Incidental Mutation 'IGL00843:Prss32'
ID13188
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: 0.070) question?
Stock #IGL00843
Quality Score
Status
Chromosome17
Chromosomal Location23843855-23859776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23857362 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 233 (L233Q)
Ref Sequence ENSEMBL: ENSMUSP00000050389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061725] [ENSMUST00000154347]
Predicted Effect probably damaging
Transcript: ENSMUST00000061725
AA Change: L233Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: L233Q

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,384,350 probably null Het
Clcn2 T C 16: 20,703,641 T772A probably benign Het
Cldn18 A T 9: 99,698,821 F125I probably benign Het
Ehhadh A G 16: 21,762,629 S538P possibly damaging Het
Ets2 T G 16: 95,709,793 F32V probably benign Het
F5 G A 1: 164,211,791 R1990Q probably benign Het
Fetub A G 16: 22,929,629 probably benign Het
Hecw1 C T 13: 14,247,573 E983K probably benign Het
Hemgn A G 4: 46,396,240 M332T probably benign Het
Hmcn1 A G 1: 150,610,713 I4314T possibly damaging Het
Impad1 T C 4: 4,776,308 probably benign Het
Lonrf2 C A 1: 38,812,535 probably benign Het
Lrrc9 T C 12: 72,463,417 I430T possibly damaging Het
Lrrk2 T C 15: 91,757,058 V1606A possibly damaging Het
Oog2 G T 4: 144,195,172 L217F probably damaging Het
Plxnc1 T C 10: 94,847,549 H791R probably benign Het
Prdm2 G A 4: 143,134,314 S802L probably damaging Het
Rapgef6 T A 11: 54,691,273 V1337E probably benign Het
Slc15a3 T A 19: 10,853,263 M326K probably null Het
Slc25a54 A T 3: 109,112,860 T397S possibly damaging Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Stradb T A 1: 58,994,409 D410E probably benign Het
Tdh T C 14: 63,495,764 T178A probably damaging Het
Tspan12 T A 6: 21,851,082 probably benign Het
Ube2b A T 11: 51,995,375 D50E probably benign Het
Zranb1 A C 7: 132,949,893 H117P probably benign Het
Other mutations in Prss32
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-12-06