Incidental Mutation 'IGL02140:Pcsk9'
ID281517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcsk9
Ensembl Gene ENSMUSG00000044254
Gene Nameproprotein convertase subtilisin/kexin type 9
SynonymsNarc1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02140
Quality Score
Status
Chromosome4
Chromosomal Location106442329-106464329 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106454646 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 178 (D178G)
Ref Sequence ENSEMBL: ENSMUSP00000055757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049507]
Predicted Effect probably benign
Transcript: ENSMUST00000049507
AA Change: D178G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055757
Gene: ENSMUSG00000044254
AA Change: D178G

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:Peptidase_S8 180 438 3.1e-34 PFAM
low complexity region 471 481 N/A INTRINSIC
low complexity region 490 500 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
B3gat1 A G 9: 26,757,747 K325E possibly damaging Het
Cd36 T A 5: 17,828,768 probably benign Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Defa27 A T 8: 21,315,658 K13* probably null Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Nup37 A C 10: 88,158,929 K118T probably benign Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Pkp3 T G 7: 141,089,336 L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Timd4 T A 11: 46,820,014 S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in Pcsk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02709:Pcsk9 APN 4 106447689 splice site probably benign
IGL02804:Pcsk9 APN 4 106456964 missense probably damaging 1.00
IGL02850:Pcsk9 APN 4 106458865 missense probably damaging 1.00
IGL03009:Pcsk9 APN 4 106454345 missense probably damaging 1.00
IGL03294:Pcsk9 APN 4 106446770 missense probably benign
R0271:Pcsk9 UTSW 4 106449049 splice site probably benign
R0321:Pcsk9 UTSW 4 106444694 missense probably benign
R0413:Pcsk9 UTSW 4 106454341 missense probably damaging 1.00
R0426:Pcsk9 UTSW 4 106450077 missense possibly damaging 0.77
R0783:Pcsk9 UTSW 4 106450117 missense probably benign 0.00
R2136:Pcsk9 UTSW 4 106446770 missense probably benign 0.00
R4056:Pcsk9 UTSW 4 106444702 missense probably benign 0.02
R4438:Pcsk9 UTSW 4 106458959 missense probably benign 0.00
R4683:Pcsk9 UTSW 4 106458895 missense possibly damaging 0.59
R4739:Pcsk9 UTSW 4 106447156 missense probably damaging 1.00
R4801:Pcsk9 UTSW 4 106447569 missense probably benign 0.43
R4802:Pcsk9 UTSW 4 106447569 missense probably benign 0.43
R5249:Pcsk9 UTSW 4 106463753 missense probably benign 0.01
R5307:Pcsk9 UTSW 4 106447174 missense probably damaging 1.00
R5320:Pcsk9 UTSW 4 106463791 missense probably benign 0.00
R5653:Pcsk9 UTSW 4 106458916 missense probably damaging 1.00
R5827:Pcsk9 UTSW 4 106448947 missense probably damaging 1.00
R6010:Pcsk9 UTSW 4 106454272 missense possibly damaging 0.92
R6019:Pcsk9 UTSW 4 106456876 missense probably benign 0.02
R6393:Pcsk9 UTSW 4 106447596 missense probably benign 0.00
R7472:Pcsk9 UTSW 4 106458897 missense probably benign 0.08
R7614:Pcsk9 UTSW 4 106447566 missense probably benign 0.34
R7807:Pcsk9 UTSW 4 106463895 missense possibly damaging 0.73
R8036:Pcsk9 UTSW 4 106454339 missense possibly damaging 0.88
Z1176:Pcsk9 UTSW 4 106458941 missense probably damaging 0.96
Posted On2015-04-16