Incidental Mutation 'IGL00920:Cd209e'
ID28015
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: 0.051) question?
Stock #IGL00920
Quality Score
Status
Chromosome8
Chromosomal Location3847965-3854309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3849187 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 175 (D175G)
Ref Sequence ENSEMBL: ENSMUSP00000033888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033888]
Predicted Effect probably damaging
Transcript: ENSMUST00000033888
AA Change: D175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: D175G

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep78 T C 19: 15,981,486 I165V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Dpp9 T C 17: 56,200,599 T357A probably benign Het
Gm42416 T A 18: 36,952,767 M1K probably null Het
Gm428 T A 4: 73,687,442 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh5 A T 12: 74,976,493 D600E probably damaging Het
Ndst4 A G 3: 125,438,211 D143G probably damaging Het
Nrros A G 16: 32,147,620 F14S probably benign Het
Olfr1009 A T 2: 85,722,239 Y278F probably damaging Het
Olfr971 T C 9: 39,839,934 F167L probably benign Het
Pcdh7 A T 5: 57,720,131 I343F probably damaging Het
Piwil4 C T 9: 14,727,437 R264H probably damaging Het
Pnpt1 A G 11: 29,157,087 probably benign Het
Pycr2 T A 1: 180,906,393 probably benign Het
Rfx7 T A 9: 72,593,356 Y133N probably damaging Het
Slc17a3 A G 13: 23,856,481 I263V probably benign Het
Spink5 A T 18: 44,003,209 E562D probably damaging Het
Spty2d1 T C 7: 46,998,987 R65G probably damaging Het
Thbs1 C T 2: 118,113,201 T100I probably damaging Het
Triml1 T C 8: 43,138,682 N213S probably damaging Het
Trp53bp2 T C 1: 182,444,654 probably benign Het
Vmn2r9 T C 5: 108,848,024 I253V possibly damaging Het
Zan C T 5: 137,464,524 V798I unknown Het
Zfp608 C T 18: 54,889,831 M1504I probably benign Het
Other mutations in Cd209e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Cd209e APN 8 3852800 missense probably benign 0.05
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
Z1176:Cd209e UTSW 8 3849196 missense probably benign 0.30
Z1177:Cd209e UTSW 8 3851181 missense probably null 0.99
Posted On2013-04-17