Incidental Mutation 'P0045:Prss32'
ID7659
Institutional Source Beutler Lab
Gene Symbol Prss32
Ensembl Gene ENSMUSG00000048992
Gene Nameprotease, serine 32
SynonymsmT5, tryptase-5, 2010001P08Rik
MMRRC Submission 038292-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #P0045 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location23843855-23859776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23859320 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 327 (S327G)
Ref Sequence ENSEMBL: ENSMUSP00000050389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061725] [ENSMUST00000154347]
Predicted Effect probably benign
Transcript: ENSMUST00000061725
AA Change: S327G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: S327G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
Tryp_SPc 53 292 2.75e-95 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144925
Predicted Effect probably benign
Transcript: ENSMUST00000154347
SMART Domains Protein: ENSMUSP00000116979
Gene: ENSMUSG00000048992

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
SCOP:g1fiw.1 42 68 6e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161395
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 79.8%
  • 3x: 69.7%
  • 10x: 39.8%
  • 20x: 17.7%
Validation Efficiency 80% (82/102)
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T A 11: 83,368,026 N736K probably damaging Het
Chsy3 C A 18: 59,409,006 Y405* probably null Het
Col12a1 A G 9: 79,647,611 S2062P probably damaging Het
Ddx42 T A 11: 106,231,272 D204E probably damaging Het
Dnah11 A G 12: 118,030,327 V2328A probably benign Het
Efcab6 T C 15: 83,918,199 K876E probably damaging Het
Immt T G 6: 71,868,617 I404M possibly damaging Het
Kcp A G 6: 29,498,348 V403A probably damaging Het
Litaf C T 16: 10,963,365 R90H probably benign Het
Med12l T A 3: 59,091,535 S639T probably damaging Het
Pcm1 T A 8: 41,288,097 M1091K probably damaging Het
Pramel1 C T 4: 143,398,522 R339* probably null Het
Tnfsf8 A G 4: 63,851,167 probably benign Het
Tpm3 T C 3: 90,091,093 probably null Het
Ubac2 T C 14: 121,973,596 probably benign Het
Yeats2 A G 16: 20,156,945 E117G possibly damaging Het
Other mutations in Prss32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Prss32 APN 17 23857362 missense probably damaging 1.00
IGL00942:Prss32 APN 17 23859160 nonsense probably null
IGL01593:Prss32 APN 17 23856008 missense probably benign 0.01
IGL01764:Prss32 APN 17 23856111 missense probably damaging 1.00
IGL02313:Prss32 APN 17 23856122 missense probably benign 0.17
IGL02625:Prss32 APN 17 23856236 missense possibly damaging 0.92
R1867:Prss32 UTSW 17 23853894 missense probably benign 0.07
R1936:Prss32 UTSW 17 23856050 missense possibly damaging 0.84
R2184:Prss32 UTSW 17 23859323 missense probably benign 0.38
R4913:Prss32 UTSW 17 23859183 missense probably damaging 1.00
R5049:Prss32 UTSW 17 23859247 missense possibly damaging 0.68
R7076:Prss32 UTSW 17 23853921 missense possibly damaging 0.54
Posted On2012-10-29