Incidental Mutation 'IGL03309:Cd207'
ID 416494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd207
Ensembl Gene ENSMUSG00000034783
Gene Name CD207 antigen
Synonyms Langerin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL03309
Quality Score
Status
Chromosome 6
Chromosomal Location 83648197-83654839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83654735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 16 (T16K)
Ref Sequence ENSEMBL: ENSMUSP00000040746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037882]
AlphaFold Q8VBX4
Predicted Effect possibly damaging
Transcript: ENSMUST00000037882
AA Change: T16K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040746
Gene: ENSMUSG00000034783
AA Change: T16K

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
CLECT 198 323 9.42e-30 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]
PHENOTYPE: Nullizygous mice lack Birbeck granules with no marked loss of Langerhans cell (LC) function. Knock-in mice expressing diphtheria toxin (DT) receptors show LC depletion. Heterozygotes for a knock-in allele show DT-induced LC ablation, altered contact hypersensitivity and susceptibility to infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,303 (GRCm39) T334A possibly damaging Het
Armc9 A G 1: 86,202,155 (GRCm39) E771G possibly damaging Het
Cd44 C T 2: 102,644,522 (GRCm39) E421K probably damaging Het
Cfap221 A G 1: 119,862,331 (GRCm39) Y584H probably damaging Het
Clock A G 5: 76,379,241 (GRCm39) probably null Het
Clpx T G 9: 65,229,974 (GRCm39) L474R probably damaging Het
Cntd1 T C 11: 101,175,590 (GRCm39) V143A probably damaging Het
Cttnbp2 A G 6: 18,381,035 (GRCm39) V877A probably damaging Het
Dlx6 G T 6: 6,867,289 (GRCm39) M158I possibly damaging Het
Fank1 A G 7: 133,463,902 (GRCm39) T33A probably damaging Het
Fbf1 A G 11: 116,038,637 (GRCm39) L828P probably damaging Het
Fh1 A T 1: 175,431,609 (GRCm39) S426T probably benign Het
Gabrg3 G T 7: 56,632,433 (GRCm39) Q172K probably damaging Het
Glipr1l1 A G 10: 111,908,141 (GRCm39) probably benign Het
Hypk T A 2: 121,288,673 (GRCm39) L113* probably null Het
Hypk G T 2: 121,288,674 (GRCm39) L113F probably damaging Het
Ipo5 G A 14: 121,157,416 (GRCm39) V85I probably benign Het
Kif1a A T 1: 92,986,579 (GRCm39) Y575* probably null Het
Morf4l1 T A 9: 89,985,798 (GRCm39) E60V probably benign Het
Or52ac1 A G 7: 104,246,248 (GRCm39) F47L probably benign Het
Or6c6 A T 10: 129,187,178 (GRCm39) T249S probably benign Het
Parp4 A T 14: 56,825,265 (GRCm39) T130S probably benign Het
Prkd1 A G 12: 50,435,207 (GRCm39) Y507H probably damaging Het
Psme2b A C 11: 48,836,626 (GRCm39) probably null Het
Rbm44 T C 1: 91,096,562 (GRCm39) probably null Het
Rngtt C A 4: 33,339,091 (GRCm39) R299S probably damaging Het
Ros1 A G 10: 51,994,357 (GRCm39) S1308P possibly damaging Het
Rpl3l A G 17: 24,954,998 (GRCm39) K398E possibly damaging Het
Scube3 C T 17: 28,383,331 (GRCm39) R374* probably null Het
Srcap A G 7: 127,129,965 (GRCm39) T616A probably damaging Het
Stk3 G A 15: 35,099,697 (GRCm39) probably benign Het
Tas2r124 A T 6: 132,731,898 (GRCm39) D69V probably benign Het
Zbtb41 T A 1: 139,359,816 (GRCm39) probably null Het
Other mutations in Cd207
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Cd207 APN 6 83,652,908 (GRCm39) missense possibly damaging 0.95
IGL01101:Cd207 APN 6 83,652,839 (GRCm39) missense probably benign 0.25
IGL02504:Cd207 APN 6 83,654,788 (GRCm39) utr 5 prime probably benign
R0004:Cd207 UTSW 6 83,651,230 (GRCm39) nonsense probably null
R0646:Cd207 UTSW 6 83,652,738 (GRCm39) missense probably benign 0.00
R1709:Cd207 UTSW 6 83,649,818 (GRCm39) missense possibly damaging 0.92
R1756:Cd207 UTSW 6 83,652,579 (GRCm39) missense probably benign
R1867:Cd207 UTSW 6 83,652,635 (GRCm39) missense probably damaging 0.99
R1868:Cd207 UTSW 6 83,648,683 (GRCm39) nonsense probably null
R1955:Cd207 UTSW 6 83,648,757 (GRCm39) missense probably benign 0.42
R5005:Cd207 UTSW 6 83,651,367 (GRCm39) missense possibly damaging 0.95
R5024:Cd207 UTSW 6 83,651,301 (GRCm39) missense probably damaging 1.00
R6430:Cd207 UTSW 6 83,652,869 (GRCm39) missense probably benign 0.06
R7401:Cd207 UTSW 6 83,654,830 (GRCm39) start gained probably benign
R8995:Cd207 UTSW 6 83,652,891 (GRCm39) missense probably damaging 1.00
R9314:Cd207 UTSW 6 83,652,699 (GRCm39) missense probably damaging 0.98
R9366:Cd207 UTSW 6 83,648,779 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02