|Institutional Source||Beutler Lab|
|Gene Name||CD83 antigen|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2449 (G1)|
|Chromosomal Location||43784775-43803132 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 43797656 bp|
|Amino Acid Change||Threonine to Serine at position 95 (T95S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015540 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015540]|
|Predicted Effect||probably damaging
AA Change: T95S
PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: T95S
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice lacking this gene develop, thrive, and reproduce normally, but exhibit defects in T cell development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd83||
(F):5'- TTGTAAAGCCCTCACGCCAG -3'
(R):5'- AATGTTGGGCAAAAGTCAGTGC -3'
(F):5'- ACGCCAGTCTGTCAGTAATTG -3'
(R):5'- GGAATTCATTTCCGGCCACAGATG -3'