Incidental Mutation 'IGL01920:Prss2'
ID180081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss2
Ensembl Gene ENSMUSG00000057163
Gene Nameprotease, serine 2
SynonymsTRYP, Tesp4, Ta, TRY8, Try2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01920
Quality Score
Status
Chromosome6
Chromosomal Location41521787-41525079 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41524543 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 182 (N182S)
Ref Sequence ENSEMBL: ENSMUSP00000065393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070380]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070380
AA Change: N182S

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065393
Gene: ENSMUSG00000057163
AA Change: N182S

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Tryp_SPc 23 239 5.29e-106 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars C T 8: 111,043,246 R326W probably damaging Het
Acad11 T C 9: 104,063,905 probably null Het
Acat2 A G 17: 12,944,025 I312T probably benign Het
Adgrl3 T C 5: 81,465,296 V192A probably damaging Het
Akap1 T C 11: 88,839,633 H643R probably damaging Het
Akap7 A T 10: 25,289,603 C85* probably null Het
Ankrd11 T C 8: 122,915,897 probably benign Het
Ano1 G A 7: 144,611,454 probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Csnk1g2 T C 10: 80,638,428 L161P probably damaging Het
Dvl2 A G 11: 70,008,047 H420R probably benign Het
Fam135b G T 15: 71,622,036 H15N possibly damaging Het
Foxj1 G T 11: 116,331,920 H352Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Hectd1 T C 12: 51,782,554 I969M probably damaging Het
Kcnh3 C A 15: 99,233,377 P544T probably benign Het
Olfr855 A C 9: 19,585,022 M162L probably benign Het
Pcnt A G 10: 76,404,528 L1224P probably damaging Het
Sgsm1 A T 5: 113,273,605 W594R probably damaging Het
Slc38a1 C T 15: 96,586,897 A261T probably benign Het
Vcan C T 13: 89,689,205 G2740E probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 G A 17: 35,024,603 V729I probably benign Het
Other mutations in Prss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2009:Prss2 UTSW 6 41523976 missense probably damaging 0.97
R4471:Prss2 UTSW 6 41522846 missense probably damaging 0.97
R5728:Prss2 UTSW 6 41523917 missense probably benign 0.29
R6193:Prss2 UTSW 6 41521820 missense unknown
R6243:Prss2 UTSW 6 41524453 missense probably benign 0.00
R7793:Prss2 UTSW 6 41524952 missense possibly damaging 0.56
R8463:Prss2 UTSW 6 41521805 start codon destroyed probably null
Z1177:Prss2 UTSW 6 41523880 missense possibly damaging 0.86
Posted On2014-05-07