Incidental Mutation 'IGL01823:Cd209a'
ID154610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209a
Ensembl Gene ENSMUSG00000031494
Gene NameCD209a antigen
SynonymsCIRE, DC-SIGN1, CD209, DC-SIGN, SIGNR5, Dcsign
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01823
Quality Score
Status
Chromosome8
Chromosomal Location3743397-3748984 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 3748851 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012847] [ENSMUST00000207979] [ENSMUST00000208960]
Predicted Effect probably benign
Transcript: ENSMUST00000012847
SMART Domains Protein: ENSMUSP00000012847
Gene: ENSMUSG00000031494

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 108 229 2.79e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207906
Predicted Effect probably benign
Transcript: ENSMUST00000207979
Predicted Effect probably benign
Transcript: ENSMUST00000208960
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 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
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp6 A G 13: 38,498,822 T460A probably damaging Het
Dock2 A G 11: 34,262,391 L1250P probably damaging Het
Evc T C 5: 37,328,521 N104D probably damaging Het
Fam161a A T 11: 23,015,785 E26V probably damaging Het
Foxa3 T C 7: 19,014,518 T228A probably benign Het
Gm8206 A T 14: 6,017,078 D133E probably benign Het
Ighv1-15 T A 12: 114,657,592 T38S probably benign Het
Ikzf1 A G 11: 11,769,091 D266G possibly damaging Het
Man2a1 T C 17: 64,666,824 I365T probably damaging Het
Mcm4 T C 16: 15,626,131 D756G probably damaging Het
Mroh9 G A 1: 163,055,609 L434F probably benign Het
Olfr1342 A G 4: 118,689,721 C244R probably damaging Het
Olfr297 T C 7: 86,527,041 C95R probably damaging Het
Phldb2 T A 16: 45,825,144 Y313F probably damaging Het
Psd4 A G 2: 24,394,432 S103G probably benign Het
Ripk4 T C 16: 97,755,283 I87V possibly damaging Het
Scn9a A T 2: 66,484,042 F1766L probably damaging Het
Slc10a5 A T 3: 10,334,514 V362D possibly damaging Het
Slc12a3 A G 8: 94,357,096 D917G probably benign Het
Slc30a4 A G 2: 122,702,092 V110A probably damaging Het
Slc30a8 A G 15: 52,295,962 probably benign Het
Slc5a8 T A 10: 88,919,472 C480* probably null Het
Tmppe A G 9: 114,405,107 K158R probably benign Het
Tubb6 A G 18: 67,402,273 N414S probably damaging Het
Wnt8a A T 18: 34,544,793 T85S possibly damaging Het
Other mutations in Cd209a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Cd209a APN 8 3745576 missense probably damaging 1.00
R0306:Cd209a UTSW 8 3745535 missense probably benign
R0696:Cd209a UTSW 8 3748384 missense possibly damaging 0.65
R1818:Cd209a UTSW 8 3745576 missense probably damaging 0.99
R4517:Cd209a UTSW 8 3745525 missense probably damaging 1.00
R4994:Cd209a UTSW 8 3747713 critical splice acceptor site probably null
R5913:Cd209a UTSW 8 3748742 missense probably benign 0.00
R6475:Cd209a UTSW 8 3747031 missense probably damaging 0.99
R7372:Cd209a UTSW 8 3748857 splice site probably null
R7557:Cd209a UTSW 8 3745541 missense probably benign 0.11
R7570:Cd209a UTSW 8 3744151 missense probably damaging 1.00
Z1088:Cd209a UTSW 8 3747017 missense probably damaging 1.00
Posted On2014-02-04