Incidental Mutation 'IGL03115:Pcsk7'
ID419393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcsk7
Ensembl Gene ENSMUSG00000035382
Gene Nameproprotein convertase subtilisin/kexin type 7
SynonymsSPC7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03115
Quality Score
Status
Chromosome9
Chromosomal Location45906497-45929726 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45914372 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 300 (H300Q)
Ref Sequence ENSEMBL: ENSMUSP00000150393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039059] [ENSMUST00000213854] [ENSMUST00000215189] [ENSMUST00000216672]
Predicted Effect probably damaging
Transcript: ENSMUST00000039059
AA Change: H300Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: H300Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:S8_pro-domain 52 140 9.7e-21 PFAM
Pfam:Peptidase_S8 177 464 4.7e-43 PFAM
Pfam:P_proprotein 524 611 1.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213854
Predicted Effect probably damaging
Transcript: ENSMUST00000215189
AA Change: H300Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216614
Predicted Effect probably damaging
Transcript: ENSMUST00000216672
AA Change: H300Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event 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. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,571,353 H302L probably damaging Het
Adamts12 T A 15: 11,263,336 C595S probably damaging Het
Arid2 G A 15: 96,370,273 V756I probably damaging Het
Asah1 A T 8: 41,360,299 W26R possibly damaging Het
Brinp1 C T 4: 68,904,736 probably null Het
Cers2 A G 3: 95,321,352 D162G probably damaging Het
Clasp1 G T 1: 118,501,323 E106* probably null Het
Col12a1 T C 9: 79,681,437 E1132G probably damaging Het
Dhdds G T 4: 133,982,871 H196N probably benign Het
Eps8 T C 6: 137,527,381 D118G probably damaging Het
Fmo9 A G 1: 166,677,651 S7P probably damaging Het
Gamt A G 10: 80,258,438 L197P probably damaging Het
Grb7 A G 11: 98,451,119 I82V probably damaging Het
Hectd2 T C 19: 36,599,721 probably null Het
Ilk T C 7: 105,740,335 V83A probably damaging Het
Kif21a T A 15: 90,985,395 I418F probably damaging Het
Kndc1 A G 7: 139,921,509 I905V probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Morc3 T C 16: 93,871,083 I710T probably damaging Het
Nefm T C 14: 68,120,279 probably benign Het
Olfr452 A G 6: 42,790,665 T209A probably benign Het
Olfr937 C A 9: 39,059,963 R234S probably damaging Het
Olfr975 T C 9: 39,950,744 E9G probably damaging Het
Pard6g T G 18: 80,079,853 L34W probably damaging Het
Patj C T 4: 98,443,803 S562L probably damaging Het
Pcsk4 A G 10: 80,329,049 I61T probably damaging Het
Pip5kl1 A G 2: 32,580,021 D288G probably damaging Het
Plxnb2 T A 15: 89,162,438 probably benign Het
Poldip2 T C 11: 78,521,144 probably benign Het
Ralgapa2 T C 2: 146,424,814 Y614C probably damaging Het
Rarres1 C A 3: 67,495,812 probably null Het
Samd3 C T 10: 26,271,708 T427M probably damaging Het
Skap1 A G 11: 96,702,620 I98V probably benign Het
Skint11 T C 4: 114,244,623 S87P probably damaging Het
Slc22a22 T G 15: 57,263,274 E133A probably damaging Het
Slc23a2 T C 2: 132,091,265 Y91C probably damaging Het
Slc6a20b T A 9: 123,597,338 E494V possibly damaging Het
Slco1a4 A C 6: 141,817,859 M377R probably damaging Het
Slco1a4 A T 6: 141,819,603 D304E probably benign Het
Srpk2 T C 5: 23,524,618 probably null Het
Supt3 T G 17: 45,041,227 C271W probably damaging Het
Taar7d C A 10: 24,027,641 F140L probably benign Het
Tmbim7 T C 5: 3,679,158 *225Q probably null Het
Tpst1 T C 5: 130,101,911 I74T probably damaging Het
Utp3 T C 5: 88,555,320 V236A possibly damaging Het
Vmn2r55 A T 7: 12,670,631 F282I probably damaging Het
Vwa5b1 A T 4: 138,600,149 I372N possibly damaging Het
Wtip C T 7: 34,125,533 A209T probably damaging Het
Zbbx T C 3: 75,078,560 D395G probably benign Het
Zfp273 A T 13: 67,825,650 H299L probably damaging Het
Zfp459 G A 13: 67,408,677 R96* probably null Het
Other mutations in Pcsk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Pcsk7 APN 9 45927660 missense probably benign
IGL01081:Pcsk7 APN 9 45928707 missense probably benign
IGL02634:Pcsk7 APN 9 45919262 missense possibly damaging 0.87
IGL02999:Pcsk7 APN 9 45927599 missense possibly damaging 0.68
IGL03149:Pcsk7 APN 9 45909480 missense probably benign 0.37
R0243:Pcsk7 UTSW 9 45916059 missense probably damaging 1.00
R0324:Pcsk7 UTSW 9 45913011 missense possibly damaging 0.87
R0947:Pcsk7 UTSW 9 45911172 missense probably damaging 1.00
R1443:Pcsk7 UTSW 9 45925986 missense probably damaging 1.00
R1545:Pcsk7 UTSW 9 45914348 missense probably damaging 1.00
R2182:Pcsk7 UTSW 9 45928619 missense probably benign
R2939:Pcsk7 UTSW 9 45916024 missense probably damaging 1.00
R3739:Pcsk7 UTSW 9 45926759 missense possibly damaging 0.72
R4039:Pcsk7 UTSW 9 45928007 splice site probably null
R4348:Pcsk7 UTSW 9 45919348 missense probably damaging 1.00
R4974:Pcsk7 UTSW 9 45918862 missense probably damaging 1.00
R5817:Pcsk7 UTSW 9 45926033 missense probably benign 0.01
R6214:Pcsk7 UTSW 9 45910376 missense possibly damaging 0.47
R6215:Pcsk7 UTSW 9 45910376 missense possibly damaging 0.47
R6408:Pcsk7 UTSW 9 45909696 missense probably benign 0.18
R7338:Pcsk7 UTSW 9 45925989 missense probably benign 0.03
R7355:Pcsk7 UTSW 9 45909374 missense probably benign 0.03
R7475:Pcsk7 UTSW 9 45927625 missense probably damaging 1.00
R7540:Pcsk7 UTSW 9 45927673 splice site probably null
Posted On2016-08-02