Incidental Mutation 'R8777-TAIL:Pcsk4'
ID 668127
Institutional Source Beutler Lab
Gene Symbol Pcsk4
Ensembl Gene ENSMUSG00000020131
Gene Name proprotein convertase subtilisin/kexin type 4
Synonyms PC4, SPC5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8777-TAIL
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80157117-80165332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80159557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 405 (P405Q)
Ref Sequence ENSEMBL: ENSMUSP00000020340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020340] [ENSMUST00000020341] [ENSMUST00000128653] [ENSMUST00000135071]
AlphaFold P29121
Predicted Effect probably benign
Transcript: ENSMUST00000020340
AA Change: P405Q

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020340
Gene: ENSMUSG00000020131
AA Change: P405Q

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:S8_pro-domain 34 110 1.2e-24 PFAM
Pfam:Peptidase_S8 146 429 3.1e-50 PFAM
Pfam:P_proprotein 488 574 5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020341
SMART Domains Protein: ENSMUSP00000020341
Gene: ENSMUSG00000020133

DomainStartEndE-ValueType
Pfam:UPF0449 6 103 7.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128653
SMART Domains Protein: ENSMUSP00000137809
Gene: ENSMUSG00000020131

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SCOP:d1kn6a_ 31 102 8e-29 SMART
Pfam:Peptidase_S8 150 242 6.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135071
SMART Domains Protein: ENSMUSP00000137719
Gene: ENSMUSG00000020131

DomainStartEndE-ValueType
SCOP:d1kn6a_ 14 85 3e-27 SMART
Pfam:Peptidase_S8 133 187 1.7e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]
PHENOTYPE: Inactivation of this locus results in significantly reduced male fertility, putatively due to impaired fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,894 (GRCm39) T816S probably benign Het
Aff4 G A 11: 53,290,783 (GRCm39) S581N probably damaging Het
Aimp2 G A 5: 143,839,825 (GRCm39) A253V probably damaging Het
Arl6ip4 T G 5: 124,254,611 (GRCm39) S35A probably benign Het
Atp1a4 A T 1: 172,059,869 (GRCm39) Y787N probably damaging Het
Btbd8 T G 5: 107,658,293 (GRCm39) I1621R probably damaging Het
Ccdc169 T C 3: 55,058,334 (GRCm39) S13P probably damaging Het
Ccdc186 G A 19: 56,801,793 (GRCm39) S108F probably damaging Het
Ccdc39 G A 3: 33,893,282 (GRCm39) T101I probably benign Het
Cdh13 G T 8: 119,963,706 (GRCm39) probably null Het
Clec1b A T 6: 129,380,537 (GRCm39) E151V probably benign Het
Cplx1 T A 5: 108,673,435 (GRCm39) probably null Het
Diablo T A 5: 123,655,990 (GRCm39) I150F unknown Het
Esp31 T C 17: 38,955,582 (GRCm39) V75A probably benign Het
Gm49336 G A 14: 60,466,185 (GRCm39) L458F probably damaging Het
Grin3b A T 10: 79,808,972 (GRCm39) S241C possibly damaging Het
Gxylt2 A G 6: 100,727,432 (GRCm39) N182S probably damaging Het
Hephl1 T G 9: 14,972,090 (GRCm39) D950A probably benign Het
Hkdc1 A G 10: 62,234,612 (GRCm39) I556T possibly damaging Het
Ints4 C A 7: 97,134,227 (GRCm39) A53D probably damaging Het
Kmt5c T C 7: 4,745,712 (GRCm39) V124A possibly damaging Het
Lrpprc T A 17: 85,058,657 (GRCm39) Q734H probably benign Het
Map1b T C 13: 99,567,304 (GRCm39) T1806A unknown Het
Mcmbp A T 7: 128,308,855 (GRCm39) F389I probably damaging Het
Mcrs1 C T 15: 99,141,237 (GRCm39) G422S probably damaging Het
Mgam A G 6: 40,632,185 (GRCm39) H173R probably damaging Het
Mib1 G A 18: 10,747,422 (GRCm39) G200S probably benign Het
Myh13 A T 11: 67,252,161 (GRCm39) Q1423L possibly damaging Het
Myh2 A G 11: 67,083,398 (GRCm39) R1454G possibly damaging Het
Mylk4 C T 13: 32,913,089 (GRCm39) V70I probably benign Het
Myof A G 19: 37,968,841 (GRCm39) V358A probably benign Het
Ncor1 T A 11: 62,324,494 (GRCm39) H47L probably damaging Het
Ncor1 T A 11: 62,324,492 (GRCm39) I48F probably benign Het
Neurog2 G T 3: 127,427,742 (GRCm39) R122L probably damaging Het
Npdc1 T A 2: 25,298,129 (GRCm39) L193Q probably damaging Het
Nrxn3 A G 12: 89,227,234 (GRCm39) N290D probably damaging Het
Nynrin T C 14: 56,109,120 (GRCm39) M1409T probably benign Het
Oas1h T C 5: 121,005,107 (GRCm39) L185P probably damaging Het
Or10x4 A T 1: 174,218,848 (GRCm39) Y71F probably damaging Het
Or2z2 C T 11: 58,346,757 (GRCm39) W6* probably null Het
Or6c3 T A 10: 129,309,374 (GRCm39) V271E possibly damaging Het
Osbpl8 T A 10: 111,128,974 (GRCm39) N853K probably benign Het
Piwil4 A C 9: 14,650,685 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,361,967 (GRCm39) Y547H probably damaging Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,266,273 (GRCm39) probably benign Het
Rft1 T C 14: 30,382,156 (GRCm39) L51P probably damaging Het
Rufy2 T G 10: 62,833,660 (GRCm39) L241V possibly damaging Het
Slc5a5 T C 8: 71,343,934 (GRCm39) I155V possibly damaging Het
Slc7a2 T G 8: 41,351,991 (GRCm39) M18R probably damaging Het
Snapc4 A G 2: 26,259,375 (GRCm39) S592P probably benign Het
Strn4 T C 7: 16,550,533 (GRCm39) W86R probably damaging Het
Tenm4 A G 7: 96,545,244 (GRCm39) N2457S probably damaging Het
Tent4a T A 13: 69,658,824 (GRCm39) D337V probably damaging Het
Timd4 C A 11: 46,706,309 (GRCm39) T37N possibly damaging Het
Tmem268 T A 4: 63,496,076 (GRCm39) N172K probably damaging Het
Trrap T A 5: 144,773,949 (GRCm39) V2855D probably benign Het
Tubb6 A T 18: 67,534,598 (GRCm39) T166S probably damaging Het
Tufm A G 7: 126,088,034 (GRCm39) Y179C probably benign Het
Tut7 T C 13: 59,933,597 (GRCm39) N1302D probably benign Het
Ube2r2 C T 4: 41,190,715 (GRCm39) S203L possibly damaging Het
Vldlr G T 19: 27,217,946 (GRCm39) V465L probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r42 A G 7: 8,195,692 (GRCm39) F485L probably benign Het
Other mutations in Pcsk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Pcsk4 APN 10 80,158,657 (GRCm39) missense probably damaging 1.00
IGL02818:Pcsk4 APN 10 80,158,626 (GRCm39) missense probably damaging 0.98
IGL03115:Pcsk4 APN 10 80,164,883 (GRCm39) missense probably damaging 1.00
IGL03354:Pcsk4 APN 10 80,161,893 (GRCm39) missense probably damaging 0.99
R0538:Pcsk4 UTSW 10 80,161,168 (GRCm39) missense probably damaging 1.00
R0760:Pcsk4 UTSW 10 80,161,775 (GRCm39) unclassified probably benign
R1462:Pcsk4 UTSW 10 80,161,815 (GRCm39) missense probably damaging 1.00
R1462:Pcsk4 UTSW 10 80,161,815 (GRCm39) missense probably damaging 1.00
R1554:Pcsk4 UTSW 10 80,157,785 (GRCm39) missense probably benign 0.01
R1728:Pcsk4 UTSW 10 80,159,404 (GRCm39) missense probably damaging 0.99
R1784:Pcsk4 UTSW 10 80,159,404 (GRCm39) missense probably damaging 0.99
R1886:Pcsk4 UTSW 10 80,164,794 (GRCm39) missense probably benign 0.32
R1981:Pcsk4 UTSW 10 80,161,613 (GRCm39) missense probably damaging 1.00
R2090:Pcsk4 UTSW 10 80,161,655 (GRCm39) missense probably benign 0.02
R2125:Pcsk4 UTSW 10 80,159,713 (GRCm39) missense probably benign 0.32
R2283:Pcsk4 UTSW 10 80,158,584 (GRCm39) missense probably damaging 1.00
R4183:Pcsk4 UTSW 10 80,160,845 (GRCm39) missense probably benign 0.12
R4283:Pcsk4 UTSW 10 80,165,287 (GRCm39) unclassified probably benign
R4798:Pcsk4 UTSW 10 80,158,938 (GRCm39) missense probably damaging 1.00
R4857:Pcsk4 UTSW 10 80,160,873 (GRCm39) missense probably damaging 1.00
R4990:Pcsk4 UTSW 10 80,161,215 (GRCm39) missense possibly damaging 0.74
R4991:Pcsk4 UTSW 10 80,161,215 (GRCm39) missense possibly damaging 0.74
R5020:Pcsk4 UTSW 10 80,161,869 (GRCm39) missense probably benign 0.00
R5123:Pcsk4 UTSW 10 80,157,979 (GRCm39) missense probably null 0.56
R5354:Pcsk4 UTSW 10 80,159,523 (GRCm39) missense probably damaging 0.98
R6077:Pcsk4 UTSW 10 80,162,073 (GRCm39) missense probably damaging 0.99
R6102:Pcsk4 UTSW 10 80,161,651 (GRCm39) nonsense probably null
R6250:Pcsk4 UTSW 10 80,161,426 (GRCm39) missense probably benign 0.04
R6378:Pcsk4 UTSW 10 80,164,809 (GRCm39) missense probably benign 0.34
R6729:Pcsk4 UTSW 10 80,160,935 (GRCm39) missense probably damaging 0.99
R7308:Pcsk4 UTSW 10 80,159,007 (GRCm39) missense probably benign 0.41
R7595:Pcsk4 UTSW 10 80,157,935 (GRCm39) missense possibly damaging 0.84
R8004:Pcsk4 UTSW 10 80,158,674 (GRCm39) missense probably damaging 1.00
R8675:Pcsk4 UTSW 10 80,158,896 (GRCm39) missense probably damaging 1.00
R8777:Pcsk4 UTSW 10 80,159,557 (GRCm39) missense probably benign 0.29
R9030:Pcsk4 UTSW 10 80,164,858 (GRCm39) missense probably damaging 1.00
R9262:Pcsk4 UTSW 10 80,160,864 (GRCm39) missense probably damaging 1.00
R9278:Pcsk4 UTSW 10 80,161,224 (GRCm39) missense probably damaging 1.00
R9526:Pcsk4 UTSW 10 80,161,800 (GRCm39) missense probably damaging 0.96
R9546:Pcsk4 UTSW 10 80,157,741 (GRCm39) missense possibly damaging 0.59
R9733:Pcsk4 UTSW 10 80,158,034 (GRCm39) missense probably damaging 0.99
Z1176:Pcsk4 UTSW 10 80,158,560 (GRCm39) missense possibly damaging 0.94
Predicted Primers
Posted On 2021-03-08