|Institutional Source||Beutler Lab|
|Gene Name||protease, serine 16 (thymus)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Chromosomal Location||22002173-22009742 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 22008664 bp|
|Amino Acid Change||Asparagine to Lysine at position 83 (N83K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006341 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006341] [ENSMUST00000150547]|
|Predicted Effect||probably damaging
AA Change: N83K
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: N83K
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable with no gross abnormalities and normal T cell development and activation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prss16||
(F):5'- TTCTAGGCTTATCACCAGGGCC -3'
(R):5'- TTCCAGGGCCTCTAATGTCTAC -3'
(F):5'- CCTGTGGAGAGCGCATGGTAG -3'
(R):5'- AGGGCCTCTAATGTCTACCTTTATAG -3'