Incidental Mutation 'IGL03308:Prss23'
ID416456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss23
Ensembl Gene ENSMUSG00000039405
Gene Nameprotease, serine 23
Synonyms2310046G15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03308
Quality Score
Status
Chromosome7
Chromosomal Location89507783-89527187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 89509730 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 377 (L377R)
Ref Sequence ENSEMBL: ENSMUSP00000147183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041761] [ENSMUST00000207538] [ENSMUST00000207636] [ENSMUST00000207932] [ENSMUST00000208402] [ENSMUST00000208888] [ENSMUST00000208903]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032858
Predicted Effect probably benign
Transcript: ENSMUST00000041761
AA Change: L377R

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: L377R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 48 57 N/A INTRINSIC
Tryp_SPc 137 372 2.87e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179361
Predicted Effect probably benign
Transcript: ENSMUST00000207538
Predicted Effect probably benign
Transcript: ENSMUST00000207636
Predicted Effect probably benign
Transcript: ENSMUST00000207932
AA Change: L377R

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000208402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208814
Predicted Effect probably benign
Transcript: ENSMUST00000208888
Predicted Effect probably benign
Transcript: ENSMUST00000208903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209118
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,456,251 I216V probably damaging Het
Abcc1 A G 16: 14,470,611 I1367V possibly damaging Het
Ap1g2 T A 14: 55,104,876 I175F probably benign Het
Atad2 A G 15: 58,102,523 V671A probably benign Het
Ccdc134 A G 15: 82,131,520 D67G probably damaging Het
Cdk17 G A 10: 93,221,644 probably null Het
Col3a1 A G 1: 45,330,617 probably benign Het
Col5a3 A G 9: 20,808,379 L228P unknown Het
Eef1a2 A G 2: 181,148,836 probably benign Het
Fars2 T G 13: 36,204,687 I53R possibly damaging Het
Frmd4a G T 2: 4,498,026 A98S possibly damaging Het
Gprin1 T A 13: 54,740,144 M106L probably benign Het
Hspb8 T C 5: 116,409,342 T194A possibly damaging Het
Ift27 A G 15: 78,166,015 S65P probably damaging Het
Inpp5d A C 1: 87,703,197 Y430S probably damaging Het
Kat6b T C 14: 21,624,834 S356P probably damaging Het
Limch1 C T 5: 67,002,558 T443M possibly damaging Het
Mcf2l C T 8: 13,009,512 R708C probably damaging Het
Mlf1 T C 3: 67,397,807 W214R probably damaging Het
Naga A T 15: 82,335,887 L153Q probably damaging Het
Nbas A G 12: 13,324,348 Q559R possibly damaging Het
Olfr324 T C 11: 58,597,699 F101S probably damaging Het
Olfr720 T A 14: 14,175,161 H307L probably benign Het
Prex2 A G 1: 11,185,175 D1148G possibly damaging Het
Ptprc G T 1: 138,126,320 T27K possibly damaging Het
Rnf213 A G 11: 119,474,172 T4553A probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Skint3 T C 4: 112,254,067 F130L probably damaging Het
Slc8a1 A G 17: 81,442,195 probably benign Het
Stau1 T C 2: 166,950,320 N433D probably damaging Het
Tapbpl G A 6: 125,228,179 A268V possibly damaging Het
Tmem131l T C 3: 83,940,902 I314V probably benign Het
Tmem44 A G 16: 30,543,748 W151R probably damaging Het
Tnnc1 T C 14: 31,209,841 probably benign Het
Traf5 T G 1: 191,997,500 N530T probably damaging Het
Ttn A G 2: 76,746,563 I24662T probably damaging Het
Vmn1r49 A T 6: 90,072,359 H220Q possibly damaging Het
Vmn2r106 A T 17: 20,278,523 C375* probably null Het
Vps26b T C 9: 27,029,500 Y41C probably damaging Het
Wdr64 T C 1: 175,766,996 probably benign Het
Xylt1 C T 7: 117,637,751 Q576* probably null Het
Zfp106 T C 2: 120,524,024 D1422G probably benign Het
Other mutations in Prss23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Prss23 APN 7 89509887 missense possibly damaging 0.83
IGL03349:Prss23 APN 7 89509857 missense probably benign 0.09
IGL03378:Prss23 APN 7 89510144 missense probably damaging 0.99
R0394:Prss23 UTSW 7 89509847 missense probably damaging 1.00
R1026:Prss23 UTSW 7 89509958 missense probably benign 0.01
R1417:Prss23 UTSW 7 89510184 missense probably damaging 1.00
R1467:Prss23 UTSW 7 89510009 missense probably damaging 1.00
R1467:Prss23 UTSW 7 89510009 missense probably damaging 1.00
R1691:Prss23 UTSW 7 89510714 missense probably benign 0.18
R1806:Prss23 UTSW 7 89510391 missense probably damaging 1.00
R2153:Prss23 UTSW 7 89509911 missense probably damaging 1.00
R3420:Prss23 UTSW 7 89509899 missense possibly damaging 0.91
R3849:Prss23 UTSW 7 89509751 missense probably damaging 1.00
R4567:Prss23 UTSW 7 89510866 utr 5 prime probably benign
R4828:Prss23 UTSW 7 89509900 nonsense probably null
R5010:Prss23 UTSW 7 89510214 missense probably benign 0.25
R5251:Prss23 UTSW 7 89510322 missense probably damaging 1.00
R5399:Prss23 UTSW 7 89509966 missense probably benign 0.02
R5629:Prss23 UTSW 7 89510192 missense probably damaging 1.00
R5697:Prss23 UTSW 7 89509982 missense probably damaging 0.99
R6378:Prss23 UTSW 7 89510033 missense probably damaging 1.00
R6716:Prss23 UTSW 7 89509847 missense probably damaging 1.00
R6880:Prss23 UTSW 7 89510825 missense probably benign 0.03
R7097:Prss23 UTSW 7 89510184 missense probably damaging 1.00
R7362:Prss23 UTSW 7 89509764 missense probably damaging 1.00
R7563:Prss23 UTSW 7 89509830 missense probably damaging 1.00
R7637:Prss23 UTSW 7 89510246 missense probably benign 0.00
R7815:Prss23 UTSW 7 89510045 missense probably damaging 0.99
R8047:Prss23 UTSW 7 89509928 missense probably damaging 1.00
Posted On2016-08-02