Incidental Mutation 'R8841:Prss50'
ID 674427
Institutional Source Beutler Lab
Gene Symbol Prss50
Ensembl Gene ENSMUSG00000048752
Gene Name serine protease 50
Synonyms Tsp50
MMRRC Submission 068732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R8841 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110687035-110693697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110687480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 141 (D141G)
Ref Sequence ENSEMBL: ENSMUSP00000059668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051097] [ENSMUST00000119427] [ENSMUST00000176403]
AlphaFold Q8BLH5
Predicted Effect probably benign
Transcript: ENSMUST00000051097
AA Change: D141G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752
AA Change: D141G

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 probably benign
Transcript: ENSMUST00000119427
SMART Domains Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 40 273 1.62e-60 SMART
transmembrane domain 288 310 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176403
SMART Domains Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719

DomainStartEndE-ValueType
Tryp_SPc 43 276 1.62e-60 SMART
transmembrane domain 291 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196027
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,143,925 (GRCm39) probably benign Het
Chaf1b C T 16: 93,701,908 (GRCm39) T510I probably benign Het
Chrd T A 16: 20,554,487 (GRCm39) probably benign Het
Dennd2d A G 3: 106,393,580 (GRCm39) Q11R probably benign Het
Dmrta1 A C 4: 89,579,950 (GRCm39) R303S probably benign Het
Emsy A G 7: 98,264,768 (GRCm39) I543T possibly damaging Het
Fbxw2 G A 2: 34,712,844 (GRCm39) probably benign Het
Fndc1 A G 17: 7,992,181 (GRCm39) V505A unknown Het
Foxf1 T C 8: 121,811,919 (GRCm39) V261A probably damaging Het
Fyb1 T C 15: 6,681,972 (GRCm39) V773A probably damaging Het
Gask1b A G 3: 79,794,426 (GRCm39) E298G probably benign Het
Glp2r G T 11: 67,653,555 (GRCm39) P77T probably damaging Het
Gpam C A 19: 55,066,950 (GRCm39) D522Y probably damaging Het
Hpgd T A 8: 56,760,709 (GRCm39) N135K probably damaging Het
Hsph1 T A 5: 149,550,789 (GRCm39) R437W probably damaging Het
Kif1c G A 11: 70,615,659 (GRCm39) V588I probably benign Het
Klhdc4 T A 8: 122,523,380 (GRCm39) E554V possibly damaging Het
Krt33a A G 11: 99,904,961 (GRCm39) S182P probably damaging Het
Lad1 A G 1: 135,754,970 (GRCm39) D82G probably benign Het
Lin7a A G 10: 107,218,524 (GRCm39) R145G possibly damaging Het
Lmna A G 3: 88,391,920 (GRCm39) probably null Het
Lrrc8b T C 5: 105,628,188 (GRCm39) V178A probably benign Het
Lrwd1 T C 5: 136,152,037 (GRCm39) R647G possibly damaging Het
Mapt A G 11: 104,201,203 (GRCm39) E153G probably damaging Het
Mefv C T 16: 3,528,842 (GRCm39) C563Y probably benign Het
Myo7b T C 18: 32,097,490 (GRCm39) N1792S probably benign Het
Nkx6-3 C T 8: 23,646,274 (GRCm39) T148M probably damaging Het
Nomo1 T A 7: 45,707,911 (GRCm39) S573T probably benign Het
Ntrk3 G T 7: 78,005,841 (GRCm39) R507S probably damaging Het
Or2v2 A C 11: 49,003,938 (GRCm39) I205S probably benign Het
Or4k15 T A 14: 50,364,666 (GRCm39) F211I probably damaging Het
Or52e5 T A 7: 104,719,479 (GRCm39) N268K possibly damaging Het
Or6c200-ps1 A G 10: 128,870,042 (GRCm39) V223A probably benign Het
Or7e168 A T 9: 19,719,885 (GRCm39) R90S probably benign Het
Or8g21 A G 9: 38,905,879 (GRCm39) M284T possibly damaging Het
Pcdhb8 A G 18: 37,488,699 (GRCm39) I126V probably benign Het
Phactr4 A G 4: 132,092,884 (GRCm39) probably null Het
Pign T C 1: 105,485,634 (GRCm39) probably benign Het
Plekhn1 A G 4: 156,316,655 (GRCm39) L342P probably damaging Het
Pomk G A 8: 26,476,407 (GRCm39) A49V probably benign Het
Ralgps1 A C 2: 33,045,329 (GRCm39) F406L probably benign Het
Rexo5 G A 7: 119,448,011 (GRCm39) S752N probably benign Het
Rin3 A T 12: 102,335,537 (GRCm39) I483L probably benign Het
Scn1a T A 2: 66,156,466 (GRCm39) D481V probably benign Het
Scnn1a T C 6: 125,320,208 (GRCm39) I554T probably damaging Het
Shc2 A G 10: 79,458,150 (GRCm39) V511A probably damaging Het
Slc18a2 C T 19: 59,261,713 (GRCm39) S200F probably damaging Het
Slc25a38 A G 9: 119,949,845 (GRCm39) D208G probably damaging Het
Smok3c C A 5: 138,063,537 (GRCm39) D341E probably damaging Het
Tfcp2 A G 15: 100,410,989 (GRCm39) I373T probably damaging Het
Tnpo3 T A 6: 29,589,182 (GRCm39) D56V probably damaging Het
Trrap T A 5: 144,781,021 (GRCm39) Y3261N probably damaging Het
Ttll12 A T 15: 83,465,993 (GRCm39) probably benign Het
Ulk4 A G 9: 121,033,804 (GRCm39) C612R probably damaging Het
Ush1g G T 11: 115,210,007 (GRCm39) D62E probably damaging Het
Vmn2r124 A G 17: 18,283,299 (GRCm39) N331S Het
Vmn2r4 T C 3: 64,314,058 (GRCm39) I308V probably damaging Het
Vwa8 T A 14: 79,184,702 (GRCm39) V400E probably benign Het
Washc2 A G 6: 116,235,916 (GRCm39) D1129G probably benign Het
Washc5 G T 15: 59,206,971 (GRCm39) Q1101K probably damaging Het
Wfdc17 G T 11: 83,594,938 (GRCm39) L7F probably benign Het
Xpo4 T C 14: 57,835,413 (GRCm39) K636R probably damaging Het
Zan T A 5: 137,454,936 (GRCm39) T1367S unknown Het
Zfp691 A T 4: 119,027,861 (GRCm39) S124T probably damaging Het
Other mutations in Prss50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Prss50 APN 9 110,691,474 (GRCm39) missense possibly damaging 0.89
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
R8851:Prss50 UTSW 9 110,687,081 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATTGTGGAGGAACCTAGCGG -3'
(R):5'- AACACTTGTACAGGGACGTTC -3'

Sequencing Primer
(F):5'- TGACTCGCTGGAGACCTTC -3'
(R):5'- GGACGTTCCCTTCTGCTTTTC -3'
Posted On 2021-07-15