|Institutional Source||Beutler Lab|
|Gene Name||CD207 antigen|
|Is this an essential gene?||Probably non essential (E-score: 0.052)|
|Stock #||R5024 (G1)|
|Chromosomal Location||83671215-83677857 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 83674319 bp|
|Amino Acid Change||Threonine to Isoleucine at position 218 (T218I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040746 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037882]|
|Predicted Effect||probably damaging
AA Change: T218I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T218I
|Meta Mutation Damage Score||0.132|
|Coding Region Coverage||
|Validation Efficiency||99% (95/96)|
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||
|Other mutations in Cd207||
(F):5'- CATTGGATATCCTCCTGTGGCC -3'
(R):5'- TTGTCCCCAGGATCCCATTG -3'
(F):5'- GGCCTCCACATATGCACTG -3'
(R):5'- GGATCCCATTGAACACCCCATC -3'