Incidental Mutation 'R5010:Prss23'
ID 390438
Institutional Source Beutler Lab
Gene Symbol Prss23
Ensembl Gene ENSMUSG00000039405
Gene Name serine protease 23
Synonyms 2310046G15Rik
MMRRC Submission 042601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5010 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89156991-89176395 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89159422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 216 (M216L)
Ref Sequence ENSEMBL: ENSMUSP00000147183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041761] [ENSMUST00000207538] [ENSMUST00000207636] [ENSMUST00000207932] [ENSMUST00000208888] [ENSMUST00000208402] [ENSMUST00000208903]
AlphaFold Q9D6X6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032858
Predicted Effect probably benign
Transcript: ENSMUST00000041761
AA Change: M216L

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: M216L

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: M216L

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000208888
Predicted Effect probably benign
Transcript: ENSMUST00000208402
Predicted Effect probably benign
Transcript: ENSMUST00000208903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209064
Meta Mutation Damage Score 0.0644 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (65/66)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C T 11: 58,313,630 (GRCm39) A86V possibly damaging Het
9430097D07Rik A G 2: 32,464,440 (GRCm39) probably benign Het
Actr5 T A 2: 158,477,283 (GRCm39) D411E probably benign Het
Ang5 A G 14: 44,200,302 (GRCm39) D122G probably benign Het
Atg9a A T 1: 75,162,704 (GRCm39) probably null Het
Cracd G C 5: 76,805,681 (GRCm39) probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ddx11 G A 17: 66,454,717 (GRCm39) V642M possibly damaging Het
Dis3l2 G A 1: 86,688,043 (GRCm39) V100I probably benign Het
Echdc2 T C 4: 108,029,328 (GRCm39) V111A probably benign Het
Egr1 A G 18: 34,996,711 (GRCm39) T498A probably benign Het
Exosc3 T C 4: 45,317,702 (GRCm39) K200R possibly damaging Het
Exosc8 T C 3: 54,636,644 (GRCm39) D229G probably benign Het
Ext1 T A 15: 52,955,808 (GRCm39) I430F probably damaging Het
Fbxw22 T C 9: 109,232,492 (GRCm39) N31S probably benign Het
Gja8 T C 3: 96,827,165 (GRCm39) T166A probably benign Het
Gm21814 T A 6: 149,485,116 (GRCm39) noncoding transcript Het
Gm21915 T A 9: 40,581,944 (GRCm39) H12Q probably benign Het
Hgsnat G A 8: 26,437,988 (GRCm39) R527* probably null Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Jchain T C 5: 88,670,364 (GRCm39) H85R probably damaging Het
Kcnb2 T C 1: 15,383,186 (GRCm39) C171R probably benign Het
Kcnk3 C A 5: 30,780,149 (GRCm39) R400S possibly damaging Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Lrrfip2 T C 9: 111,053,040 (GRCm39) I375T possibly damaging Het
Mccc1 T C 3: 36,033,166 (GRCm39) N326S probably benign Het
Med13l T C 5: 118,731,615 (GRCm39) V97A possibly damaging Het
Mertk C A 2: 128,625,920 (GRCm39) T685K probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Myom2 G A 8: 15,133,310 (GRCm39) V401M probably damaging Het
Nme5 A C 18: 34,711,738 (GRCm39) M1R probably null Het
Nop2 T C 6: 125,110,726 (GRCm39) S68P probably benign Het
Notch1 A T 2: 26,366,126 (GRCm39) D809E possibly damaging Het
Or14c39 T C 7: 86,343,793 (GRCm39) I43T possibly damaging Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Psg18 A T 7: 18,083,279 (GRCm39) V171D probably damaging Het
Psg28 A G 7: 18,161,816 (GRCm39) V229A probably damaging Het
Qser1 T C 2: 104,618,176 (GRCm39) N879D possibly damaging Het
Rpap1 T C 2: 119,600,522 (GRCm39) N879S probably benign Het
Rusc2 T C 4: 43,415,926 (GRCm39) S411P probably damaging Het
Rxfp2 T A 5: 149,990,825 (GRCm39) W519R probably damaging Het
Scpep1 T A 11: 88,832,175 (GRCm39) Q185L probably benign Het
Serpinb11 A G 1: 107,307,379 (GRCm39) N270S probably benign Het
Serpinb6d T A 13: 33,855,427 (GRCm39) M367K probably benign Het
Skint10 T G 4: 112,584,869 (GRCm39) I213L probably benign Het
Skint5 T C 4: 113,403,734 (GRCm39) T1163A unknown Het
Slamf9 A T 1: 172,303,780 (GRCm39) I42L possibly damaging Het
Slc1a3 T C 15: 8,680,330 (GRCm39) probably benign Het
Smad6 T A 9: 63,861,182 (GRCm39) Q371L possibly damaging Het
Snx31 A T 15: 36,555,469 (GRCm39) V26E probably damaging Het
Spata31e5 A G 1: 28,816,943 (GRCm39) I363T possibly damaging Het
Taf4b A G 18: 14,955,229 (GRCm39) N594S possibly damaging Het
Tanc2 T C 11: 105,670,918 (GRCm39) S172P probably damaging Het
Tas2r110 T A 6: 132,845,438 (GRCm39) Y156* probably null Het
Tbc1d20 G A 2: 152,135,856 (GRCm39) probably benign Het
Timm50 A T 7: 28,006,284 (GRCm39) D272E probably benign Het
Ttn T G 2: 76,730,855 (GRCm39) probably benign Het
Vps13c T A 9: 67,823,661 (GRCm39) F1362I probably benign Het
Vwf T C 6: 125,543,220 (GRCm39) S154P probably benign Het
Zfp445 T C 9: 122,681,410 (GRCm39) R844G probably benign Het
Other mutations in Prss23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Prss23 APN 7 89,159,095 (GRCm39) missense possibly damaging 0.83
IGL03308:Prss23 APN 7 89,158,938 (GRCm39) missense probably benign 0.09
IGL03349:Prss23 APN 7 89,159,065 (GRCm39) missense probably benign 0.09
IGL03378:Prss23 APN 7 89,159,352 (GRCm39) missense probably damaging 0.99
R0394:Prss23 UTSW 7 89,159,055 (GRCm39) missense probably damaging 1.00
R1026:Prss23 UTSW 7 89,159,166 (GRCm39) missense probably benign 0.01
R1417:Prss23 UTSW 7 89,159,392 (GRCm39) missense probably damaging 1.00
R1467:Prss23 UTSW 7 89,159,217 (GRCm39) missense probably damaging 1.00
R1467:Prss23 UTSW 7 89,159,217 (GRCm39) missense probably damaging 1.00
R1691:Prss23 UTSW 7 89,159,922 (GRCm39) missense probably benign 0.18
R1806:Prss23 UTSW 7 89,159,599 (GRCm39) missense probably damaging 1.00
R2153:Prss23 UTSW 7 89,159,119 (GRCm39) missense probably damaging 1.00
R3420:Prss23 UTSW 7 89,159,107 (GRCm39) missense possibly damaging 0.91
R3849:Prss23 UTSW 7 89,158,959 (GRCm39) missense probably damaging 1.00
R4567:Prss23 UTSW 7 89,160,074 (GRCm39) utr 5 prime probably benign
R4828:Prss23 UTSW 7 89,159,108 (GRCm39) nonsense probably null
R5251:Prss23 UTSW 7 89,159,530 (GRCm39) missense probably damaging 1.00
R5399:Prss23 UTSW 7 89,159,174 (GRCm39) missense probably benign 0.02
R5629:Prss23 UTSW 7 89,159,400 (GRCm39) missense probably damaging 1.00
R5697:Prss23 UTSW 7 89,159,190 (GRCm39) missense probably damaging 0.99
R6378:Prss23 UTSW 7 89,159,241 (GRCm39) missense probably damaging 1.00
R6716:Prss23 UTSW 7 89,159,055 (GRCm39) missense probably damaging 1.00
R6880:Prss23 UTSW 7 89,160,033 (GRCm39) missense probably benign 0.03
R7097:Prss23 UTSW 7 89,159,392 (GRCm39) missense probably damaging 1.00
R7362:Prss23 UTSW 7 89,158,972 (GRCm39) missense probably damaging 1.00
R7563:Prss23 UTSW 7 89,159,038 (GRCm39) missense probably damaging 1.00
R7637:Prss23 UTSW 7 89,159,454 (GRCm39) missense probably benign 0.00
R7815:Prss23 UTSW 7 89,159,253 (GRCm39) missense probably damaging 0.99
R8047:Prss23 UTSW 7 89,159,136 (GRCm39) missense probably damaging 1.00
R8548:Prss23 UTSW 7 89,159,416 (GRCm39) missense probably benign 0.21
R8869:Prss23 UTSW 7 89,159,887 (GRCm39) missense probably benign 0.00
R8914:Prss23 UTSW 7 89,159,854 (GRCm39) missense probably benign
R9310:Prss23 UTSW 7 89,159,142 (GRCm39) missense probably damaging 1.00
R9729:Prss23 UTSW 7 89,159,931 (GRCm39) missense probably benign
R9762:Prss23 UTSW 7 89,159,683 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGAGAAGTGGATCCTGC -3'
(R):5'- TATCCTTTCTCAACATCGGTGAAG -3'

Sequencing Primer
(F):5'- AAGTGGATCCTGCCCCCTG -3'
(R):5'- CTCAACATCGGTGAAGTTGTC -3'
Posted On 2016-06-06