Incidental Mutation 'R4492:Prss8'
ID 330779
Institutional Source Beutler Lab
Gene Symbol Prss8
Ensembl Gene ENSMUSG00000030800
Gene Name serine protease 8 (prostasin)
Synonyms fr, mCAP1, 2410039E18Rik, CAP1
MMRRC Submission 041581-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4492 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127524889-127529266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127528979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 26 (S26P)
Ref Sequence ENSEMBL: ENSMUSP00000145904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032988] [ENSMUST00000033070] [ENSMUST00000094026] [ENSMUST00000118755] [ENSMUST00000141385] [ENSMUST00000206124] [ENSMUST00000206568] [ENSMUST00000156152]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032988
AA Change: S26P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800
AA Change: S26P

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: ENSMUST00000094026
SMART Domains Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 47 287 3.75e-88 SMART
Pfam:Trypsin 325 556 1.2e-16 PFAM
Pfam:Trypsin 599 798 6.6e-20 PFAM
Pfam:DUF1986 607 707 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118755
SMART Domains Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 47 287 3.75e-88 SMART
Pfam:Trypsin 325 545 9.7e-18 PFAM
Pfam:Trypsin 588 787 6.5e-20 PFAM
Pfam:DUF1986 590 696 8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141385
SMART Domains Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371

DomainStartEndE-ValueType
Blast:Tryp_SPc 38 121 3e-44 BLAST
SCOP:d1eaxa_ 45 126 7e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144192
Predicted Effect probably damaging
Transcript: ENSMUST00000206124
AA Change: S26P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000206568
AA Change: S26P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150591
SMART Domains Protein: ENSMUSP00000121532
Gene: ENSMUSG00000070371

DomainStartEndE-ValueType
Tryp_SPc 15 194 6.48e-2 SMART
Blast:Tryp_SPc 231 311 4e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000156152
SMART Domains Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371

DomainStartEndE-ValueType
Blast:Tryp_SPc 2 44 1e-21 BLAST
Tryp_SPc 89 238 8.18e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,561,676 (GRCm39) I157L probably benign Het
Amph T C 13: 19,333,928 (GRCm39) V663A possibly damaging Het
Anapc16 A G 10: 59,826,724 (GRCm39) S50P possibly damaging Het
Ank3 T A 10: 69,644,755 (GRCm39) V60D probably damaging Het
Btbd9 A G 17: 30,746,545 (GRCm39) Y94H probably damaging Het
Chil3 A G 3: 106,063,017 (GRCm39) I191T probably damaging Het
Clpb T C 7: 101,436,929 (GRCm39) L668P probably damaging Het
Cyp2d22 G A 15: 82,258,571 (GRCm39) H97Y probably benign Het
Dhrs7 A T 12: 72,699,899 (GRCm39) N244K probably damaging Het
Dusp4 C T 8: 35,274,890 (GRCm39) T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 106,611,700 (GRCm39) probably null Het
Etl4 G A 2: 20,811,676 (GRCm39) S1621N possibly damaging Het
Fam174a T C 1: 95,241,701 (GRCm39) S54P probably benign Het
Fdxacb1 T C 9: 50,681,547 (GRCm39) F7S probably damaging Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gpr156 T A 16: 37,812,468 (GRCm39) L268H probably damaging Het
Gpr17 A T 18: 32,080,304 (GRCm39) I253N possibly damaging Het
H2-T23 A T 17: 36,343,058 (GRCm39) N106K probably damaging Het
Hspa4 T C 11: 53,171,296 (GRCm39) R303G probably damaging Het
Irgm1 G A 11: 48,756,955 (GRCm39) silent Het
Jph1 A C 1: 17,067,770 (GRCm39) I114S probably damaging Het
Kcna1 C T 6: 126,619,238 (GRCm39) D361N possibly damaging Het
Kcna4 G A 2: 107,126,436 (GRCm39) R390Q probably damaging Het
Lum C A 10: 97,404,300 (GRCm39) P65H probably damaging Het
Mc4r A G 18: 66,992,711 (GRCm39) L134P probably benign Het
Mroh8 A T 2: 157,099,960 (GRCm39) I248N probably damaging Het
Nos2 A G 11: 78,840,921 (GRCm39) T677A probably benign Het
Nup37 T A 10: 88,010,791 (GRCm39) F257I possibly damaging Het
Or13c3 T C 4: 52,855,764 (GRCm39) I250V probably benign Het
Or6k6 C T 1: 173,944,770 (GRCm39) V271I probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,567 (GRCm39) M501R possibly damaging Het
Pitx1 T C 13: 55,976,465 (GRCm39) K65E probably benign Het
Pla1a C T 16: 38,229,972 (GRCm39) A247T probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rock2 T A 12: 17,027,684 (GRCm39) C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Serpina6 A G 12: 103,613,146 (GRCm39) W385R probably damaging Het
Slc12a5 T C 2: 164,821,263 (GRCm39) M249T probably benign Het
Srsf9 T A 5: 115,470,651 (GRCm39) I117N probably damaging Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc21a T C 9: 119,770,346 (GRCm39) V139A probably benign Het
Zfp236 A T 18: 82,648,125 (GRCm39) V1012D probably damaging Het
Zfp612 C A 8: 110,815,929 (GRCm39) Q379K probably damaging Het
Zfp930 C T 8: 69,680,898 (GRCm39) Q198* probably null 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
R0786:Prss8 UTSW 7 127,525,646 (GRCm39) missense probably benign 0.03
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
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'- GCAGAAAGCCTCACCTTCAG -3'
(R):5'- TGATCCCACACCTAGATCCTG -3'

Sequencing Primer
(F):5'- CGTCAGCTCCTGGAGGGAAAG -3'
(R):5'- GCCTTCAAAACCAGCCTTCTG -3'
Posted On 2015-07-21