Incidental Mutation 'R1561:Prss47'
ID 170627
Institutional Source Beutler Lab
Gene Symbol Prss47
Ensembl Gene ENSMUSG00000090658
Gene Name serine protease 47
Synonyms Gm274, LOC218304
MMRRC Submission 039600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1561 (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 T at 65194062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 278 (C278S)
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: C206S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129006
Gene: ENSMUSG00000090658
AA Change: C206S

DomainStartEndE-ValueType
Tryp_SPc 26 264 1.5e-78 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182457
AA Change: C206S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145271
Gene: ENSMUSG00000090658
AA Change: C206S

DomainStartEndE-ValueType
Tryp_SPc 26 264 1.5e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203968
AA Change: C278S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145196
Gene: ENSMUSG00000090658
AA Change: C278S

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 possibly damaging
Transcript: ENSMUST00000222769
AA Change: C184S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,431 (GRCm39) N69D probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Ap1g2 T C 14: 55,342,344 (GRCm39) E171G probably damaging Het
Atg7 T C 6: 114,678,133 (GRCm39) V341A possibly damaging Het
Bace1 G T 9: 45,750,492 (GRCm39) R56L probably benign Het
Cd200l1 A G 16: 45,262,875 (GRCm39) V88A possibly damaging Het
Chfr A T 5: 110,306,674 (GRCm39) D472V probably benign Het
Ckap2l G A 2: 129,112,645 (GRCm39) T621I probably benign Het
Cmip A G 8: 118,180,589 (GRCm39) T554A probably benign Het
Crocc C T 4: 140,757,579 (GRCm39) E905K probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
F5 C A 1: 164,014,472 (GRCm39) S581* probably null Het
Fam227a T A 15: 79,520,963 (GRCm39) Y291F possibly damaging Het
Gpr151 A T 18: 42,712,221 (GRCm39) S152R probably benign Het
Gpr158 A T 2: 21,820,505 (GRCm39) probably null Het
Kcna5 T C 6: 126,511,546 (GRCm39) Y194C probably damaging Het
Khsrp A G 17: 57,332,639 (GRCm39) S214P probably benign Het
Mrgprb1 C G 7: 48,096,873 (GRCm39) probably null Het
Mrnip C T 11: 50,067,676 (GRCm39) T30I probably damaging Het
Mtus2 A C 5: 148,013,362 (GRCm39) K52Q probably benign Het
Naca G T 10: 127,876,267 (GRCm39) probably benign Het
Obscn T G 11: 58,926,899 (GRCm39) T5539P probably damaging Het
Or13p3 T A 4: 118,566,751 (GRCm39) I49N probably damaging Het
Or9m1 C T 2: 87,733,505 (GRCm39) V172I probably benign Het
Ovca2 A G 11: 75,068,805 (GRCm39) L198P probably damaging Het
Pdzrn4 T C 15: 92,575,518 (GRCm39) V308A possibly damaging Het
Pkd1l3 A G 8: 110,341,445 (GRCm39) I99M unknown Het
Polr3b T A 10: 84,470,776 (GRCm39) M139K probably damaging Het
Prkag2 T C 5: 25,076,593 (GRCm39) Y191C probably damaging Het
Ptprm T C 17: 67,247,536 (GRCm39) T600A probably damaging Het
Ruvbl1 T C 6: 88,456,136 (GRCm39) V70A probably damaging Het
Sf3a1 T C 11: 4,129,217 (GRCm39) V726A probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Slc26a3 A G 12: 31,516,451 (GRCm39) N603S probably benign Het
Slc2a1 A G 4: 118,993,606 (GRCm39) E481G possibly damaging Het
Slc35a5 A C 16: 44,971,884 (GRCm39) S127A possibly damaging Het
Spen C A 4: 141,199,694 (GRCm39) G2978* probably null Het
Srrt T A 5: 137,298,281 (GRCm39) E297V probably benign Het
Srsf4 T A 4: 131,625,006 (GRCm39) D134E probably damaging Het
Tdrd6 G A 17: 43,936,515 (GRCm39) S1511L probably damaging Het
Tmem65 T A 15: 58,694,707 (GRCm39) I91F probably benign Het
Top2b A G 14: 16,398,993 (GRCm38) K538E possibly damaging Het
Trappc8 G A 18: 20,974,680 (GRCm39) R883* probably null Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Vav3 T C 3: 109,402,154 (GRCm39) probably null Het
Vmn1r42 C T 6: 89,822,363 (GRCm39) G69S probably damaging Het
Zan A T 5: 137,379,100 (GRCm39) Y5333* probably null Het
Zfp994 A C 17: 22,420,206 (GRCm39) F248V 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
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
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'- TGGCTGTGCCAATTCACTTCAGAC -3'
(R):5'- TCAGAGTAGCCTGGACTTTCCCAAC -3'

Sequencing Primer
(F):5'- TACCAGGAACATGCTTAGTCAG -3'
(R):5'- TGGACTTTCCCAACTAAGCC -3'
Posted On 2014-04-13