Incidental Mutation 'IGL02752:Pcsk2'
ID 304226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcsk2
Ensembl Gene ENSMUSG00000027419
Gene Name proprotein convertase subtilisin/kexin type 2
Synonyms Nec-2, PC2, Phpp-2, SPC2, Nec2, 6330411F23Rik, prohormone convertase 2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL02752
Quality Score
Status
Chromosome 2
Chromosomal Location 143388076-143658205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143615865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 221 (N221S)
Ref Sequence ENSEMBL: ENSMUSP00000028905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028905]
AlphaFold P21661
Predicted Effect probably benign
Transcript: ENSMUST00000028905
AA Change: N221S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028905
Gene: ENSMUSG00000027419
AA Change: N221S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:S8_pro-domain 32 108 2.9e-21 PFAM
Pfam:Peptidase_S8 157 444 5e-44 PFAM
Pfam:P_proprotein 503 590 4.3e-28 PFAM
low complexity region 617 630 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156362
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 protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruptions of this gene display abnormalities in the maturation of peptide hormones leading to reduced female fertility, increased blood pressure on a high salt diet, and abnormal glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,840,042 (GRCm39) E145* probably null Het
Abca9 A G 11: 110,018,194 (GRCm39) F1142S probably damaging Het
Bod1l T C 5: 41,973,806 (GRCm39) T2503A possibly damaging Het
Bpi A G 2: 158,104,344 (GRCm39) D149G probably damaging Het
Cntnap5a A G 1: 116,508,261 (GRCm39) T1258A probably benign Het
Col4a3 A G 1: 82,637,946 (GRCm39) D256G unknown Het
Cul5 T C 9: 53,546,278 (GRCm39) T338A probably damaging Het
Efs A G 14: 55,154,880 (GRCm39) V453A probably damaging Het
Fbxw19 T A 9: 109,323,709 (GRCm39) N89Y probably benign Het
Fbxw8 A G 5: 118,280,815 (GRCm39) F114S probably damaging Het
Flnb A G 14: 7,917,338 (GRCm38) I1606V probably benign Het
Gpr158 A G 2: 21,831,638 (GRCm39) T913A possibly damaging Het
Gtf2f1 A T 17: 57,316,682 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,387,678 (GRCm39) *1059L probably null Het
Hmgb4 T C 4: 128,154,134 (GRCm39) K145E probably damaging Het
Igf2bp2 T A 16: 21,898,860 (GRCm39) M250L probably benign Het
Igkv14-111 A G 6: 68,233,561 (GRCm39) K21E probably benign Het
Il6st C T 13: 112,616,729 (GRCm39) T92I probably damaging Het
Jak3 G T 8: 72,135,595 (GRCm39) V581L possibly damaging Het
Kank2 C T 9: 21,706,329 (GRCm39) V230M probably damaging Het
Kif1a G A 1: 92,967,569 (GRCm39) A1123V possibly damaging Het
Kpna4 T A 3: 69,002,863 (GRCm39) R125* probably null Het
Mybpc3 A T 2: 90,962,982 (GRCm39) probably null Het
Ntn4 T C 10: 93,546,421 (GRCm39) V358A possibly damaging Het
Pacsin1 A T 17: 27,921,672 (GRCm39) probably null Het
Pik3cg A G 12: 32,254,262 (GRCm39) L575P probably damaging Het
Pkhd1 A T 1: 20,623,815 (GRCm39) V760E possibly damaging Het
Plxnc1 T C 10: 94,630,542 (GRCm39) probably null Het
Ppfia1 T C 7: 144,073,341 (GRCm39) T217A probably benign Het
Rictor A G 15: 6,816,852 (GRCm39) T1375A probably benign Het
Scn1a A G 2: 66,161,756 (GRCm39) I264T probably damaging Het
Sez6l2 T C 7: 126,552,905 (GRCm39) S164P probably damaging Het
Slc31a1 C T 4: 62,303,869 (GRCm39) probably benign Het
Slc45a1 T C 4: 150,722,478 (GRCm39) N469D probably benign Het
Slco1a5 T C 6: 142,208,438 (GRCm39) T76A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stfa3 G A 16: 36,270,999 (GRCm39) T95I probably damaging Het
Stk11ip A C 1: 75,501,325 (GRCm39) probably null Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Traf1 A G 2: 34,848,020 (GRCm39) S25P probably benign Het
Ttn G T 2: 76,622,125 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,798,283 (GRCm39) I2041N probably damaging Het
Zfp512b A T 2: 181,229,864 (GRCm39) D556E possibly damaging Het
Zfpm2 T A 15: 40,965,415 (GRCm39) D633E probably benign Het
Other mutations in Pcsk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Pcsk2 APN 2 143,635,159 (GRCm39) missense probably damaging 1.00
IGL01609:Pcsk2 APN 2 143,643,078 (GRCm39) missense possibly damaging 0.88
IGL01690:Pcsk2 APN 2 143,529,490 (GRCm39) missense probably benign
IGL01833:Pcsk2 APN 2 143,529,500 (GRCm39) missense possibly damaging 0.62
IGL01962:Pcsk2 APN 2 143,655,552 (GRCm39) nonsense probably null
IGL02219:Pcsk2 APN 2 143,635,045 (GRCm39) missense probably damaging 1.00
IGL02572:Pcsk2 APN 2 143,532,262 (GRCm39) missense probably damaging 1.00
P0035:Pcsk2 UTSW 2 143,637,871 (GRCm39) missense probably damaging 1.00
R0092:Pcsk2 UTSW 2 143,642,944 (GRCm39) missense probably damaging 1.00
R1424:Pcsk2 UTSW 2 143,415,348 (GRCm39) splice site probably benign
R1470:Pcsk2 UTSW 2 143,388,438 (GRCm39) nonsense probably null
R1470:Pcsk2 UTSW 2 143,388,438 (GRCm39) nonsense probably null
R1832:Pcsk2 UTSW 2 143,635,189 (GRCm39) missense probably damaging 1.00
R1993:Pcsk2 UTSW 2 143,529,539 (GRCm39) missense probably benign 0.00
R4615:Pcsk2 UTSW 2 143,637,889 (GRCm39) missense probably damaging 1.00
R4783:Pcsk2 UTSW 2 143,529,599 (GRCm39) critical splice donor site probably null
R4796:Pcsk2 UTSW 2 143,655,345 (GRCm39) missense probably benign 0.16
R4827:Pcsk2 UTSW 2 143,643,099 (GRCm39) nonsense probably null
R5357:Pcsk2 UTSW 2 143,415,384 (GRCm39) missense probably benign 0.00
R5413:Pcsk2 UTSW 2 143,538,620 (GRCm39) splice site probably null
R5440:Pcsk2 UTSW 2 143,388,463 (GRCm39) missense probably benign 0.22
R5546:Pcsk2 UTSW 2 143,388,480 (GRCm39) missense probably benign 0.00
R5605:Pcsk2 UTSW 2 143,591,165 (GRCm39) intron probably benign
R5821:Pcsk2 UTSW 2 143,591,035 (GRCm39) splice site probably null
R5905:Pcsk2 UTSW 2 143,591,060 (GRCm39) missense probably damaging 0.98
R6120:Pcsk2 UTSW 2 143,643,031 (GRCm39) missense probably damaging 1.00
R6135:Pcsk2 UTSW 2 143,415,460 (GRCm39) missense possibly damaging 0.63
R6657:Pcsk2 UTSW 2 143,532,286 (GRCm39) missense probably damaging 1.00
R6925:Pcsk2 UTSW 2 143,655,667 (GRCm39) missense probably damaging 1.00
R7223:Pcsk2 UTSW 2 143,532,253 (GRCm39) missense possibly damaging 0.95
R7289:Pcsk2 UTSW 2 143,532,343 (GRCm39) missense probably damaging 1.00
R8043:Pcsk2 UTSW 2 143,655,450 (GRCm39) nonsense probably null
R8803:Pcsk2 UTSW 2 143,637,870 (GRCm39) missense probably damaging 0.99
R8819:Pcsk2 UTSW 2 143,642,990 (GRCm39) missense probably damaging 0.99
R8820:Pcsk2 UTSW 2 143,642,990 (GRCm39) missense probably damaging 0.99
R9131:Pcsk2 UTSW 2 143,655,583 (GRCm39) missense possibly damaging 0.56
R9643:Pcsk2 UTSW 2 143,655,501 (GRCm39) missense probably damaging 1.00
R9753:Pcsk2 UTSW 2 143,635,150 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16