Incidental Mutation 'R1308:Prss47'
ID 157862
Institutional Source Beutler Lab
Gene Symbol Prss47
Ensembl Gene ENSMUSG00000090658
Gene Name serine protease 47
Synonyms Gm274, LOC218304
MMRRC Submission 039374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 65192420-65200574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65199630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 83 (H83R)
Ref Sequence ENSEMBL: ENSMUSP00000145196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182457] [ENSMUST00000203968] [ENSMUST00000222769]
AlphaFold A0A0N4SVQ0
Predicted Effect probably benign
Transcript: ENSMUST00000168201
AA Change: H11R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129006
Gene: ENSMUSG00000090658
AA Change: H11R

DomainStartEndE-ValueType
Tryp_SPc 26 264 1.5e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182457
AA Change: H11R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145271
Gene: ENSMUSG00000090658
AA Change: H11R

DomainStartEndE-ValueType
Tryp_SPc 26 264 1.5e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203968
AA Change: H83R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145196
Gene: ENSMUSG00000090658
AA Change: H83R

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Jph1 A G 1: 17,161,918 (GRCm39) I248T probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
R3hdml G T 2: 163,344,319 (GRCm39) C236F probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tekt2 A T 4: 126,218,711 (GRCm39) L14H probably damaging Het
Tnpo2 T C 8: 85,781,982 (GRCm39) F857S probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A probably damaging Het
Other mutations in Prss47
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0900:Prss47 UTSW 13 65,197,208 (GRCm39) missense possibly damaging 0.72
R1113: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'- AGGGCTCCTGATAAAGCAAACTCAC -3'
(R):5'- CCCTTGCCAGGACTGCTTAAAGATG -3'

Sequencing Primer
(F):5'- TCCTGATAAAGCAAACTCACTTTCG -3'
(R):5'- CTTTTCATGTCAGTGAAAGCAGAGAC -3'
Posted On 2014-02-18