Incidental Mutation 'IGL02709:Pcsk9'
ID 304515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcsk9
Ensembl Gene ENSMUSG00000044254
Gene Name proprotein convertase subtilisin/kexin type 9
Synonyms Narc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02709
Quality Score
Chromosome 4
Chromosomal Location 106299531-106321522 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 106304886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049507]
AlphaFold Q80W65
Predicted Effect probably benign
Transcript: ENSMUST00000049507
SMART Domains Protein: ENSMUSP00000055757
Gene: ENSMUSG00000044254

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Pcsk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02140:Pcsk9 APN 4 106,311,843 (GRCm39) missense probably benign 0.00
IGL02804:Pcsk9 APN 4 106,314,161 (GRCm39) missense probably damaging 1.00
IGL02850:Pcsk9 APN 4 106,316,062 (GRCm39) missense probably damaging 1.00
IGL03009:Pcsk9 APN 4 106,311,542 (GRCm39) missense probably damaging 1.00
IGL03294:Pcsk9 APN 4 106,303,967 (GRCm39) missense probably benign
R0271:Pcsk9 UTSW 4 106,306,246 (GRCm39) splice site probably benign
R0321:Pcsk9 UTSW 4 106,301,891 (GRCm39) missense probably benign
R0413:Pcsk9 UTSW 4 106,311,538 (GRCm39) missense probably damaging 1.00
R0426:Pcsk9 UTSW 4 106,307,274 (GRCm39) missense possibly damaging 0.77
R0783:Pcsk9 UTSW 4 106,307,314 (GRCm39) missense probably benign 0.00
R2136:Pcsk9 UTSW 4 106,303,967 (GRCm39) missense probably benign 0.00
R4056:Pcsk9 UTSW 4 106,301,899 (GRCm39) missense probably benign 0.02
R4438:Pcsk9 UTSW 4 106,316,156 (GRCm39) missense probably benign 0.00
R4683:Pcsk9 UTSW 4 106,316,092 (GRCm39) missense possibly damaging 0.59
R4739:Pcsk9 UTSW 4 106,304,353 (GRCm39) missense probably damaging 1.00
R4801:Pcsk9 UTSW 4 106,304,766 (GRCm39) missense probably benign 0.43
R4802:Pcsk9 UTSW 4 106,304,766 (GRCm39) missense probably benign 0.43
R5249:Pcsk9 UTSW 4 106,320,950 (GRCm39) missense probably benign 0.01
R5307:Pcsk9 UTSW 4 106,304,371 (GRCm39) missense probably damaging 1.00
R5320:Pcsk9 UTSW 4 106,320,988 (GRCm39) missense probably benign 0.00
R5653:Pcsk9 UTSW 4 106,316,113 (GRCm39) missense probably damaging 1.00
R5827:Pcsk9 UTSW 4 106,306,144 (GRCm39) missense probably damaging 1.00
R6010:Pcsk9 UTSW 4 106,311,469 (GRCm39) missense possibly damaging 0.92
R6019:Pcsk9 UTSW 4 106,314,073 (GRCm39) missense probably benign 0.02
R6393:Pcsk9 UTSW 4 106,304,793 (GRCm39) missense probably benign 0.00
R7472:Pcsk9 UTSW 4 106,316,094 (GRCm39) missense probably benign 0.08
R7614:Pcsk9 UTSW 4 106,304,763 (GRCm39) missense probably benign 0.34
R7807:Pcsk9 UTSW 4 106,321,092 (GRCm39) missense possibly damaging 0.73
R8036:Pcsk9 UTSW 4 106,311,536 (GRCm39) missense possibly damaging 0.88
R8735:Pcsk9 UTSW 4 106,311,808 (GRCm39) missense probably damaging 1.00
R9258:Pcsk9 UTSW 4 106,316,047 (GRCm39) missense possibly damaging 0.63
R9404:Pcsk9 UTSW 4 106,311,723 (GRCm39) missense probably damaging 1.00
R9684:Pcsk9 UTSW 4 106,307,386 (GRCm39) missense probably benign 0.29
Z1176:Pcsk9 UTSW 4 106,316,138 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16