Incidental Mutation 'R5275:Prss54'
ID 475484
Institutional Source Beutler Lab
Gene Symbol Prss54
Ensembl Gene ENSMUSG00000048400
Gene Name serine protease 54
Synonyms 4931432M23Rik
MMRRC Submission 042838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5275 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96285694-96302965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96291106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 165 (T165A)
Ref Sequence ENSEMBL: ENSMUSP00000058859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000213096]
AlphaFold Q7M756
Predicted Effect probably damaging
Transcript: ENSMUST00000052690
AA Change: T165A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: T165A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 28 253 1.88e-15 SMART
low complexity region 348 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180075
AA Change: T165A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: T165A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 28 253 1.63e-15 SMART
low complexity region 348 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212513
Predicted Effect probably damaging
Transcript: ENSMUST00000213096
AA Change: T165A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.1118 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Abcc1 C T 16: 14,284,050 (GRCm39) L1222F probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Apold1 G T 6: 134,960,763 (GRCm39) L72F probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Becn2 A G 1: 175,748,336 (GRCm39) H134R probably benign Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Chd6 A G 2: 160,811,283 (GRCm39) L1440P probably benign Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Cma1 A T 14: 56,179,157 (GRCm39) I233N probably damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Dst T C 1: 34,219,229 (GRCm39) S1890P probably benign Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm5117 T A 8: 32,229,595 (GRCm39) noncoding transcript Het
H2-T5 T C 17: 36,472,567 (GRCm39) probably null Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Opa1 C T 16: 29,430,397 (GRCm39) T451I probably damaging Het
Or2bd2 A T 7: 6,443,015 (GRCm39) T39S probably benign Het
Or4f15 T A 2: 111,814,174 (GRCm39) I82F probably damaging Het
Or4k1 T A 14: 50,377,953 (GRCm39) I48F probably benign Het
Pcdh12 T A 18: 38,417,154 (GRCm39) probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Ppan T A 9: 20,801,069 (GRCm39) Y115* probably null Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Ptpn20 A G 14: 33,353,149 (GRCm39) H296R probably benign Het
Rergl A G 6: 139,478,819 (GRCm39) probably null Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Scfd1 A T 12: 51,462,372 (GRCm39) H409L probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Slc24a5 C T 2: 124,927,781 (GRCm39) T360I probably benign Het
Snx6 T C 12: 54,830,807 (GRCm39) H51R probably damaging Het
Sorl1 A T 9: 41,942,198 (GRCm39) V1009D probably benign Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Tlk1 C T 2: 70,582,549 (GRCm39) probably benign Het
Tnc G A 4: 63,882,967 (GRCm39) Q1885* probably null Het
Vcl T C 14: 21,060,146 (GRCm39) V595A probably damaging Het
Vmn1r84 A T 7: 12,095,741 (GRCm39) N305K probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Other mutations in Prss54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Prss54 APN 8 96,292,237 (GRCm39) missense probably benign 0.17
IGL02598:Prss54 APN 8 96,292,337 (GRCm39) missense probably damaging 0.99
IGL03085:Prss54 APN 8 96,292,258 (GRCm39) missense probably benign 0.02
R0324:Prss54 UTSW 8 96,292,295 (GRCm39) missense probably benign 0.00
R0733:Prss54 UTSW 8 96,286,368 (GRCm39) missense possibly damaging 0.90
R1487:Prss54 UTSW 8 96,286,276 (GRCm39) missense probably benign 0.01
R2272:Prss54 UTSW 8 96,297,735 (GRCm39) nonsense probably null
R4769:Prss54 UTSW 8 96,286,003 (GRCm39) missense probably benign
R5295:Prss54 UTSW 8 96,291,106 (GRCm39) missense probably damaging 1.00
R6117:Prss54 UTSW 8 96,292,086 (GRCm39) splice site probably null
R6167:Prss54 UTSW 8 96,286,173 (GRCm39) missense possibly damaging 0.71
R6791:Prss54 UTSW 8 96,291,283 (GRCm39) splice site probably null
R7179:Prss54 UTSW 8 96,292,199 (GRCm39) missense probably benign 0.03
R7261:Prss54 UTSW 8 96,286,367 (GRCm39) missense probably benign 0.02
R7864:Prss54 UTSW 8 96,286,297 (GRCm39) missense probably benign 0.22
R8284:Prss54 UTSW 8 96,285,994 (GRCm39) nonsense probably null
R8318:Prss54 UTSW 8 96,291,094 (GRCm39) missense probably damaging 0.99
R8747:Prss54 UTSW 8 96,286,351 (GRCm39) missense probably benign 0.05
R8780:Prss54 UTSW 8 96,286,057 (GRCm39) missense probably benign
R9004:Prss54 UTSW 8 96,292,137 (GRCm39) missense possibly damaging 0.62
Z1177:Prss54 UTSW 8 96,291,079 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCCCTTTGTCCAGTAAGG -3'
(R):5'- CCAGATTCAGGGTCAAAGCG -3'

Sequencing Primer
(F):5'- TCGGGTGCAACTCATGATGAC -3'
(R):5'- GCGAAGAGCTAGTTTTCAGTAAAATC -3'
Posted On 2017-04-28