Incidental Mutation 'R3849:Prss23'
ID 275817
Institutional Source Beutler Lab
Gene Symbol Prss23
Ensembl Gene ENSMUSG00000039405
Gene Name serine protease 23
Synonyms 2310046G15Rik
MMRRC Submission 040897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R3849 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89156991-89176395 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89158959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 370 (Y370C)
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 damaging
Transcript: ENSMUST00000041761
AA Change: Y370C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: Y370C

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 damaging
Transcript: ENSMUST00000207932
AA Change: Y370C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209118
Predicted Effect probably benign
Transcript: ENSMUST00000208888
Predicted Effect probably benign
Transcript: ENSMUST00000208402
Predicted Effect probably benign
Transcript: ENSMUST00000208903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209064
Meta Mutation Damage Score 0.2464 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,978,069 (GRCm39) N102K possibly damaging Het
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Aspm T A 1: 139,386,024 (GRCm39) V556E probably benign Het
Axin1 T A 17: 26,406,771 (GRCm39) Y455N probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Car8 T A 4: 8,189,353 (GRCm39) I154F probably benign Het
Ccl27a T A 4: 41,773,232 (GRCm39) T76S probably benign Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Chd1 A T 17: 15,952,133 (GRCm39) T291S probably damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpa4 T C 6: 30,590,872 (GRCm39) F390S probably damaging Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Dusp8 T C 7: 141,643,802 (GRCm39) E37G probably damaging Het
Efr3b T C 12: 4,033,414 (GRCm39) N131S probably benign Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fcgr2b T C 1: 170,795,704 (GRCm39) N75S possibly damaging Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gp9 A G 6: 87,756,133 (GRCm39) I49M probably benign Het
Grip1 G A 10: 119,765,863 (GRCm39) G65D probably damaging Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hpx A G 7: 105,245,498 (GRCm39) C92R probably damaging Het
Ighv1-22 A G 12: 114,710,301 (GRCm39) F9S possibly damaging Het
Kif24 C T 4: 41,404,734 (GRCm39) R422H probably damaging Het
Klk1b1 T C 7: 43,618,751 (GRCm39) Y43H probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrguk A G 6: 34,050,703 (GRCm39) D387G probably damaging Het
Lysmd1 G A 3: 95,045,772 (GRCm39) G203D probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Mtr A G 13: 12,262,251 (GRCm39) S152P probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Ndufa13 T C 8: 70,354,260 (GRCm39) D9G probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nsd1 A G 13: 55,394,504 (GRCm39) T702A probably benign Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Plxnc1 A G 10: 94,630,294 (GRCm39) V1535A probably benign Het
Prdx5 A G 19: 6,884,218 (GRCm39) L166P probably damaging Het
Prol1 A T 5: 88,476,476 (GRCm39) I289F unknown Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnase2b T A 14: 51,400,205 (GRCm39) H95Q probably damaging Het
Rnf103 C G 6: 71,485,859 (GRCm39) C163W probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Rusf1 C T 7: 127,884,380 (GRCm39) V201I probably damaging Het
Syne2 C T 12: 76,092,839 (GRCm39) Q5150* probably null Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Vwa3a A T 7: 120,361,687 (GRCm39) K133* probably null Het
Vwce T C 19: 10,624,269 (GRCm39) S387P probably damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q 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
R4567:Prss23 UTSW 7 89,160,074 (GRCm39) utr 5 prime probably benign
R4828:Prss23 UTSW 7 89,159,108 (GRCm39) nonsense probably null
R5010:Prss23 UTSW 7 89,159,422 (GRCm39) missense probably benign 0.25
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'- CTGCTTAAATGCTATAACGCACAC -3'
(R):5'- CCTTCTCTACCAGCAGTGTGAC -3'

Sequencing Primer
(F):5'- TTAAATGCTATAACGCACACAACAG -3'
(R):5'- AGCAGTGTGACGCCCAG -3'
Posted On 2015-04-06