Incidental Mutation 'R6167:Prss54'
ID 490193
Institutional Source Beutler Lab
Gene Symbol Prss54
Ensembl Gene ENSMUSG00000048400
Gene Name serine protease 54
Synonyms 4931432M23Rik
MMRRC Submission 044313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6167 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 96285694-96302965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96286173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 300 (P300L)
Ref Sequence ENSEMBL: ENSMUSP00000148608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041569] [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000213096]
AlphaFold Q7M756
Predicted Effect probably benign
Transcript: ENSMUST00000041569
SMART Domains Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598

DomainStartEndE-ValueType
coiled coil region 95 139 N/A INTRINSIC
Pfam:DUF4201 178 354 6.2e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000052690
AA Change: P300L

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: P300L

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 possibly damaging
Transcript: ENSMUST00000180075
AA Change: P300L

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: P300L

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 possibly damaging
Transcript: ENSMUST00000213096
AA Change: P300L

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,182,931 (GRCm39) E1042V probably benign Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Aip T G 19: 4,165,188 (GRCm39) D227A probably benign Het
Ankrd13d T C 19: 4,323,081 (GRCm39) H283R probably damaging Het
Aox4 C T 1: 58,303,094 (GRCm39) T1175I probably damaging Het
Atn1 T C 6: 124,723,700 (GRCm39) probably benign Het
Camkk2 A G 5: 122,902,187 (GRCm39) S41P probably damaging Het
Ceacam16 G A 7: 19,595,182 (GRCm39) probably benign Het
Dcaf15 T C 8: 84,824,626 (GRCm39) N524D possibly damaging Het
Dcaf7 A T 11: 105,928,077 (GRCm39) Y43F probably damaging Het
Epha3 T C 16: 63,433,287 (GRCm39) I453V probably benign Het
Etv1 A T 12: 38,915,640 (GRCm39) T413S possibly damaging Het
Evx2 A C 2: 74,489,606 (GRCm39) L53R probably damaging Het
Fam168b G A 1: 34,858,684 (GRCm39) A166V probably damaging Het
Fancm A T 12: 65,141,669 (GRCm39) Y430F probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gabbr1 T C 17: 37,374,271 (GRCm39) I538T probably damaging Het
Glyctk T A 9: 106,033,691 (GRCm39) T208S possibly damaging Het
Golga7 T C 8: 23,735,904 (GRCm39) D114G probably damaging Het
Grip1 T C 10: 119,733,702 (GRCm39) probably null Het
Gtf2f1 G T 17: 57,311,161 (GRCm39) S351R probably damaging Het
Hook2 T C 8: 85,721,642 (GRCm39) L300P probably damaging Het
Hsf4 A G 8: 105,997,481 (GRCm39) S45G probably damaging Het
Iars1 T A 13: 49,876,190 (GRCm39) M825K probably damaging Het
Kcnj2 A G 11: 110,963,315 (GRCm39) I236V probably benign Het
Large2 G A 2: 92,197,433 (GRCm39) T354I probably benign Het
Mak C A 13: 41,206,828 (GRCm39) V101F probably benign Het
Mylk2 A G 2: 152,757,673 (GRCm39) probably null Het
Myo18b A T 5: 113,020,373 (GRCm39) probably null Het
Neb T A 2: 52,037,249 (GRCm39) H2955L probably benign Het
Neurl1a G C 19: 47,228,367 (GRCm39) G71A probably damaging Het
Ogfrl1 A T 1: 23,415,309 (GRCm39) L142Q probably damaging Het
Or11g27 C A 14: 50,771,612 (GRCm39) H248N probably damaging Het
Or1e27-ps1 A G 11: 73,556,160 (GRCm39) T242A probably damaging Het
P3h4 C A 11: 100,302,671 (GRCm39) A322S probably damaging Het
Piwil2 A C 14: 70,660,342 (GRCm39) probably null Het
Pkd2l2 A G 18: 34,561,297 (GRCm39) D435G probably damaging Het
Plekha6 A G 1: 133,207,145 (GRCm39) N567S probably null Het
Pxdn G A 12: 30,024,000 (GRCm39) R67Q probably damaging Het
Rapgef3 C A 15: 97,665,292 (GRCm39) probably benign Het
Sec24b C T 3: 129,782,550 (GRCm39) G1147S possibly damaging Het
Sh2b3 A T 5: 121,966,418 (GRCm39) probably null Het
Sh3glb1 A T 3: 144,397,664 (GRCm39) D358E probably damaging Het
Shmt2 C T 10: 127,353,731 (GRCm39) R478H probably benign Het
Slc1a6 A G 10: 78,637,671 (GRCm39) E399G probably benign Het
Slc22a23 T A 13: 34,528,542 (GRCm39) Y80F probably damaging Het
Slc25a19 A G 11: 115,506,377 (GRCm39) V272A probably benign Het
Stk32a A T 18: 43,446,474 (GRCm39) D308V probably damaging Het
Tenm3 T C 8: 48,707,657 (GRCm39) I1698V possibly damaging Het
Thoc5 G A 11: 4,865,497 (GRCm39) V359M probably benign Het
Tmpo C T 10: 90,998,800 (GRCm39) R329H probably benign Het
Trim8 T C 19: 46,503,626 (GRCm39) S393P probably benign Het
Vill A T 9: 118,895,932 (GRCm39) Y103F probably damaging Het
Zfp948 T G 17: 21,807,911 (GRCm39) F368V probably benign Het
Zpld1 C T 16: 55,053,962 (GRCm39) E277K 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
R5275:Prss54 UTSW 8 96,291,106 (GRCm39) missense probably damaging 1.00
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
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'- ACGAAGGACATCAAGATCCTTTC -3'
(R):5'- TGGCCTGTTTCTGTACACCAG -3'

Sequencing Primer
(F):5'- TCTTGAGACCAATGCAGCCTG -3'
(R):5'- TCTGTACACCAGTGTGGCAGAC -3'
Posted On 2017-10-10