Incidental Mutation 'IGL01737:Prss8'
ID 105745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss8
Ensembl Gene ENSMUSG00000030800
Gene Name serine protease 8 (prostasin)
Synonyms fr, mCAP1, 2410039E18Rik, CAP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01737
Quality Score
Status
Chromosome 7
Chromosomal Location 127524889-127529266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127525752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 256 (V256M)
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 damaging
Transcript: ENSMUST00000032988
AA Change: V256M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800
AA Change: V256M

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 damaging
Transcript: ENSMUST00000206124
AA Change: V256M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206568
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 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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A G 13: 104,526,643 (GRCm39) I524V probably damaging Het
Atxn2 T A 5: 121,935,407 (GRCm39) M336K probably damaging Het
Bcr T A 10: 74,990,783 (GRCm39) F763Y probably damaging Het
Bdnf A G 2: 109,554,100 (GRCm39) Y158C probably damaging Het
Ccdc92 T C 5: 124,912,920 (GRCm39) E203G probably damaging Het
Cyp2j12 T C 4: 96,010,895 (GRCm39) *72W probably null Het
Def6 G T 17: 28,442,701 (GRCm39) R288L possibly damaging Het
Foxn1 T G 11: 78,251,732 (GRCm39) S500R possibly damaging Het
Gss T C 2: 155,409,726 (GRCm39) K77E probably damaging Het
Habp2 G A 19: 56,304,739 (GRCm39) G410D probably benign Het
Krt36 A T 11: 99,994,946 (GRCm39) C209S possibly damaging Het
Mmrn1 T C 6: 60,954,145 (GRCm39) F809L probably benign Het
Mptx2 C A 1: 173,102,408 (GRCm39) V94F probably damaging Het
Myh4 G T 11: 67,134,245 (GRCm39) probably benign Het
N4bp2l1 G T 5: 150,517,781 (GRCm39) H41N possibly damaging Het
Ndnf T A 6: 65,680,539 (GRCm39) S273T probably benign Het
Nt5c1b A T 12: 10,440,108 (GRCm39) Y624F possibly damaging Het
Ramp1 T C 1: 91,150,821 (GRCm39) probably benign Het
Sf3b2 A G 19: 5,329,866 (GRCm39) probably benign Het
Tfdp2 G A 9: 96,182,465 (GRCm39) R235Q possibly damaging Het
Tle1 C T 4: 72,116,058 (GRCm39) probably benign Het
Tmprss11e A G 5: 86,867,593 (GRCm39) V159A probably damaging Het
Trim12c A G 7: 103,997,269 (GRCm39) C96R probably damaging Het
Usp24 A G 4: 106,244,931 (GRCm39) D1256G probably benign Het
Other mutations in Prss8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-01-21