Incidental Mutation 'IGL01764:Prss32'
ID153629
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: 0.077) question?
Stock #IGL01764
Quality Score
Status
Chromosome17
Chromosomal Location23843855-23859776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23856111 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000050389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061725] [ENSMUST00000154347]
Predicted Effect probably damaging
Transcript: ENSMUST00000061725
AA Change: D145G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: D145G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,074,046 M1L probably benign Het
BC025920 T A 10: 81,609,150 Y36N probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk11b G A 4: 155,628,803 R112H possibly damaging Het
Ctu2 G A 8: 122,479,422 probably benign Het
Ddx56 A C 11: 6,265,692 V219G probably null Het
Dnah14 T C 1: 181,744,777 V2891A probably benign Het
Fbn2 G T 18: 58,045,351 N1938K probably damaging Het
Fbxw20 A G 9: 109,223,359 M302T possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm10639 A T 9: 78,304,507 probably null Het
Gpat2 T C 2: 127,427,536 I36T probably benign Het
Hmcn2 A G 2: 31,405,630 E2617G possibly damaging Het
Krba1 C T 6: 48,415,836 R895W probably benign Het
Large2 G T 2: 92,367,186 probably benign Het
Lrp1b C T 2: 40,697,442 V165M unknown Het
Mapk1 T A 16: 16,983,733 M36K possibly damaging Het
Nf1 A G 11: 79,384,187 T25A probably benign Het
Nrxn3 G A 12: 90,204,750 V1316I possibly damaging Het
Pik3r4 G A 9: 105,685,122 probably benign Het
Plekhh1 G T 12: 79,054,905 A250S probably benign Het
Polr3g G A 13: 81,682,119 T145M possibly damaging Het
Rab11fip3 T C 17: 26,068,693 K162R probably benign Het
Spag7 A G 11: 70,664,107 probably benign Het
Spata2l T A 8: 123,234,175 Q125L probably benign Het
Tlr9 G T 9: 106,225,805 C765F probably damaging Het
Trip11 A T 12: 101,884,631 I773N probably damaging Het
Vcan T G 13: 89,725,388 T116P probably damaging Het
Vmn2r22 C T 6: 123,650,420 probably null Het
Yme1l1 T C 2: 23,162,544 I70T probably benign Het
Zfp938 T A 10: 82,227,790 probably benign 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
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 On2014-02-04