Incidental Mutation 'R0900:Prss47'
ID 83853
Institutional Source Beutler Lab
Gene Symbol Prss47
Ensembl Gene ENSMUSG00000090658
Gene Name serine protease 47
Synonyms Gm274, LOC218304
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0900 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 65192420-65200574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65197208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 176 (V176G)
Ref Sequence ENSEMBL: ENSMUSP00000145196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182457] [ENSMUST00000203968] [ENSMUST00000222769]
AlphaFold A0A0N4SVQ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000168201
AA Change: V104G

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129006
Gene: ENSMUSG00000090658
AA Change: V104G

DomainStartEndE-ValueType
Tryp_SPc 26 264 1.5e-78 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182457
AA Change: V104G

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145271
Gene: ENSMUSG00000090658
AA Change: V104G

DomainStartEndE-ValueType
Tryp_SPc 26 264 1.5e-78 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203968
AA Change: V176G

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145196
Gene: ENSMUSG00000090658
AA Change: V176G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Tryp_SPc 98 336 3.13e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220767
Predicted Effect probably benign
Transcript: ENSMUST00000222769
AA Change: V82G

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,904,359 (GRCm39) F144I probably damaging Het
Als2cl A G 9: 110,719,496 (GRCm39) R468G possibly damaging Het
Arsk C A 13: 76,246,576 (GRCm39) probably benign Het
Cacna1d T C 14: 29,833,039 (GRCm39) H912R probably damaging Het
Ccr1 A T 9: 123,764,371 (GRCm39) V53D possibly damaging Het
Cfap91 G A 16: 38,156,764 (GRCm39) S47L possibly damaging Het
Clec2d G A 6: 129,160,076 (GRCm39) R30K probably benign Het
Col12a1 A G 9: 79,591,535 (GRCm39) V975A possibly damaging Het
Col4a1 AGCCAGGGATGCCAGG AGCCAGG 8: 11,268,014 (GRCm39) probably benign Het
Cul7 T C 17: 46,969,263 (GRCm39) S907P probably benign Het
Depdc1b A T 13: 108,498,794 (GRCm39) H159L possibly damaging Het
Dhx57 T C 17: 80,583,011 (GRCm39) H198R probably benign Het
Dpp7 T C 2: 25,246,311 (GRCm39) D10G probably damaging Het
Esp18 G A 17: 39,719,023 (GRCm39) M7I possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam167a A G 14: 63,689,828 (GRCm39) T42A probably damaging Het
Gm973 A G 1: 59,605,827 (GRCm39) R553G probably benign Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Jag1 CTTT CTTTT 2: 136,932,802 (GRCm39) probably null Het
Limk2 A G 11: 3,300,731 (GRCm39) F204L probably damaging Het
Lmo7 A G 14: 102,124,624 (GRCm39) D361G probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Or52e2 T A 7: 102,804,520 (GRCm39) M145L probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh18 A T 3: 49,711,252 (GRCm39) F21Y probably benign Het
Pcna-ps2 T A 19: 9,261,487 (GRCm39) Y249N probably damaging Het
Prkce A T 17: 86,932,886 (GRCm39) D622V probably damaging Het
Prss55 C T 14: 64,314,627 (GRCm39) R181H probably benign Het
Prtg A T 9: 72,752,225 (GRCm39) I204L probably benign Het
Pura T C 18: 36,420,720 (GRCm39) I169T probably damaging Het
Rttn C T 18: 89,119,815 (GRCm39) T1750I probably benign Het
Slc25a26 T A 6: 94,484,639 (GRCm39) S60T probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem94 T A 11: 115,682,804 (GRCm39) C614S probably benign Het
Trim12a T C 7: 103,953,469 (GRCm39) N214S probably benign Het
Ube3c T C 5: 29,806,344 (GRCm39) Y329H probably benign Het
Ubxn2a T C 12: 4,952,257 (GRCm39) K2E probably damaging Het
Unc80 A T 1: 66,710,757 (GRCm39) E2675D probably benign Het
Usf3 C T 16: 44,036,321 (GRCm39) P267L probably benign Het
Vmn1r129 A T 7: 21,094,635 (GRCm39) Y194* probably null Het
Zfp750 T C 11: 121,403,807 (GRCm39) E356G probably benign Het
Other mutations in Prss47
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1113:Prss47 UTSW 13 65,199,630 (GRCm39) missense probably benign 0.00
R1308:Prss47 UTSW 13 65,199,630 (GRCm39) missense probably benign 0.00
R1472:Prss47 UTSW 13 65,197,103 (GRCm39) missense probably damaging 1.00
R1561:Prss47 UTSW 13 65,194,062 (GRCm39) missense probably damaging 0.97
R2021:Prss47 UTSW 13 65,199,591 (GRCm39) missense probably benign 0.08
R2165:Prss47 UTSW 13 65,192,887 (GRCm39) missense probably damaging 0.98
R5655:Prss47 UTSW 13 65,192,857 (GRCm39) missense probably damaging 1.00
R6044:Prss47 UTSW 13 65,197,120 (GRCm39) nonsense probably null
R6395:Prss47 UTSW 13 65,197,116 (GRCm39) missense probably benign 0.05
R7196:Prss47 UTSW 13 65,192,640 (GRCm39) missense probably benign 0.08
R7250:Prss47 UTSW 13 65,200,355 (GRCm39) missense probably benign 0.10
R7394:Prss47 UTSW 13 65,192,807 (GRCm39) missense probably benign 0.11
R7443:Prss47 UTSW 13 65,197,303 (GRCm39) missense probably damaging 1.00
Z1177:Prss47 UTSW 13 65,199,577 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTTCAGAAAGCATTCCCCAACC -3'
(R):5'- TTGACTGTCAGAAATGCGGAGACC -3'

Sequencing Primer
(F):5'- CCAGTTATCCAACAGGATGTGTG -3'
(R):5'- CCAGTGATACACGAGGATGC -3'
Posted On 2013-11-08