Incidental Mutation 'R0882:Prss57'
ID 80657
Institutional Source Beutler Lab
Gene Symbol Prss57
Ensembl Gene ENSMUSG00000020323
Gene Name serine protease 57
Synonyms GLGL782, 2900092M14Rik, UNQ782, Prssl1
MMRRC Submission 039049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0882 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79617308-79626795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79621699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 97 (H97Y)
Ref Sequence ENSEMBL: ENSMUSP00000132215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020573] [ENSMUST00000020575] [ENSMUST00000169684]
AlphaFold Q14B24
Predicted Effect probably damaging
Transcript: ENSMUST00000020573
AA Change: H97Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020573
Gene: ENSMUSG00000020323
AA Change: H97Y

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 damaging
Transcript: ENSMUST00000169684
AA Change: H97Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132215
Gene: ENSMUSG00000020323
AA Change: H97Y

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
Meta Mutation Damage Score 0.5247 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Adh1 A T 3: 137,992,558 (GRCm39) I225F possibly damaging Het
Agap2 A G 10: 126,923,319 (GRCm39) K691E unknown Het
Alcam T C 16: 52,073,573 (GRCm39) D564G possibly damaging Het
Apbb2 T A 5: 66,557,598 (GRCm39) T289S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cep68 T C 11: 20,189,393 (GRCm39) I540V probably benign Het
Ctla4 T C 1: 60,948,397 (GRCm39) V23A probably benign Het
Dnah7b T A 1: 46,379,292 (GRCm39) D3675E probably benign Het
Fam209 G T 2: 172,314,555 (GRCm39) V15F probably benign Het
Fat3 A G 9: 15,942,664 (GRCm39) V1236A possibly damaging Het
Gabbr2 A G 4: 46,718,904 (GRCm39) I38T probably damaging Het
Gdpd4 T C 7: 97,615,505 (GRCm39) I110T probably damaging Het
Gm4841 C T 18: 60,402,852 (GRCm39) A414T possibly damaging Het
Gtf3c4 A T 2: 28,724,782 (GRCm39) Y176N probably damaging Het
H2bc18 G A 3: 96,177,060 (GRCm39) probably null Het
Igsf9b T C 9: 27,230,612 (GRCm39) Y264H probably damaging Het
Itih4 A T 14: 30,614,231 (GRCm39) N394Y probably damaging Het
Kmt2c T C 5: 25,500,605 (GRCm39) T3815A possibly damaging Het
Lrwd1 T C 5: 136,152,254 (GRCm39) probably null Het
Mc3r A G 2: 172,091,711 (GRCm39) K311R probably benign Het
Myb T C 10: 21,032,259 (GRCm39) T41A possibly damaging Het
Nfix T C 8: 85,454,554 (GRCm39) D201G probably damaging Het
Nos1 T C 5: 118,085,512 (GRCm39) V1280A probably damaging Het
Or51a5 A C 7: 102,771,782 (GRCm39) S66A probably benign Het
Or8a1b T C 9: 37,623,168 (GRCm39) M136V probably benign Het
Pcdh15 A G 10: 74,178,488 (GRCm39) T582A probably damaging Het
Pcdhb12 C A 18: 37,570,375 (GRCm39) A507E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pkp2 C A 16: 16,087,575 (GRCm39) A753E probably damaging Het
Plekha3 G A 2: 76,513,142 (GRCm39) V76I possibly damaging Het
Pnpla6 T C 8: 3,567,081 (GRCm39) L33P probably damaging Het
Pot1b C T 17: 55,973,400 (GRCm39) probably benign Het
Prr5l T C 2: 101,588,886 (GRCm39) E88G possibly damaging Het
Rttn C T 18: 88,991,813 (GRCm39) Q131* probably null Het
Scaf11 G T 15: 96,316,176 (GRCm39) S1129R possibly damaging Het
Slc25a20 T A 9: 108,559,189 (GRCm39) M185K possibly damaging Het
Sorbs3 T A 14: 70,445,021 (GRCm39) E19V probably damaging Het
Srgap2 A T 1: 131,217,253 (GRCm39) C1020S probably benign Het
Thoc2l T C 5: 104,666,875 (GRCm39) S466P probably benign Het
Tmem109 T C 19: 10,849,205 (GRCm39) R217G possibly damaging Het
Trio A T 15: 27,732,980 (GRCm39) I2967N probably damaging Het
Vars2 T C 17: 35,968,191 (GRCm39) E899G probably benign Het
Vmn2r109 A G 17: 20,774,842 (GRCm39) probably benign Het
Vps53 A G 11: 75,973,485 (GRCm39) F170L probably damaging Het
Zc2hc1a G A 3: 7,591,422 (GRCm39) S149N possibly damaging Het
Zfp820 A G 17: 22,042,817 (GRCm39) probably benign Het
Zhx3 A C 2: 160,622,629 (GRCm39) F513V probably damaging Het
Other mutations in Prss57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Prss57 APN 10 79,621,581 (GRCm39) unclassified probably benign
IGL02675:Prss57 APN 10 79,623,309 (GRCm39) missense probably benign 0.02
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
Predicted Primers
Posted On 2013-11-07