 15,964,320 I132V probably benign Het
Nckap5 C A 1: 126,027,152 K622N probably damaging Het
Nlrp4e G A 7: 23,340,471 V740I probably benign Het
Polr3gl T G 3: 96,578,560 D130A probably damaging Het
Ptprc T C 1: 138,078,492 K784R possibly damaging Het
Sycp1 A G 3: 102,876,301 probably null Het
Tg C T 15: 66,688,801 T1004I probably benign Het
Tmco5b T A 2: 113,296,849 I255N probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Zeb1 A G 18: 5,767,774 T762A probably benign Het
Zfp345 T C 2: 150,472,729 E296G probably damaging Het
Other mutations in Cd209e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Cd209e APN 8 3849187 missense probably damaging 1.00
IGL01132:Cd209e APN 8 3851274 missense probably benign 0.18
IGL02499:Cd209e APN 8 3854238 missense probably benign
R0124:Cd209e UTSW 8 3851274 missense probably benign 0.08
R0268:Cd209e UTSW 8 3849125 missense probably benign 0.34
R0540:Cd209e UTSW 8 3851265 missense probably benign 0.04
R0744:Cd209e UTSW 8 3853205 missense probably benign 0.00
R0836:Cd209e UTSW 8 3853205 missense probably benign 0.00
R1241:Cd209e UTSW 8 3849124 missense probably damaging 0.99
R1367:Cd209e UTSW 8 3849084 makesense probably null
R2040:Cd209e UTSW 8 3849158 missense probably damaging 1.00
R2136:Cd209e UTSW 8 3853248 missense probably benign 0.00
R4787:Cd209e UTSW 8 3851181 missense probably null 0.69
R6283:Cd209e UTSW 8 3849212 nonsense probably null
R6338:Cd209e UTSW 8 3849154 missense probably damaging 1.00
R6894:Cd209e UTSW 8 3853569 missense possibly damaging 0.48
Posted On2012-12-06