Incidental Mutation 'IGL02216:Cd209a'
ID 284883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209a
Ensembl Gene ENSMUSG00000031494
Gene Name CD209a antigen
Synonyms CIRE, DC-SIGN1, CD209, DC-SIGN, SIGNR5, Dcsign
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02216
Quality Score
Status
Chromosome 8
Chromosomal Location 3743397-3748984 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3745576 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 165 (T165N)
Ref Sequence ENSEMBL: ENSMUSP00000012847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012847] [ENSMUST00000207979] [ENSMUST00000208960]
AlphaFold Q91ZX1
Predicted Effect probably damaging
Transcript: ENSMUST00000012847
AA Change: T165N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000012847
Gene: ENSMUSG00000031494
AA Change: T165N

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
AA Change: T138N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208960
AA Change: T106N

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A T 18: 38,252,860 (GRCm38) I102F probably damaging Het
4930544D05Rik T C 11: 70,616,179 (GRCm38) F48L possibly damaging Het
5830473C10Rik T C 5: 90,579,579 (GRCm38) probably benign Het
Adamts12 A G 15: 11,241,485 (GRCm38) N381S possibly damaging Het
Akp3 A T 1: 87,127,650 (GRCm38) Q473L probably damaging Het
Ap5s1 T A 2: 131,212,967 (GRCm38) probably benign Het
Atp10b T A 11: 43,259,789 (GRCm38) L1438Q probably damaging Het
B3galt4 G A 17: 33,950,565 (GRCm38) P233L probably damaging Het
Brd8 C T 18: 34,602,727 (GRCm38) S899N probably damaging Het
Cc2d1a C A 8: 84,139,313 (GRCm38) E393* probably null Het
Chid1 T C 7: 141,496,593 (GRCm38) probably benign Het
Cln3 A T 7: 126,575,342 (GRCm38) probably null Het
Cped1 A T 6: 22,059,945 (GRCm38) R203S probably damaging Het
Dnttip2 G T 3: 122,276,261 (GRCm38) W375L probably benign Het
Dync1h1 T C 12: 110,663,002 (GRCm38) F4280S probably damaging Het
Ephb4 A G 5: 137,372,070 (GRCm38) D844G possibly damaging Het
Fhl2 T A 1: 43,131,719 (GRCm38) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm38) K458E probably benign Het
Grid2 G T 6: 64,345,666 (GRCm38) R550L probably damaging Het
Klhl1 T A 14: 96,123,222 (GRCm38) T731S probably benign Het
Kng1 T A 16: 23,058,533 (GRCm38) D30E probably damaging Het
Kyat1 A G 2: 30,187,252 (GRCm38) V158A probably benign Het
Mcm8 G T 2: 132,839,529 (GRCm38) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm38) H3638Y probably benign Het
Neb T G 2: 52,226,490 (GRCm38) T4158P probably benign Het
Neo1 T C 9: 58,917,053 (GRCm38) I697M probably damaging Het
Nfkb1 A T 3: 135,594,963 (GRCm38) V614D probably damaging Het
Olfr860 G A 9: 19,846,565 (GRCm38) S18L probably damaging Het
Otog T C 7: 46,301,468 (GRCm38) S2555P probably damaging Het
Pkd1l1 T A 11: 8,834,897 (GRCm38) R1962S probably damaging Het
Plxnb1 A G 9: 109,100,850 (GRCm38) Y258C probably damaging Het
Pramef8 T A 4: 143,417,728 (GRCm38) probably null Het
Prl3a1 A G 13: 27,270,144 (GRCm38) D35G probably benign Het
Rag1 A T 2: 101,643,381 (GRCm38) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,529,707 (GRCm38) probably benign Het
Rnf112 C T 11: 61,449,978 (GRCm38) V472M probably damaging Het
Rps18 A G 17: 33,952,041 (GRCm38) probably benign Het
Rptn T C 3: 93,395,773 (GRCm38) S138P possibly damaging Het
Sbpl A C 17: 23,953,716 (GRCm38) N76K probably benign Het
Sh3bp1 A T 15: 78,905,164 (GRCm38) M241L probably benign Het
Slc22a17 T C 14: 54,907,976 (GRCm38) *198W probably null Het
Smc3 C T 19: 53,621,844 (GRCm38) R221C probably damaging Het
Snai1 A G 2: 167,538,848 (GRCm38) E87G probably benign Het
Snx22 C A 9: 66,069,188 (GRCm38) A49S probably benign Het
Tas2r143 A T 6: 42,400,334 (GRCm38) R33* probably null Het
Try4 A G 6: 41,305,031 (GRCm38) I184V probably benign Het
Ttn A G 2: 76,791,725 (GRCm38) V15491A probably benign Het
Ttn T A 2: 76,754,552 (GRCm38) K20355* probably null Het
Vmn1r170 A G 7: 23,606,490 (GRCm38) T106A probably damaging Het
Vmn2r59 A T 7: 42,012,393 (GRCm38) V666E probably damaging Het
Vsx1 T C 2: 150,684,575 (GRCm38) N221S possibly damaging Het
Zcchc6 T C 13: 59,800,423 (GRCm38) T293A probably benign Het
Zfp846 A G 9: 20,588,609 (GRCm38) E45G probably damaging Het
Other mutations in Cd209a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Cd209a APN 8 3,748,851 (GRCm38) splice site probably benign
R0306:Cd209a UTSW 8 3,745,535 (GRCm38) missense probably benign
R0696:Cd209a UTSW 8 3,748,384 (GRCm38) missense possibly damaging 0.65
R1818:Cd209a UTSW 8 3,745,576 (GRCm38) missense probably damaging 0.99
R4517:Cd209a UTSW 8 3,745,525 (GRCm38) missense probably damaging 1.00
R4994:Cd209a UTSW 8 3,747,713 (GRCm38) critical splice acceptor site probably null
R5913:Cd209a UTSW 8 3,748,742 (GRCm38) missense probably benign 0.00
R6475:Cd209a UTSW 8 3,747,031 (GRCm38) missense probably damaging 0.99
R7372:Cd209a UTSW 8 3,748,857 (GRCm38) splice site probably null
R7557:Cd209a UTSW 8 3,745,541 (GRCm38) missense probably benign 0.11
R7570:Cd209a UTSW 8 3,744,151 (GRCm38) missense probably damaging 1.00
R8898:Cd209a UTSW 8 3,748,739 (GRCm38) missense probably damaging 1.00
R9165:Cd209a UTSW 8 3,745,602 (GRCm38) missense probably damaging 1.00
Z1088:Cd209a UTSW 8 3,747,017 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16