Incidental Mutation 'IGL01593:Prss32'
ID91638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss32
Ensembl Gene ENSMUSG00000048992
Gene Nameprotease, serine 32
SynonymsmT5, tryptase-5, 2010001P08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01593
Quality Score
Status
Chromosome17
Chromosomal Location23843855-23859776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23856008 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 111 (T111A)
Ref Sequence ENSEMBL: ENSMUSP00000050389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061725] [ENSMUST00000154347]
Predicted Effect probably benign
Transcript: ENSMUST00000061725
AA Change: T111A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: T111A

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 unknown
Transcript: ENSMUST00000154347
AA Change: Y81C
SMART Domains Protein: ENSMUSP00000116979
Gene: ENSMUSG00000048992
AA Change: Y81C

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,650 I310N probably damaging Het
Ackr4 C T 9: 104,085,931 probably benign Het
Ankib1 A T 5: 3,732,590 D346E probably benign Het
Armc4 T C 18: 7,127,345 K956R probably benign Het
Asap2 G T 12: 21,213,202 A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 R219L probably damaging Het
Atp6v1e2 A T 17: 86,944,299 F224I probably damaging Het
Bnc2 T C 4: 84,276,241 probably null Het
Btbd11 T A 10: 85,654,475 probably benign Het
Cd33 A G 7: 43,530,281 L241P possibly damaging Het
Clec4g A T 8: 3,719,474 probably null Het
Dym C T 18: 75,114,781 probably benign Het
Enpp5 A G 17: 44,080,721 T14A probably benign Het
Ggt1 T C 10: 75,585,287 probably null Het
Gm17541 T A 12: 4,689,868 probably benign Het
Gpr39 A T 1: 125,677,451 I39F probably benign Het
Kcnb1 G T 2: 167,106,207 F240L probably damaging Het
Kcnt1 T A 2: 25,898,754 V400E probably damaging Het
Klhdc7a A G 4: 139,966,814 I274T probably damaging Het
Lrwd1 A T 5: 136,134,629 L71Q probably damaging Het
Mycbp2 A T 14: 103,291,287 probably null Het
Nckap1 A T 2: 80,520,570 M725K probably benign Het
Olfr1535 T A 13: 21,555,219 I268F probably damaging Het
Pole2 C T 12: 69,223,099 probably null Het
Rgs9 A G 11: 109,249,049 probably benign Het
Slc2a4 A G 11: 69,944,828 C361R probably damaging Het
Ston1 G A 17: 88,637,010 G615R probably null Het
Tas2r139 T G 6: 42,140,957 W8G probably benign Het
Tmem101 A T 11: 102,155,878 L55Q probably damaging Het
Tnni3k T C 3: 154,941,029 probably null Het
Uba2 A G 7: 34,146,264 V478A probably damaging Het
Vps13a T C 19: 16,762,181 D52G probably 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
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
P0045:Prss32 UTSW 17 23859320 missense probably benign 0.23
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 On2013-12-09