Incidental Mutation 'R0540:Cd209e'
ID 49826
Institutional Source Beutler Lab
Gene Symbol Cd209e
Ensembl Gene ENSMUSG00000040197
Gene Name CD209e antigen
Synonyms mSIGNR4, SIGNR4
MMRRC Submission 038732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R0540 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 3847965-3854309 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3851265 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 130 (K130E)
Ref Sequence ENSEMBL: ENSMUSP00000033888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033888]
AlphaFold Q91ZW7
Predicted Effect probably benign
Transcript: ENSMUST00000033888
AA Change: K130E

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: K130E

transmembrane domain 15 37 N/A INTRINSIC
CLECT 77 198 4.01e-33 SMART
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.7%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 60,019,206 (GRCm38) T199A possibly damaging Het
Als2cl C A 9: 110,895,784 (GRCm38) Y775* probably null Het
Ankhd1 G T 18: 36,640,280 (GRCm38) V59F probably damaging Het
Ano4 T A 10: 89,023,944 (GRCm38) I395F probably benign Het
Apcdd1 A G 18: 62,951,896 (GRCm38) N388S possibly damaging Het
Arl9 A G 5: 77,007,271 (GRCm38) Y83C possibly damaging Het
Armc2 T A 10: 41,922,695 (GRCm38) H706L probably benign Het
Arrb1 T C 7: 99,588,196 (GRCm38) probably null Het
Atxn1 G A 13: 45,557,530 (GRCm38) S642L probably damaging Het
Bmp8a A G 4: 123,315,930 (GRCm38) Y322H probably damaging Het
Btbd3 C T 2: 138,283,816 (GRCm38) R307W possibly damaging Het
C1galt1 T C 6: 7,871,193 (GRCm38) I343T probably benign Het
Capn2 A T 1: 182,492,184 (GRCm38) Y146* probably null Het
Ccdc42 C T 11: 68,597,710 (GRCm38) Q312* probably null Het
Chd3 T C 11: 69,344,358 (GRCm38) D2054G probably damaging Het
Chrna1 T C 2: 73,571,471 (GRCm38) N161S probably damaging Het
Clp1 C T 2: 84,725,591 (GRCm38) A182T possibly damaging Het
Cpsf7 G T 19: 10,533,318 (GRCm38) E135* probably null Het
Csf2rb2 T C 15: 78,287,908 (GRCm38) Y325C probably benign Het
Cspg5 T C 9: 110,247,392 (GRCm38) probably null Het
Ctnna2 T C 6: 76,902,430 (GRCm38) T824A probably benign Het
Cyp2b13 G A 7: 26,081,711 (GRCm38) V183I probably benign Het
D430041D05Rik C T 2: 104,233,445 (GRCm38) R1354H probably damaging Het
Ddx24 A G 12: 103,419,067 (GRCm38) Y426H possibly damaging Het
Dexi G T 16: 10,542,562 (GRCm38) Y43* probably null Het
Dlg1 G A 16: 31,838,174 (GRCm38) V596I possibly damaging Het
Dnah11 A C 12: 118,082,511 (GRCm38) W1731G probably damaging Het
Dnhd1 T A 7: 105,720,788 (GRCm38) N4473K probably benign Het
Dync2h1 A C 9: 7,051,480 (GRCm38) S3152A probably benign Het
Edn3 C A 2: 174,760,974 (GRCm38) P3Q probably damaging Het
Eif2a G A 3: 58,555,652 (GRCm38) probably null Het
Emb G A 13: 117,232,750 (GRCm38) V56I possibly damaging Het
Enpp4 A T 17: 44,099,495 (GRCm38) C397S probably damaging Het
Exo5 A G 4: 120,921,981 (GRCm38) V229A probably damaging Het
Fga G A 3: 83,028,562 (GRCm38) G32E probably damaging Het
Fkbpl T C 17: 34,645,359 (GRCm38) F34L probably benign Het
Fsd2 T A 7: 81,545,017 (GRCm38) D466V probably damaging Het
Gcn1 T C 5: 115,588,956 (GRCm38) V624A probably benign Het
Git2 A G 5: 114,748,274 (GRCm38) F336L probably damaging Het
Greb1 T A 12: 16,682,193 (GRCm38) Y1589F probably damaging Het
H2-K2 G T 17: 33,999,500 (GRCm38) D127E probably damaging Het
Ints8 A G 4: 11,252,926 (GRCm38) V52A possibly damaging Het
Kifc1 G A 17: 33,886,647 (GRCm38) T62I probably damaging Het
Klhl6 C A 16: 19,957,014 (GRCm38) D265Y possibly damaging Het
Kmt5a T A 5: 124,451,310 (GRCm38) N190K probably damaging Het
Lce6a A T 3: 92,620,328 (GRCm38) H57Q probably benign Het
Lipo3 A T 19: 33,559,567 (GRCm38) I251K possibly damaging Het
Lnpep A T 17: 17,538,554 (GRCm38) F843I probably damaging Het
Lrrc45 C T 11: 120,715,162 (GRCm38) R99* probably null Het
Lrrtm1 C A 6: 77,244,628 (GRCm38) A356E probably damaging Het
Map3k1 A C 13: 111,763,510 (GRCm38) H493Q probably benign Het
Mcm4 A T 16: 15,632,115 (GRCm38) probably null Het
Mllt3 G A 4: 87,841,044 (GRCm38) P256S possibly damaging Het
Mrtfb A G 16: 13,381,601 (GRCm38) E106G probably damaging Het
Myo7a T A 7: 98,071,946 (GRCm38) T1271S probably damaging Het
Ncan C A 8: 70,115,159 (GRCm38) R101L possibly damaging Het
Ndufaf7 A G 17: 78,946,456 (GRCm38) D361G probably benign Het
Neurod6 C T 6: 55,679,587 (GRCm38) A22T probably benign Het
Nexn T A 3: 152,248,242 (GRCm38) K192* probably null Het
Nipsnap2 A T 5: 129,754,845 (GRCm38) Y234F probably damaging Het
Nlrp10 T C 7: 108,924,285 (GRCm38) K663E probably benign Het
Nprl2 A T 9: 107,545,298 (GRCm38) Y329F possibly damaging Het
Nr2f2 C A 7: 70,354,712 (GRCm38) R264L probably damaging Het
Nsun7 A T 5: 66,283,634 (GRCm38) K366I probably damaging Het
Nup35 T A 2: 80,642,640 (GRCm38) M19K probably benign Het
Or10a4 T A 7: 107,097,726 (GRCm38) I87K probably benign Het
Or11i1 A T 3: 106,822,513 (GRCm38) F15L probably damaging Het
Or1ad6 C A 11: 50,969,843 (GRCm38) A275D possibly damaging Het
Or2v1 C G 11: 49,134,722 (GRCm38) H177D probably damaging Het
Or2w2 T A 13: 21,573,778 (GRCm38) Y226F probably benign Het
Or5af1 T A 11: 58,831,972 (GRCm38) S273T probably damaging Het
Or5p51 A G 7: 107,845,569 (GRCm38) S55P probably damaging Het
Patl2 T C 2: 122,126,669 (GRCm38) Y128C probably benign Het
Pcdhac2 A G 18: 37,145,889 (GRCm38) I641V probably benign Het
Peli3 T C 19: 4,941,911 (GRCm38) M1V probably null Het
Pex16 T A 2: 92,375,637 (GRCm38) L25* probably null Het
Plekhn1 C A 4: 156,222,747 (GRCm38) A449S possibly damaging Het
Pot1b A T 17: 55,665,765 (GRCm38) I469N probably damaging Het
Prdx6 A C 1: 161,251,103 (GRCm38) L5W probably damaging Het
Prrc1 G A 18: 57,374,550 (GRCm38) V259I possibly damaging Het
Prss38 T C 11: 59,375,543 (GRCm38) S30G possibly damaging Het
Rgs6 C A 12: 83,059,804 (GRCm38) Y151* probably null Het
Ripk4 A C 16: 97,744,175 (GRCm38) L361R probably damaging Het
Serpinb3d C T 1: 107,079,232 (GRCm38) D249N probably benign Het
Skint10 A T 4: 112,773,027 (GRCm38) probably null Het
Smg7 A T 1: 152,855,962 (GRCm38) N349K probably benign Het
Sohlh2 C A 3: 55,207,683 (GRCm38) S363Y probably damaging Het
Srsf10 A G 4: 135,863,868 (GRCm38) T210A possibly damaging Het
Synpo2l A T 14: 20,660,680 (GRCm38) M624K probably damaging Het
Thsd7a T A 6: 12,331,542 (GRCm38) probably null Het
Tnc A T 4: 64,020,455 (GRCm38) V49E probably damaging Het
Tnik A C 3: 28,650,159 (GRCm38) K989T probably damaging Het
Tnxb T A 17: 34,671,918 (GRCm38) Y412N probably damaging Het
Trmt44 A G 5: 35,568,759 (GRCm38) probably null Het
Tsc2 A T 17: 24,621,712 (GRCm38) V391E probably damaging Het
Ttll5 T C 12: 85,933,676 (GRCm38) probably null Het
Usp28 A G 9: 49,024,060 (GRCm38) I104V probably benign Het
Vmn1r64 A G 7: 5,884,097 (GRCm38) L149S probably damaging Het
Yme1l1 T A 2: 23,192,515 (GRCm38) M506K possibly damaging Het
Zfp280d T A 9: 72,307,965 (GRCm38) F98I probably damaging Het
Zfp62 C A 11: 49,215,400 (GRCm38) T106K probably benign Het
Other mutations in Cd209e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Cd209e APN 8 3,852,800 (GRCm38) missense probably benign 0.05
IGL00920:Cd209e APN 8 3,849,187 (GRCm38) missense probably damaging 1.00
IGL01132:Cd209e APN 8 3,851,274 (GRCm38) missense probably benign 0.18
IGL02499:Cd209e APN 8 3,854,238 (GRCm38) missense probably benign
R0124:Cd209e UTSW 8 3,851,274 (GRCm38) missense probably benign 0.08
R0268:Cd209e UTSW 8 3,849,125 (GRCm38) missense probably benign 0.34
R0744:Cd209e UTSW 8 3,853,205 (GRCm38) missense probably benign 0.00
R0836:Cd209e UTSW 8 3,853,205 (GRCm38) missense probably benign 0.00
R1241:Cd209e UTSW 8 3,849,124 (GRCm38) missense probably damaging 0.99
R1367:Cd209e UTSW 8 3,849,084 (GRCm38) makesense probably null
R2040:Cd209e UTSW 8 3,849,158 (GRCm38) missense probably damaging 1.00
R2136:Cd209e UTSW 8 3,853,248 (GRCm38) missense probably benign 0.00
R4787:Cd209e UTSW 8 3,851,181 (GRCm38) missense probably null 0.69
R6283:Cd209e UTSW 8 3,849,212 (GRCm38) nonsense probably null
R6338:Cd209e UTSW 8 3,849,154 (GRCm38) missense probably damaging 1.00
R6894:Cd209e UTSW 8 3,853,569 (GRCm38) missense possibly damaging 0.48
R8899:Cd209e UTSW 8 3,851,212 (GRCm38) nonsense probably null
R9594:Cd209e UTSW 8 3,851,183 (GRCm38) missense probably benign 0.00
Z1176:Cd209e UTSW 8 3,849,196 (GRCm38) missense probably benign 0.30
Z1177:Cd209e UTSW 8 3,851,181 (GRCm38) missense probably null 0.99
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- tgctgagggatggaaagaaac -3'
Posted On 2013-06-12