Incidental Mutation 'R7446:Prss46'
ID 577303
Institutional Source Beutler Lab
Gene Symbol Prss46
Ensembl Gene ENSMUSG00000049719
Gene Name serine protease 46
Synonyms 1700112C13Rik
MMRRC Submission 045522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7446 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110673574-110685586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110679189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 130 (D130G)
Ref Sequence ENSEMBL: ENSMUSP00000135787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119427] [ENSMUST00000176403]
AlphaFold Q5M8S2
Predicted Effect probably damaging
Transcript: ENSMUST00000119427
AA Change: D127G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719
AA Change: D127G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 40 273 1.62e-60 SMART
transmembrane domain 288 310 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176403
AA Change: D130G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719
AA Change: D130G

DomainStartEndE-ValueType
Tryp_SPc 43 276 1.62e-60 SMART
transmembrane domain 291 313 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,950,441 (GRCm39) D1446G probably benign Het
Adgrg1 A G 8: 95,738,412 (GRCm39) Y635C probably damaging Het
Akr1cl G A 1: 65,055,837 (GRCm39) R222W probably damaging Het
C2 G A 17: 35,094,986 (GRCm39) R250C probably damaging Het
Cdk15 A G 1: 59,328,854 (GRCm39) Y254C probably damaging Het
Celsr1 T C 15: 85,791,874 (GRCm39) T2576A possibly damaging Het
Cfap61 C T 2: 145,995,758 (GRCm39) R1108C probably benign Het
Clca3a1 A G 3: 144,733,188 (GRCm39) S107P possibly damaging Het
Cplane1 A G 15: 8,261,564 (GRCm39) D2460G probably damaging Het
Cpsf1 A G 15: 76,485,950 (GRCm39) S407P probably benign Het
Crisp4 T C 1: 18,192,962 (GRCm39) T252A probably damaging Het
Ctbs A G 3: 146,164,573 (GRCm39) Y242C probably damaging Het
Cul4a A G 8: 13,186,874 (GRCm39) T537A probably benign Het
D930020B18Rik T C 10: 121,503,650 (GRCm39) I275T possibly damaging Het
Dcaf7 T C 11: 105,944,561 (GRCm39) V248A probably benign Het
Def8 T C 8: 124,181,061 (GRCm39) C153R probably damaging Het
Dennd1a A T 2: 37,706,991 (GRCm39) V505D possibly damaging Het
Dpysl5 A C 5: 30,936,231 (GRCm39) D207A probably benign Het
Dync2h1 A T 9: 7,041,720 (GRCm39) S3307R probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Erf A T 7: 24,945,556 (GRCm39) C72S probably damaging Het
Fastkd3 A T 13: 68,740,079 (GRCm39) H47L unknown Het
Gm5591 C T 7: 38,218,933 (GRCm39) E647K probably benign Het
Gng12 TGTCCAGCAAG TG 6: 66,992,736 (GRCm39) probably benign Het
Guk1 T C 11: 59,076,850 (GRCm39) T78A probably benign Het
Hephl1 T C 9: 15,009,347 (GRCm39) T82A probably damaging Het
Htra4 A G 8: 25,527,181 (GRCm39) S205P probably benign Het
Jakmip2 T C 18: 43,710,390 (GRCm39) D271G probably damaging Het
Krt16 CAGTATCTG C 11: 100,137,610 (GRCm39) probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Lrp2 C A 2: 69,262,557 (GRCm39) G4415W probably damaging Het
Lrp2 C T 2: 69,290,018 (GRCm39) R3607H probably damaging Het
Mcph1 A G 8: 18,721,109 (GRCm39) K646E probably benign Het
Mgam T C 6: 40,723,266 (GRCm39) L457P probably damaging Het
Mink1 T A 11: 70,500,455 (GRCm39) S802T probably benign Het
Mrgprb5 C T 7: 47,818,252 (GRCm39) G161E possibly damaging Het
Mroh1 G A 15: 76,336,472 (GRCm39) G1565D possibly damaging Het
Mynn A G 3: 30,661,201 (GRCm39) K51R probably benign Het
Myo1b A G 1: 51,803,065 (GRCm39) F872S possibly damaging Het
Nbas A T 12: 13,443,499 (GRCm39) T1185S probably benign Het
Oas1d A T 5: 121,058,054 (GRCm39) I333L probably benign Het
Or10ak9 A T 4: 118,726,019 (GRCm39) I14F possibly damaging Het
Or4d10 A G 19: 12,051,061 (GRCm39) *312Q probably null Het
P2ry12 A G 3: 59,124,632 (GRCm39) *348Q probably null Het
Pik3cb A T 9: 98,928,711 (GRCm39) V848E probably damaging Het
Plcz1 A C 6: 139,959,312 (GRCm39) S282A possibly damaging Het
Pygl T C 12: 70,243,784 (GRCm39) I644V probably benign Het
Ralgds T A 2: 28,435,901 (GRCm39) S509T probably damaging Het
Rdh16f2 A G 10: 127,712,767 (GRCm39) D255G probably benign Het
Scaf4 T C 16: 90,055,658 (GRCm39) D133G unknown Het
Sdk1 G A 5: 142,130,731 (GRCm39) S1630N probably damaging Het
Sema5b C T 16: 35,467,573 (GRCm39) T279I probably damaging Het
Slc24a3 T A 2: 145,422,902 (GRCm39) L207H probably damaging Het
Speer2 A T 16: 69,654,965 (GRCm39) S167T possibly damaging Het
Spock1 A G 13: 57,583,898 (GRCm39) I339T unknown Het
Srsf6 T A 2: 162,776,636 (GRCm39) S327T unknown Het
Syne1 T A 10: 5,172,266 (GRCm39) E5058D probably benign Het
Tcf19 A G 17: 35,825,428 (GRCm39) V243A probably benign Het
Tspan15 T C 10: 62,029,734 (GRCm39) D122G probably benign Het
Ttc17 C T 2: 94,205,495 (GRCm39) V284M probably damaging Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Uspl1 T A 5: 149,141,082 (GRCm39) C360* probably null Het
Vmn1r181 A C 7: 23,684,356 (GRCm39) S274R probably benign Het
Xrcc5 T C 1: 72,433,132 (GRCm39) probably null Het
Zfp277 C T 12: 40,378,729 (GRCm39) R376H probably damaging Het
Zfp629 T C 7: 127,210,201 (GRCm39) E536G probably benign Het
Other mutations in Prss46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03324:Prss46 APN 9 110,678,747 (GRCm39) missense probably benign 0.01
PIT4508001:Prss46 UTSW 9 110,680,484 (GRCm39) missense probably damaging 0.99
PIT4677001:Prss46 UTSW 9 110,685,098 (GRCm39) missense probably benign 0.00
R0013:Prss46 UTSW 9 110,679,123 (GRCm39) missense probably damaging 0.96
R0013:Prss46 UTSW 9 110,679,123 (GRCm39) missense probably damaging 0.96
R0827:Prss46 UTSW 9 110,680,500 (GRCm39) missense probably benign 0.21
R1521:Prss46 UTSW 9 110,678,703 (GRCm39) missense probably benign 0.00
R1532:Prss46 UTSW 9 110,679,236 (GRCm39) missense probably benign 0.00
R4888:Prss46 UTSW 9 110,673,618 (GRCm39) start codon destroyed possibly damaging 0.75
R5201:Prss46 UTSW 9 110,680,543 (GRCm39) nonsense probably null
R5246:Prss46 UTSW 9 110,679,102 (GRCm39) missense probably damaging 1.00
R7196:Prss46 UTSW 9 110,680,533 (GRCm39) missense probably benign 0.38
R7699:Prss46 UTSW 9 110,678,622 (GRCm39) missense probably benign 0.00
R7704:Prss46 UTSW 9 110,679,065 (GRCm39) missense probably damaging 1.00
R7938:Prss46 UTSW 9 110,680,500 (GRCm39) missense probably benign 0.21
R8005:Prss46 UTSW 9 110,685,144 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGAGCCTATCACTCAGAACC -3'
(R):5'- TGAGTGAGTGACCCCATGAC -3'

Sequencing Primer
(F):5'- GGAGCCTATCACTCAGAACCTTATTG -3'
(R):5'- TGACCGTGTTCTGCAAAGAC -3'
Posted On 2019-10-07