|Institutional Source||Beutler Lab|
|Gene Name||transmembrane protease, serine 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1055 (G1)|
|Chromosomal Location||97564682-97611195 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 97576262 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 212 (N212D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000395 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000395] [ENSMUST00000231544]|
|Predicted Effect||probably damaging
AA Change: N212D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N212D
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1917|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmprss2||
(F):5'- TGTGAAACACTGCTTACCTCCACC -3'
(R):5'- GCTGATGGGAGACTCTAACCTTGC -3'
(F):5'- TGCTTACCTCCACCCAAAACAG -3'
(R):5'- TGGACAATGGTTTTCAGACAGC -3'