Incidental Mutation 'IGL02675:Prss57'
ID 303094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss57
Ensembl Gene ENSMUSG00000020323
Gene Name serine protease 57
Synonyms GLGL782, 2900092M14Rik, UNQ782, Prssl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02675
Quality Score
Status
Chromosome 10
Chromosomal Location 79617308-79626795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79623309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 46 (V46A)
Ref Sequence ENSEMBL: ENSMUSP00000132215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020573] [ENSMUST00000020575] [ENSMUST00000169684]
AlphaFold Q14B24
Predicted Effect probably benign
Transcript: ENSMUST00000020573
AA Change: V46A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020573
Gene: ENSMUSG00000020323
AA Change: V46A

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Tryp_SPc 39 264 1.53e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020575
SMART Domains Protein: ENSMUSP00000020575
Gene: ENSMUSG00000020325

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FOLN 96 118 4.13e-6 SMART
KAZAL 116 165 1.69e-11 SMART
FOLN 168 191 1.09e-5 SMART
KAZAL 197 241 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167987
SMART Domains Protein: ENSMUSP00000130448
Gene: ENSMUSG00000020323

DomainStartEndE-ValueType
Pfam:Trypsin 1 75 1.4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168798
Predicted Effect probably benign
Transcript: ENSMUST00000169684
AA Change: V46A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132215
Gene: ENSMUSG00000020323
AA Change: V46A

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Tryp_SPc 39 264 1.53e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171681
SMART Domains Protein: ENSMUSP00000131642
Gene: ENSMUSG00000020323

DomainStartEndE-ValueType
Tryp_SPc 1 87 3.16e-1 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 encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,936,184 (GRCm39) I204T probably damaging Het
Anxa8 A G 14: 33,815,371 (GRCm39) D150G probably damaging Het
Arel1 T C 12: 84,977,002 (GRCm39) T438A probably damaging Het
Asphd1 T C 7: 126,546,006 (GRCm39) probably benign Het
Bcl2l12 A T 7: 44,640,824 (GRCm39) probably benign Het
Cand1 A G 10: 119,055,602 (GRCm39) I87T probably damaging Het
Ccdc80 A C 16: 44,936,695 (GRCm39) T707P probably damaging Het
Ccn6 A G 10: 39,027,236 (GRCm39) V332A possibly damaging Het
Cdh9 T A 15: 16,849,162 (GRCm39) probably null Het
Chrd T C 16: 20,558,699 (GRCm39) probably benign Het
Cpn1 T C 19: 43,969,369 (GRCm39) Q98R probably benign Het
D630045J12Rik A G 6: 38,172,420 (GRCm39) S583P possibly damaging Het
Dnah7a A G 1: 53,543,183 (GRCm39) I2329T possibly damaging Het
Egln3 A G 12: 54,249,996 (GRCm39) S118P probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Hapln3 C T 7: 78,767,596 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,185 (GRCm39) F180L possibly damaging Het
Herc2 T A 7: 55,813,849 (GRCm39) S2661T probably damaging Het
Hook3 A T 8: 26,551,462 (GRCm39) L126Q possibly damaging Het
Hoxd8 T G 2: 74,536,930 (GRCm39) L214R probably damaging Het
Ifna1 T G 4: 88,768,670 (GRCm39) L116R probably damaging Het
Il31ra T A 13: 112,660,886 (GRCm39) T487S probably benign Het
Kifc2 C T 15: 76,547,179 (GRCm39) R252W probably damaging Het
Meox2 A G 12: 37,228,333 (GRCm39) D290G probably damaging Het
Micu2 A G 14: 58,182,834 (GRCm39) probably benign Het
Myh9 T C 15: 77,673,130 (GRCm39) T406A possibly damaging Het
Naip1 T A 13: 100,545,626 (GRCm39) M1301L probably benign Het
Pbrm1 T C 14: 30,828,244 (GRCm39) L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,261,323 (GRCm39) A194E probably benign Het
Pdcd10 G A 3: 75,434,901 (GRCm39) T130I probably damaging Het
Pprc1 G A 19: 46,051,946 (GRCm39) G491D probably damaging Het
Ptcd3 A G 6: 71,860,426 (GRCm39) probably null Het
Riok1 C T 13: 38,234,219 (GRCm39) P262S probably damaging Het
Rnf13 A G 3: 57,686,817 (GRCm39) N70S probably benign Het
Skint7 T A 4: 111,839,178 (GRCm39) D157E probably benign Het
Sri T C 5: 8,117,534 (GRCm39) F191S probably damaging Het
Stat5b T C 11: 100,678,200 (GRCm39) R638G probably benign Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Tmem19 A G 10: 115,178,478 (GRCm39) L281P probably damaging Het
Tmf1 A G 6: 97,141,003 (GRCm39) probably benign Het
Trio A G 15: 27,768,125 (GRCm39) probably benign Het
Usp28 T C 9: 48,950,391 (GRCm39) I940T possibly damaging Het
Zfp280d T A 9: 72,219,504 (GRCm39) I227K probably benign Het
Zfp335 A G 2: 164,752,609 (GRCm39) V45A probably benign Het
Other mutations in Prss57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Prss57 APN 10 79,621,581 (GRCm39) unclassified probably benign
R0882:Prss57 UTSW 10 79,621,699 (GRCm39) missense probably damaging 1.00
R1777:Prss57 UTSW 10 79,623,219 (GRCm39) missense possibly damaging 0.91
R2257:Prss57 UTSW 10 79,623,204 (GRCm39) missense probably damaging 1.00
R5055:Prss57 UTSW 10 79,620,178 (GRCm39) critical splice donor site probably null
R7567:Prss57 UTSW 10 79,623,234 (GRCm39) missense probably benign 0.02
R7846:Prss57 UTSW 10 79,623,213 (GRCm39) missense probably damaging 0.98
R7972:Prss57 UTSW 10 79,619,230 (GRCm39) missense probably benign 0.16
Posted On 2015-04-16