Incidental Mutation 'R8983:Prss59'
ID 683817
Institutional Source Beutler Lab
Gene Symbol Prss59
Ensembl Gene ENSMUSG00000029883
Gene Name serine protease 59
Synonyms Tryx5, 1700074P13Rik
MMRRC Submission 068816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R8983 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 40897371-40917491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40897934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 250 (S250P)
Ref Sequence ENSEMBL: ENSMUSP00000031935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031935] [ENSMUST00000122181] [ENSMUST00000136499]
AlphaFold Q9D9G7
Predicted Effect possibly damaging
Transcript: ENSMUST00000031935
AA Change: S250P

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031935
Gene: ENSMUSG00000029883
AA Change: S250P

DomainStartEndE-ValueType
Tryp_SPc 24 244 4.27e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122181
AA Change: S250P

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112987
Gene: ENSMUSG00000029883
AA Change: S250P

DomainStartEndE-ValueType
Tryp_SPc 24 244 4.27e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136499
SMART Domains Protein: ENSMUSP00000116538
Gene: ENSMUSG00000029883

DomainStartEndE-ValueType
Tryp_SPc 24 174 6.08e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (61/61)
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,313,272 (GRCm39) F632I unknown Het
5730522E02Rik T C 11: 25,719,069 (GRCm39) T26A unknown Het
Ablim1 A T 19: 57,227,644 (GRCm39) V7E probably benign Het
Adcy5 T G 16: 34,977,232 (GRCm39) L255R possibly damaging Het
Ahnak C A 19: 8,981,477 (GRCm39) N920K possibly damaging Het
Arhgef11 A G 3: 87,640,508 (GRCm39) K1251E Het
Astn1 T A 1: 158,491,700 (GRCm39) probably null Het
Atxn2 A G 5: 121,916,063 (GRCm39) Y423C probably damaging Het
Ccdc180 T A 4: 45,909,359 (GRCm39) V509D possibly damaging Het
Ccdc80 T C 16: 44,924,780 (GRCm39) V638A possibly damaging Het
Ccr6 T G 17: 8,474,878 (GRCm39) C28G probably damaging Het
Cdca7l A G 12: 117,828,902 (GRCm39) probably benign Het
Cnot3 T C 7: 3,654,328 (GRCm39) I52T probably damaging Het
Cped1 A T 6: 22,138,686 (GRCm39) N555I probably benign Het
Cpne6 A T 14: 55,753,711 (GRCm39) I390F probably damaging Het
Dlec1 A G 9: 118,957,419 (GRCm39) D836G probably benign Het
Dnah8 T A 17: 31,070,628 (GRCm39) V4438D probably damaging Het
Dok3 G T 13: 55,671,535 (GRCm39) N345K probably damaging Het
Eea1 C T 10: 95,855,741 (GRCm39) Q593* probably null Het
Eif3m T C 2: 104,830,139 (GRCm39) Y351C possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Epn3 T C 11: 94,386,914 (GRCm39) E152G probably damaging Het
Faf2 A G 13: 54,769,726 (GRCm39) S25G probably benign Het
Fam83b A G 9: 76,400,357 (GRCm39) S249P probably damaging Het
Fgl1 A T 8: 41,653,496 (GRCm39) S132R probably benign Het
Frem3 A G 8: 81,395,875 (GRCm39) E1890G probably damaging Het
Gpc5 T A 14: 115,330,118 (GRCm39) S94T unknown Het
Hectd1 A G 12: 51,791,410 (GRCm39) V2584A probably damaging Het
Kifc3 G A 8: 95,833,104 (GRCm39) A498V probably damaging Het
Klra6 T C 6: 129,999,573 (GRCm39) T132A probably benign Het
Loricrin T C 3: 91,988,446 (GRCm39) Y280C unknown Het
Lpin2 C T 17: 71,553,962 (GRCm39) A931V unknown Het
Lpxn A G 19: 12,810,522 (GRCm39) H322R probably damaging Het
Megf9 A G 4: 70,353,634 (GRCm39) S391P probably benign Het
Mipep G A 14: 61,080,702 (GRCm39) V565I probably benign Het
Mmrn1 C T 6: 60,953,042 (GRCm39) T441I probably benign Het
Mrpl48 T C 7: 100,223,702 (GRCm39) N14S probably benign Het
Ncald A G 15: 37,397,512 (GRCm39) F56S probably damaging Het
Or9g3 T C 2: 85,584,251 (GRCm39) probably benign Het
Pals1 G A 12: 78,884,298 (GRCm39) D640N probably damaging Het
Plcd3 A G 11: 102,962,092 (GRCm39) V703A possibly damaging Het
Potefam1 A G 2: 111,030,701 (GRCm39) S403P probably benign Het
Qser1 T C 2: 104,617,702 (GRCm39) I947V probably benign Het
Rdx G A 9: 51,974,905 (GRCm39) A14T probably damaging Het
Rnf213 A G 11: 119,321,175 (GRCm39) D1211G Het
Sbpl T C 17: 24,172,253 (GRCm39) D222G unknown Het
Scn8a C A 15: 100,900,030 (GRCm39) T703K possibly damaging Het
Setbp1 A G 18: 78,902,459 (GRCm39) S403P probably benign Het
Sfmbt2 A G 2: 10,409,267 (GRCm39) S71G probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,775 (GRCm39) probably benign Het
Smco3 C T 6: 136,808,730 (GRCm39) G48D possibly damaging Het
Spag9 T C 11: 93,958,815 (GRCm39) S280P probably benign Het
Thada T C 17: 84,538,515 (GRCm39) T1498A probably benign Het
Tmprss7 T C 16: 45,481,263 (GRCm39) D641G probably damaging Het
Top6bl T C 19: 4,695,714 (GRCm39) I513V possibly damaging Het
Trim43a A G 9: 88,464,404 (GRCm39) D105G probably benign Het
Utp14b T A 1: 78,643,003 (GRCm39) N300K probably benign Het
Vmn2r83 T G 10: 79,327,360 (GRCm39) I656S probably damaging Het
Zfp646 A T 7: 127,480,777 (GRCm39) M985L probably benign Het
Zfp777 A T 6: 48,006,158 (GRCm39) L412Q probably damaging Het
Other mutations in Prss59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03151:Prss59 APN 6 40,902,946 (GRCm39) missense probably damaging 1.00
R0041:Prss59 UTSW 6 40,903,042 (GRCm39) nonsense probably null
R0041:Prss59 UTSW 6 40,903,042 (GRCm39) nonsense probably null
R0686:Prss59 UTSW 6 40,905,452 (GRCm39) missense probably damaging 0.99
R0799:Prss59 UTSW 6 40,905,533 (GRCm39) missense probably damaging 0.97
R1250:Prss59 UTSW 6 40,902,909 (GRCm39) critical splice donor site probably null
R1499:Prss59 UTSW 6 40,898,652 (GRCm39) missense probably benign 0.26
R1678:Prss59 UTSW 6 40,906,453 (GRCm39) start gained probably benign
R1755:Prss59 UTSW 6 40,903,096 (GRCm39) missense probably damaging 0.99
R1891:Prss59 UTSW 6 40,902,967 (GRCm39) missense possibly damaging 0.73
R3160:Prss59 UTSW 6 40,903,003 (GRCm39) missense probably benign 0.05
R3162:Prss59 UTSW 6 40,903,003 (GRCm39) missense probably benign 0.05
R4194:Prss59 UTSW 6 40,898,005 (GRCm39) missense probably damaging 1.00
R4750:Prss59 UTSW 6 40,897,955 (GRCm39) missense probably damaging 1.00
R6197:Prss59 UTSW 6 40,897,939 (GRCm39) missense probably benign 0.05
R6217:Prss59 UTSW 6 40,903,019 (GRCm39) missense possibly damaging 0.88
R6394:Prss59 UTSW 6 40,898,726 (GRCm39) nonsense probably null
R7966:Prss59 UTSW 6 40,903,022 (GRCm39) missense probably benign 0.02
R7991:Prss59 UTSW 6 40,905,444 (GRCm39) critical splice donor site probably null
R8937:Prss59 UTSW 6 40,902,999 (GRCm39) nonsense probably null
R9354:Prss59 UTSW 6 40,905,473 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTAAGTGTCTGGTGATCGATC -3'
(R):5'- TGGCTACTGTTACATGCCATATCG -3'

Sequencing Primer
(F):5'- GTGTGTGTCTGAATAAACAAGTTTG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2021-10-11