Incidental Mutation 'R4769:Prss54'
ID 366342
Institutional Source Beutler Lab
Gene Symbol Prss54
Ensembl Gene ENSMUSG00000048400
Gene Name serine protease 54
Synonyms 4931432M23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4769 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96285694-96302965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96286003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 357 (V357L)
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 probably benign
Transcript: ENSMUST00000052690
AA Change: V357L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: V357L

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 benign
Transcript: ENSMUST00000180075
AA Change: V357L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: V357L

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 benign
Transcript: ENSMUST00000213096
AA Change: V357L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,382,174 (GRCm39) S1264A probably benign Het
Adamts13 T G 2: 26,898,723 (GRCm39) Y1361* probably null Het
Ahrr A T 13: 74,362,331 (GRCm39) D389E probably damaging Het
Alx3 T C 3: 107,508,007 (GRCm39) F172S probably damaging Het
Antxrl A G 14: 33,795,027 (GRCm39) H485R possibly damaging Het
Aox4 A G 1: 58,298,307 (GRCm39) D1091G probably null Het
Btbd1 T A 7: 81,455,558 (GRCm39) Q271L probably benign Het
Cd209c A T 8: 3,994,953 (GRCm39) N70K probably benign Het
Cdc14a C T 3: 116,088,399 (GRCm39) probably null Het
Cenpe A G 3: 134,953,912 (GRCm39) M1641V probably benign Het
Clec2e G A 6: 129,077,790 (GRCm39) T16I probably benign Het
Clp1 T C 2: 84,556,219 (GRCm39) D87G possibly damaging Het
Dpy19l1 A T 9: 24,337,444 (GRCm39) F517I probably damaging Het
Dzip3 T C 16: 48,758,837 (GRCm39) N646S probably damaging Het
Ephx1 T A 1: 180,823,543 (GRCm39) Y188F possibly damaging Het
Etfa A T 9: 55,403,051 (GRCm39) H81Q possibly damaging Het
Gigyf2 T A 1: 87,368,571 (GRCm39) F1084I probably damaging Het
Heatr3 T C 8: 88,868,411 (GRCm39) probably null Het
Ift81 G T 5: 122,732,656 (GRCm39) H293N probably benign Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Il6 T G 5: 30,223,076 (GRCm39) L114* probably null Het
Ism2 A T 12: 87,346,355 (GRCm39) M42K probably benign Het
Lhx5 A G 5: 120,574,503 (GRCm39) E269G probably benign Het
Marveld1 T G 19: 42,136,434 (GRCm39) M116R possibly damaging Het
Micall2 A G 5: 139,692,641 (GRCm39) S911P probably damaging Het
Mier1 G A 4: 102,997,417 (GRCm39) R195H probably benign Het
Muc2 T A 7: 141,286,260 (GRCm39) probably null Het
Mybbp1a A G 11: 72,336,466 (GRCm39) K486R probably damaging Het
Ncapd2 A C 6: 125,162,708 (GRCm39) L179R probably damaging Het
Nos1 C T 5: 118,081,310 (GRCm39) Q1171* probably null Het
Nrg1 T A 8: 32,408,000 (GRCm39) I78F probably damaging Het
Or5d36 T G 2: 87,901,073 (GRCm39) T218P probably benign Het
Or6y1 T G 1: 174,276,524 (GRCm39) F112V possibly damaging Het
Plek2 C T 12: 78,953,664 (GRCm39) probably null Het
Plod2 A G 9: 92,477,325 (GRCm39) H339R probably damaging Het
Pold1 C T 7: 44,184,495 (GRCm39) C835Y probably damaging Het
Polr1a A G 6: 71,927,852 (GRCm39) I868V probably benign Het
Rbbp8 T A 18: 11,855,727 (GRCm39) S625T probably damaging Het
Rgs1 A T 1: 144,123,667 (GRCm39) L86Q probably damaging Het
Ripk4 T A 16: 97,545,262 (GRCm39) N462Y probably damaging Het
Rsf1 C T 7: 97,325,429 (GRCm39) L1011F probably damaging Het
Slc19a3 G A 1: 82,997,062 (GRCm39) T382I probably damaging Het
Slc9a2 G A 1: 40,765,534 (GRCm39) R308Q probably damaging Het
Top2b T A 14: 16,398,991 (GRCm38) L537Q probably damaging Het
Trim45 C A 3: 100,839,050 (GRCm39) probably benign Het
Umodl1 G T 17: 31,202,976 (GRCm39) R443M possibly damaging Het
Vmn1r11 G A 6: 57,114,597 (GRCm39) R87K probably damaging Het
Vmn1r78 T A 7: 11,886,725 (GRCm39) I112N probably damaging Het
Zeb2 T G 2: 44,886,447 (GRCm39) E825A probably damaging Het
Zfp930 A T 8: 69,679,344 (GRCm39) I50F probably benign 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
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
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'- AAAGTGACCTTCCCACATATGG -3'
(R):5'- TACCTATGCTGAATGGCCCC -3'

Sequencing Primer
(F):5'- CCACATATGGGAGTGGGACAG -3'
(R):5'- ATGCTGAATGGCCCCACTCC -3'
Posted On 2015-12-21