|Institutional Source||Beutler Lab|
|Gene Name||protease, serine 21|
|Synonyms||mT4, testisin, TESP5, 1700023E12Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.053)|
|Stock #||R7835 (G1)|
|Chromosomal Location||23868056-23873114 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 23869451 bp|
|Amino Acid Change||Glutamine to Leucine at position 130 (Q130L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024928 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024928]|
|Predicted Effect||possibly damaging
AA Change: Q130L
PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: Q130L
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for one knock-out allele impaires fertilization of epididymal sperm only in an in vitro experiment. Mice homozygous for another knock-out allele exhibit defective sperm maturation during passage through the epididymis and decreased spermfertilization capability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prss21||
(F):5'- ATGAACGTGAGGTAGTCGTCG -3'
(R):5'- TAATGTGAAAGGTTAGGGTAGTGCC -3'
(F):5'- TAGTCGTCGCCTCAGAGAGAG -3'
(R):5'- ACCCGTCTGTACCCAGC -3'