Incidental Mutation 'IGL00917:Prss50'
ID 28148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss50
Ensembl Gene ENSMUSG00000048752
Gene Name serine protease 50
Synonyms Tsp50
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL00917
Quality Score
Status
Chromosome 9
Chromosomal Location 110687035-110693697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110691474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 259 (H259Q)
Ref Sequence ENSEMBL: ENSMUSP00000059668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050958] [ENSMUST00000051097]
AlphaFold Q8BLH5
Predicted Effect probably benign
Transcript: ENSMUST00000050958
SMART Domains Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
low complexity region 37 44 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000051097
AA Change: H259Q

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752
AA Change: H259Q

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
low complexity region 112 127 N/A INTRINSIC
Tryp_SPc 172 407 2.87e-43 SMART
low complexity region 425 439 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000196027
AA Change: H67Q
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,241,107 (GRCm39) V26E probably benign Het
Adcy4 T A 14: 56,011,120 (GRCm39) probably null Het
Adgrl3 C T 5: 81,841,421 (GRCm39) T766I possibly damaging Het
Atad2b A T 12: 5,015,837 (GRCm39) probably benign Het
Atp8b4 A T 2: 126,216,453 (GRCm39) S664R probably benign Het
Cand1 A C 10: 119,046,841 (GRCm39) I883S possibly damaging Het
Cfap53 A G 18: 74,432,367 (GRCm39) D85G probably benign Het
Chd4 G A 6: 125,081,909 (GRCm39) R514Q possibly damaging Het
Cnst T C 1: 179,452,557 (GRCm39) probably benign Het
Col6a6 T C 9: 105,661,453 (GRCm39) probably benign Het
Cux2 A C 5: 122,007,168 (GRCm39) L831R probably null Het
Elf2 T A 3: 51,215,467 (GRCm39) probably benign Het
Frey1 T A 2: 92,213,563 (GRCm39) S39T probably benign Het
Glp1r A G 17: 31,138,443 (GRCm39) probably benign Het
Hus1b A G 13: 31,131,527 (GRCm39) M44T probably benign Het
Mbd6 A G 10: 127,119,988 (GRCm39) probably benign Het
Med31 T A 11: 72,102,905 (GRCm39) probably null Het
Mmrn1 C T 6: 60,952,894 (GRCm39) Q392* probably null Het
Mrpl3 T G 9: 104,934,240 (GRCm39) V121G probably damaging Het
Or10am5 A G 7: 6,517,577 (GRCm39) S284P probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Palld A G 8: 61,968,969 (GRCm39) V879A possibly damaging Het
Pkn2 G T 3: 142,559,386 (GRCm39) D46E probably damaging Het
Prkdc T A 16: 15,557,428 (GRCm39) C2244S probably damaging Het
Rab8b C T 9: 66,761,969 (GRCm39) W102* probably null Het
Rad54l2 A T 9: 106,587,638 (GRCm39) L709Q possibly damaging Het
Rapgef1 T C 2: 29,592,535 (GRCm39) V471A probably benign Het
Rbms3 A G 9: 116,939,183 (GRCm39) S27P probably damaging Het
Rpl35a A G 16: 32,879,101 (GRCm39) K73E possibly damaging Het
Sugct A T 13: 17,032,503 (GRCm39) Y416* probably null Het
Top2b A G 14: 16,407,354 (GRCm38) I713V probably benign Het
Unc79 A T 12: 103,054,766 (GRCm39) R777S possibly damaging Het
Vps37a T A 8: 40,993,779 (GRCm39) M258K probably benign Het
Zfp944 G A 17: 22,558,765 (GRCm39) L161F probably benign Het
Other mutations in Prss50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01838:Prss50 APN 9 110,693,560 (GRCm39) missense probably benign 0.38
IGL03185:Prss50 APN 9 110,687,279 (GRCm39) missense probably benign
R0347:Prss50 UTSW 9 110,691,418 (GRCm39) missense probably damaging 0.97
R1545:Prss50 UTSW 9 110,690,336 (GRCm39) missense probably damaging 0.99
R1660:Prss50 UTSW 9 110,691,557 (GRCm39) missense possibly damaging 0.61
R1844:Prss50 UTSW 9 110,687,081 (GRCm39) unclassified probably benign
R1969:Prss50 UTSW 9 110,691,449 (GRCm39) missense probably damaging 0.97
R2025:Prss50 UTSW 9 110,690,328 (GRCm39) missense probably benign 0.00
R2090:Prss50 UTSW 9 110,691,361 (GRCm39) missense probably damaging 1.00
R2917:Prss50 UTSW 9 110,691,613 (GRCm39) missense probably null 1.00
R4063:Prss50 UTSW 9 110,687,480 (GRCm39) missense probably benign
R4799:Prss50 UTSW 9 110,692,864 (GRCm39) missense probably damaging 0.99
R5763:Prss50 UTSW 9 110,691,517 (GRCm39) nonsense probably null
R5984:Prss50 UTSW 9 110,691,454 (GRCm39) missense probably damaging 0.97
R6159:Prss50 UTSW 9 110,693,371 (GRCm39) missense probably benign 0.32
R6318:Prss50 UTSW 9 110,690,367 (GRCm39) missense probably damaging 1.00
R7296:Prss50 UTSW 9 110,690,357 (GRCm39) missense probably damaging 1.00
R7323:Prss50 UTSW 9 110,692,800 (GRCm39) missense possibly damaging 0.83
R7720:Prss50 UTSW 9 110,690,403 (GRCm39) missense probably damaging 1.00
R8359:Prss50 UTSW 9 110,691,370 (GRCm39) missense probably damaging 0.97
R8428:Prss50 UTSW 9 110,687,128 (GRCm39) missense unknown
R8841:Prss50 UTSW 9 110,687,480 (GRCm39) missense probably benign
R8851:Prss50 UTSW 9 110,687,081 (GRCm39) unclassified probably benign
Posted On 2013-04-17