Incidental Mutation 'R4517:Cd209a'
ID 332954
Institutional Source Beutler Lab
Gene Symbol Cd209a
Ensembl Gene ENSMUSG00000031494
Gene Name CD209a antigen
Synonyms CIRE, Dcsign, DC-SIGN, SIGNR5, CD209, DC-SIGN1
MMRRC Submission 041761-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4517 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 3793397-3798984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3795525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 123 (D123V)
Ref Sequence ENSEMBL: ENSMUSP00000146627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012847] [ENSMUST00000207979] [ENSMUST00000208960]
AlphaFold Q91ZX1
Predicted Effect probably damaging
Transcript: ENSMUST00000012847
AA Change: D182V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012847
Gene: ENSMUSG00000031494
AA Change: D182V

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 damaging
Transcript: ENSMUST00000207979
AA Change: D155V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208960
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9111 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 95% (39/41)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank A G 15: 27,562,835 (GRCm39) H181R possibly damaging Het
B4galnt4 A G 7: 140,647,635 (GRCm39) K408E probably damaging Het
Cyp4f37 A G 17: 32,850,566 (GRCm39) I340V probably benign Het
Echs1 A G 7: 139,692,409 (GRCm39) S113P possibly damaging Het
Fap T C 2: 62,361,059 (GRCm39) I391V probably benign Het
Glb1l C T 1: 75,185,347 (GRCm39) C121Y probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Ibsp C A 5: 104,453,863 (GRCm39) S67* probably null Het
Ifit1bl2 C T 19: 34,607,164 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,800,569 (GRCm39) probably null Het
Kcnma1 A G 14: 23,387,097 (GRCm39) S982P probably damaging Het
Kif5b T C 18: 6,213,272 (GRCm39) S707G probably benign Het
Lrrk2 A G 15: 91,589,323 (GRCm39) I437V probably benign Het
Mapkbp1 T C 2: 119,855,545 (GRCm39) probably benign Het
Mcu T C 10: 59,303,456 (GRCm39) Y127C probably damaging Het
Mlst8 T C 17: 24,695,031 (GRCm39) Y284C probably damaging Het
Nr2f2 T G 7: 70,007,870 (GRCm39) N204T probably benign Het
Or13a26 A G 7: 140,285,004 (GRCm39) Y280C probably damaging Het
Or7a42 T A 10: 78,791,877 (GRCm39) Y279* probably null Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcf11 T C 7: 92,295,696 (GRCm39) Y1451C probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Rttn T C 18: 89,047,097 (GRCm39) S920P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Tas2r135 A T 6: 42,383,013 (GRCm39) H184L probably benign Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r102 A G 17: 19,901,475 (GRCm39) Y534C probably damaging Het
Wdr62 A G 7: 29,969,683 (GRCm39) V259A probably damaging Het
Whrn A G 4: 63,379,517 (GRCm39) probably null Het
Other mutations in Cd209a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Cd209a APN 8 3,798,851 (GRCm39) splice site probably benign
IGL02216:Cd209a APN 8 3,795,576 (GRCm39) missense probably damaging 1.00
R0306:Cd209a UTSW 8 3,795,535 (GRCm39) missense probably benign
R0696:Cd209a UTSW 8 3,798,384 (GRCm39) missense possibly damaging 0.65
R1818:Cd209a UTSW 8 3,795,576 (GRCm39) missense probably damaging 0.99
R4994:Cd209a UTSW 8 3,797,713 (GRCm39) critical splice acceptor site probably null
R5913:Cd209a UTSW 8 3,798,742 (GRCm39) missense probably benign 0.00
R6475:Cd209a UTSW 8 3,797,031 (GRCm39) missense probably damaging 0.99
R7372:Cd209a UTSW 8 3,798,857 (GRCm39) splice site probably null
R7557:Cd209a UTSW 8 3,795,541 (GRCm39) missense probably benign 0.11
R7570:Cd209a UTSW 8 3,794,151 (GRCm39) missense probably damaging 1.00
R8898:Cd209a UTSW 8 3,798,739 (GRCm39) missense probably damaging 1.00
R9165:Cd209a UTSW 8 3,795,602 (GRCm39) missense probably damaging 1.00
Z1088:Cd209a UTSW 8 3,797,017 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGATCTCAGGCACCTATCTGC -3'
(R):5'- AGACCCAGAACTCATGGTATTC -3'

Sequencing Primer
(F):5'- ACCTATCTGCCATTCTATCTGGAC -3'
(R):5'- CATCAAATTATAGGTGGAACTTCCC -3'
Posted On 2015-08-18