Incidental Mutation 'IGL02499:Cd209e'
ID 295924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209e
Ensembl Gene ENSMUSG00000040197
Gene Name CD209e antigen
Synonyms SIGNR4, mSIGNR4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02499
Quality Score
Status
Chromosome 8
Chromosomal Location 3897973-3904286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3904238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 6 (M6L)
Ref Sequence ENSEMBL: ENSMUSP00000033888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033888]
AlphaFold Q91ZW7
Predicted Effect probably benign
Transcript: ENSMUST00000033888
AA Change: M6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: M6L

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcb1a A G 5: 8,776,807 (GRCm39) N835S possibly damaging Het
Abr A T 11: 76,399,916 (GRCm39) F27Y probably benign Het
Adam5 C T 8: 25,271,581 (GRCm39) probably null Het
Alas1 A T 9: 106,118,520 (GRCm39) Y201N probably damaging Het
Aldoart1 T A 4: 72,770,476 (GRCm39) R111W possibly damaging Het
Arhgef25 A G 10: 127,021,460 (GRCm39) Y253H probably damaging Het
Arhgef28 G T 13: 98,090,291 (GRCm39) A1076E possibly damaging Het
Baz2b C T 2: 59,731,840 (GRCm39) R2066K possibly damaging Het
Bdh1 G T 16: 31,256,866 (GRCm39) R5L possibly damaging Het
Brap A G 5: 121,817,934 (GRCm39) Y358C probably damaging Het
Cad T C 5: 31,226,948 (GRCm39) V1235A probably damaging Het
Cadps G T 14: 12,822,725 (GRCm38) S5* probably null Het
Cd200r2 A G 16: 44,734,948 (GRCm39) T220A possibly damaging Het
Cdh23 G T 10: 60,220,958 (GRCm39) T1265K probably damaging Het
Clec16a T C 16: 10,512,540 (GRCm39) S828P probably benign Het
Dao A G 5: 114,152,002 (GRCm39) K107E possibly damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dvl1 T C 4: 155,939,237 (GRCm39) I250T probably benign Het
Dzip3 A C 16: 48,754,213 (GRCm39) L945V probably damaging Het
Gm128 A G 3: 95,147,992 (GRCm39) S101P possibly damaging Het
Gphn T C 12: 78,539,074 (GRCm39) L240P probably benign Het
Hecw2 A G 1: 53,965,647 (GRCm39) I393T probably benign Het
Iigp1c T C 18: 60,378,710 (GRCm39) S82P probably damaging Het
Kat14 A G 2: 144,235,751 (GRCm39) E161G probably benign Het
Kcne3 A C 7: 99,833,610 (GRCm39) I76L probably benign Het
Kcnk18 A T 19: 59,223,614 (GRCm39) Q253L probably benign Het
Kmt2a T C 9: 44,741,806 (GRCm39) probably benign Het
Lrrc73 A G 17: 46,567,915 (GRCm39) probably benign Het
Mki67 A G 7: 135,296,056 (GRCm39) S2993P possibly damaging Het
Mto1 T A 9: 78,368,794 (GRCm39) probably benign Het
Myo9a T A 9: 59,722,669 (GRCm39) probably benign Het
Myt1 G A 2: 181,467,342 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,566,885 (GRCm39) T587A probably benign Het
Nemf T A 12: 69,368,903 (GRCm39) I771F probably damaging Het
Or10k2 T A 8: 84,267,812 (GRCm39) V13D possibly damaging Het
Or5k16 A G 16: 58,736,614 (GRCm39) L130P probably damaging Het
Or8c10 A T 9: 38,278,977 (GRCm39) Y45F probably benign Het
Papln T C 12: 83,827,445 (GRCm39) V761A probably benign Het
Pask A T 1: 93,248,817 (GRCm39) L861* probably null Het
Pcdh18 T A 3: 49,707,896 (GRCm39) R859S probably benign Het
Ppip5k1 C T 2: 121,162,034 (GRCm39) probably null Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rasgrp4 A T 7: 28,850,928 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,271 (GRCm39) I614V probably benign Het
Sec23ip T C 7: 128,378,640 (GRCm39) I818T probably damaging Het
Skint11 G A 4: 114,051,801 (GRCm39) A50T probably benign Het
Sqor T A 2: 122,650,007 (GRCm39) M417K possibly damaging Het
Tbc1d24 T C 17: 24,426,593 (GRCm39) probably null Het
Tbc1d8b A T X: 138,613,173 (GRCm39) D333V probably damaging Het
Tbx2 T C 11: 85,731,739 (GRCm39) S679P possibly damaging Het
Thbs2 A G 17: 14,904,328 (GRCm39) probably benign Het
Ttn T C 2: 76,689,795 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,493,568 (GRCm39) I126N probably damaging Het
Zbtb10 G T 3: 9,316,800 (GRCm39) G204V probably damaging Het
Zfp426 A C 9: 20,384,414 (GRCm39) probably benign Het
Other mutations in Cd209e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Cd209e APN 8 3,902,800 (GRCm39) missense probably benign 0.05
IGL00920:Cd209e APN 8 3,899,187 (GRCm39) missense probably damaging 1.00
IGL01132:Cd209e APN 8 3,901,274 (GRCm39) missense probably benign 0.18
R0124:Cd209e UTSW 8 3,901,274 (GRCm39) missense probably benign 0.08
R0268:Cd209e UTSW 8 3,899,125 (GRCm39) missense probably benign 0.34
R0540:Cd209e UTSW 8 3,901,265 (GRCm39) missense probably benign 0.04
R0744:Cd209e UTSW 8 3,903,205 (GRCm39) missense probably benign 0.00
R0836:Cd209e UTSW 8 3,903,205 (GRCm39) missense probably benign 0.00
R1241:Cd209e UTSW 8 3,899,124 (GRCm39) missense probably damaging 0.99
R1367:Cd209e UTSW 8 3,899,084 (GRCm39) makesense probably null
R2040:Cd209e UTSW 8 3,899,158 (GRCm39) missense probably damaging 1.00
R2136:Cd209e UTSW 8 3,903,248 (GRCm39) missense probably benign 0.00
R4787:Cd209e UTSW 8 3,901,181 (GRCm39) missense probably null 0.69
R6283:Cd209e UTSW 8 3,899,212 (GRCm39) nonsense probably null
R6338:Cd209e UTSW 8 3,899,154 (GRCm39) missense probably damaging 1.00
R6894:Cd209e UTSW 8 3,903,569 (GRCm39) missense possibly damaging 0.48
R8899:Cd209e UTSW 8 3,901,212 (GRCm39) nonsense probably null
R9594:Cd209e UTSW 8 3,901,183 (GRCm39) missense probably benign 0.00
Z1176:Cd209e UTSW 8 3,899,196 (GRCm39) missense probably benign 0.30
Z1177:Cd209e UTSW 8 3,901,181 (GRCm39) missense probably null 0.99
Posted On 2015-04-16