Incidental Mutation 'R2272:Prss54'
ID242570
Institutional Source Beutler Lab
Gene Symbol Prss54
Ensembl Gene ENSMUSG00000048400
Gene Nameprotease, serine 54
Synonyms4931432M23Rik
MMRRC Submission 040272-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R2272 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location95559069-95576340 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 95571107 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 45 (W45*)
Ref Sequence ENSEMBL: ENSMUSP00000148608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000213096]
Predicted Effect probably null
Transcript: ENSMUST00000052690
AA Change: W45*
SMART Domains Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: W45*

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 null
Transcript: ENSMUST00000180075
AA Change: W45*
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: W45*

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: ENSMUST00000212368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212513
Predicted Effect probably null
Transcript: ENSMUST00000213096
AA Change: W45*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,510,297 E160V probably damaging Het
Ago1 C A 4: 126,453,650 M435I probably benign Het
Apol7b G A 15: 77,423,710 A195V probably damaging Het
Arid3c T A 4: 41,724,744 I364F probably damaging Het
Arntl2 T C 6: 146,822,114 F314S probably damaging Het
Atg2b C T 12: 105,638,008 V1545I probably benign Het
Atp4a C A 7: 30,715,500 S238* probably null Het
Birc6 T C 17: 74,602,971 V1453A probably benign Het
Brinp3 A G 1: 146,901,404 R530G possibly damaging Het
Carnmt1 T C 19: 18,703,370 L336P probably damaging Het
Cdh22 A T 2: 165,143,847 probably null Het
Cdk5rap2 A C 4: 70,266,678 S1178R probably benign Het
Cdkl3 T C 11: 52,032,495 V45A probably benign Het
Cracr2a T A 6: 127,607,298 F107I probably damaging Het
Cyfip1 G T 7: 55,899,957 R624L probably null Het
Ddc T C 11: 11,835,764 N308D probably damaging Het
Dnah10 A G 5: 124,731,466 N195S probably benign Het
Dnah9 T C 11: 66,112,362 D872G probably benign Het
Fam71e2 T A 7: 4,758,187 T509S probably benign Het
Fmo1 A T 1: 162,833,855 D286E probably damaging Het
Fmo4 A T 1: 162,799,047 I310N possibly damaging Het
Gm13088 G A 4: 143,654,142 T437I probably damaging Het
Hydin A T 8: 110,309,132 I152L probably benign Het
Itpr1 T A 6: 108,493,755 C2214S probably damaging Het
Kcnq3 T A 15: 66,028,680 D242V probably damaging Het
Klhl1 T C 14: 96,517,908 D137G probably benign Het
Lama5 T C 2: 180,178,603 D3282G possibly damaging Het
Lhx8 A G 3: 154,316,762 L254S probably damaging Het
Lipa T A 19: 34,510,890 R119* probably null Het
Matn4 A T 2: 164,397,242 C232S possibly damaging Het
Mios C T 6: 8,226,865 R614C possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Muc6 T A 7: 141,637,510 T2417S possibly damaging Het
Mycbp2 T C 14: 103,144,338 H3612R probably null Het
Myo5b G T 18: 74,733,925 L1382F probably damaging Het
Myo7b C T 18: 31,977,043 S1122N probably benign Het
Myo9a T A 9: 59,815,301 F549I probably damaging Het
Ncbp2 T C 16: 31,956,951 Y138H probably damaging Het
Neil1 A G 9: 57,146,785 S84P probably damaging Het
Nfix A G 8: 84,727,175 I256T probably damaging Het
Nlrp4f A T 13: 65,194,408 D474E probably benign Het
Olfr203 T G 16: 59,303,444 M98R possibly damaging Het
Olfr870 T A 9: 20,171,409 H54L possibly damaging Het
Pcnx T C 12: 81,995,314 V2240A probably benign Het
Per3 T A 4: 151,018,885 Y530F probably damaging Het
Pes1 C A 11: 3,969,524 L66I probably damaging Het
Prkdc A G 16: 15,654,817 probably null Het
Prpf8 T A 11: 75,495,363 V946E probably damaging Het
Prrc1 G T 18: 57,381,646 D312Y probably damaging Het
Psg29 A T 7: 17,210,696 N377I probably benign Het
Rab3gap2 T A 1: 185,283,542 probably null Het
Serpinb9c C T 13: 33,154,541 G125E probably damaging Het
Skint4 A G 4: 112,119,868 T152A probably benign Het
Slc26a2 A G 18: 61,198,578 C594R possibly damaging Het
Slc47a2 A T 11: 61,328,526 probably null Het
Ttc39d A G 17: 80,217,246 K445E probably damaging Het
Ttn T A 2: 76,764,520 E20394V probably damaging Het
Ugt2b36 A G 5: 87,066,255 V510A possibly damaging Het
Usf1 T C 1: 171,418,060 L291P possibly damaging Het
Usp7 T C 16: 8,698,469 S649G probably benign Het
Vmn1r172 A C 7: 23,660,191 D167A probably damaging Het
Wnt10b T A 15: 98,774,347 Q163L probably damaging Het
Other mutations in Prss54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Prss54 APN 8 95565609 missense probably benign 0.17
IGL02598:Prss54 APN 8 95565709 missense probably damaging 0.99
IGL03085:Prss54 APN 8 95565630 missense probably benign 0.02
R0324:Prss54 UTSW 8 95565667 missense probably benign 0.00
R0733:Prss54 UTSW 8 95559740 missense possibly damaging 0.90
R1487:Prss54 UTSW 8 95559648 missense probably benign 0.01
R4769:Prss54 UTSW 8 95559375 missense probably benign
R5275:Prss54 UTSW 8 95564478 missense probably damaging 1.00
R5295:Prss54 UTSW 8 95564478 missense probably damaging 1.00
R6117:Prss54 UTSW 8 95565458 splice site probably null
R6167:Prss54 UTSW 8 95559545 missense possibly damaging 0.71
R6791:Prss54 UTSW 8 95564655 intron probably null
R7179:Prss54 UTSW 8 95565571 missense probably benign 0.03
R7261:Prss54 UTSW 8 95559739 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGAGTGAGCTCAGGACCTTG -3'
(R):5'- TCCTGAGGTCTGGGGAAAATG -3'

Sequencing Primer
(F):5'- CTCAGGACCTTGGCGAAAAGTC -3'
(R):5'- GAAAATGGTGGCGCTCAC -3'
Posted On2014-10-16