Incidental Mutation 'R0786:Prss8'
ID 76859
Institutional Source Beutler Lab
Gene Symbol Prss8
Ensembl Gene ENSMUSG00000030800
Gene Name serine protease 8 (prostasin)
Synonyms fr, mCAP1, 2410039E18Rik, CAP1
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127524889-127529266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127525646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 291 (R291Q)
Ref Sequence ENSEMBL: ENSMUSP00000145904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032988] [ENSMUST00000033070] [ENSMUST00000206124] [ENSMUST00000206568]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032988
AA Change: R291Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800
AA Change: R291Q

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Tryp_SPc 44 281 3.55e-98 SMART
low complexity region 320 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033070
SMART Domains Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
CHROMO 69 123 6.6e-8 SMART
Blast:PHD 177 214 4e-6 BLAST
Pfam:MOZ_SAS 235 412 5.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206124
AA Change: R291Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000206568
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]
PHENOTYPE: Nullizygous mutations result in impaired skin barrier function, dehydration, and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Prss8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01737:Prss8 APN 7 127,525,752 (GRCm39) missense probably damaging 1.00
PIT1430001:Prss8 UTSW 7 127,521,424 (GRCm39) unclassified probably benign
R0326:Prss8 UTSW 7 127,526,348 (GRCm39) missense probably benign 0.17
R1381:Prss8 UTSW 7 127,529,021 (GRCm39) small deletion probably benign
R1919:Prss8 UTSW 7 127,529,030 (GRCm39) missense probably benign 0.32
R2074:Prss8 UTSW 7 127,526,266 (GRCm39) missense possibly damaging 0.64
R2075:Prss8 UTSW 7 127,526,266 (GRCm39) missense possibly damaging 0.64
R4492:Prss8 UTSW 7 127,528,979 (GRCm39) missense probably damaging 0.98
R4989:Prss8 UTSW 7 127,525,635 (GRCm39) missense probably benign 0.02
R7286:Prss8 UTSW 7 127,526,056 (GRCm39) missense probably damaging 1.00
R7322:Prss8 UTSW 7 127,528,735 (GRCm39) missense probably benign
R9279:Prss8 UTSW 7 127,527,082 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGTGGTCCTGGAAGCATGGTCAAC -3'
(R):5'- ACTATTGGCCTGAGGTCTGTCCTG -3'

Sequencing Primer
(F):5'- CTGGAAGCATGGTCAACTTTGAG -3'
(R):5'- TGAGGTCTGTCCTGACAGC -3'
Posted On 2013-10-16