Incidental Mutation 'R3739:Pcsk7'
ID 270295
Institutional Source Beutler Lab
Gene Symbol Pcsk7
Ensembl Gene ENSMUSG00000035382
Gene Name proprotein convertase subtilisin/kexin type 7
Synonyms SPC7
MMRRC Submission 040725-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3739 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45817795-45841024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45838057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 572 (T572A)
Ref Sequence ENSEMBL: ENSMUSP00000150393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034590] [ENSMUST00000039059] [ENSMUST00000215189] [ENSMUST00000216672] [ENSMUST00000215509]
AlphaFold Q61139
Predicted Effect probably benign
Transcript: ENSMUST00000034590
SMART Domains Protein: ENSMUSP00000034590
Gene: ENSMUSG00000032085

DomainStartEndE-ValueType
CH 26 133 1.53e-20 SMART
Pfam:Calponin 175 199 5.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000039059
AA Change: T572A

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: T572A

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 noncoding transcript
Transcript: ENSMUST00000213634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214425
Predicted Effect probably benign
Transcript: ENSMUST00000215189
Predicted Effect possibly damaging
Transcript: ENSMUST00000216672
AA Change: T572A

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216504
Predicted Effect probably benign
Transcript: ENSMUST00000215509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216035
Meta Mutation Damage Score 0.2706 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ahnak2 T C 12: 112,740,992 (GRCm39) I1027V probably benign Het
Alox12e A G 11: 70,210,668 (GRCm39) L318P probably damaging Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Anks1b T A 10: 89,869,078 (GRCm39) I46N probably damaging Het
Apoa5 G C 9: 46,180,415 (GRCm39) W7S probably damaging Het
Arnt2 T C 7: 83,993,009 (GRCm39) H177R probably null Het
Cacna1c T C 6: 118,718,913 (GRCm39) D220G probably benign Het
Dst C T 1: 34,307,975 (GRCm39) probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Galnt1 A G 18: 24,404,712 (GRCm39) T350A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gfm1 T C 3: 67,364,033 (GRCm39) I503T probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Itgbl1 T C 14: 124,204,090 (GRCm39) F394L probably damaging Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Klra17 T A 6: 129,850,328 (GRCm39) I41F probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ms4a18 A T 19: 10,988,863 (GRCm39) H164Q probably damaging Het
Mybbp1a A G 11: 72,339,563 (GRCm39) H882R possibly damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Myo18a A G 11: 77,736,441 (GRCm39) D1514G probably damaging Het
Nsun2 T C 13: 69,777,757 (GRCm39) I441T probably benign Het
Ntng1 A T 3: 109,842,007 (GRCm39) D255E probably damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Pclo A C 5: 14,730,913 (GRCm39) K3138N unknown Het
Pex11a C T 7: 79,389,918 (GRCm39) R56H possibly damaging Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Saa4 T A 7: 46,379,053 (GRCm39) N96Y possibly damaging Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Taf3 T C 2: 9,956,469 (GRCm39) E566G possibly damaging Het
Tnr T C 1: 159,750,983 (GRCm39) S1315P possibly damaging Het
Trappc11 T C 8: 47,967,138 (GRCm39) E412G probably damaging Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Trpm7 A G 2: 126,693,441 (GRCm39) V48A probably damaging Het
Tubb6 A G 18: 67,535,121 (GRCm39) Y340C probably damaging Het
Vmn1r197 C A 13: 22,512,746 (GRCm39) Y222* probably null Het
Vmn2r97 T C 17: 19,148,413 (GRCm39) S103P probably damaging Het
Zfp362 C G 4: 128,680,682 (GRCm39) probably benign Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Pcsk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Pcsk7 APN 9 45,838,958 (GRCm39) missense probably benign
IGL01081:Pcsk7 APN 9 45,840,005 (GRCm39) missense probably benign
IGL02634:Pcsk7 APN 9 45,830,560 (GRCm39) missense possibly damaging 0.87
IGL02999:Pcsk7 APN 9 45,838,897 (GRCm39) missense possibly damaging 0.68
IGL03115:Pcsk7 APN 9 45,825,670 (GRCm39) missense probably damaging 1.00
IGL03149:Pcsk7 APN 9 45,820,778 (GRCm39) missense probably benign 0.37
R0243:Pcsk7 UTSW 9 45,827,357 (GRCm39) missense probably damaging 1.00
R0324:Pcsk7 UTSW 9 45,824,309 (GRCm39) missense possibly damaging 0.87
R0947:Pcsk7 UTSW 9 45,822,470 (GRCm39) missense probably damaging 1.00
R1443:Pcsk7 UTSW 9 45,837,284 (GRCm39) missense probably damaging 1.00
R1545:Pcsk7 UTSW 9 45,825,646 (GRCm39) missense probably damaging 1.00
R2182:Pcsk7 UTSW 9 45,839,917 (GRCm39) missense probably benign
R2939:Pcsk7 UTSW 9 45,827,322 (GRCm39) missense probably damaging 1.00
R4039:Pcsk7 UTSW 9 45,839,305 (GRCm39) splice site probably null
R4348:Pcsk7 UTSW 9 45,830,646 (GRCm39) missense probably damaging 1.00
R4974:Pcsk7 UTSW 9 45,830,160 (GRCm39) missense probably damaging 1.00
R5817:Pcsk7 UTSW 9 45,837,331 (GRCm39) missense probably benign 0.01
R6214:Pcsk7 UTSW 9 45,821,674 (GRCm39) missense possibly damaging 0.47
R6215:Pcsk7 UTSW 9 45,821,674 (GRCm39) missense possibly damaging 0.47
R6408:Pcsk7 UTSW 9 45,820,994 (GRCm39) missense probably benign 0.18
R7338:Pcsk7 UTSW 9 45,837,287 (GRCm39) missense probably benign 0.03
R7355:Pcsk7 UTSW 9 45,820,672 (GRCm39) missense probably benign 0.03
R7475:Pcsk7 UTSW 9 45,838,923 (GRCm39) missense probably damaging 1.00
R7540:Pcsk7 UTSW 9 45,838,971 (GRCm39) splice site probably null
R8305:Pcsk7 UTSW 9 45,821,707 (GRCm39) missense probably damaging 1.00
R8834:Pcsk7 UTSW 9 45,830,589 (GRCm39) missense possibly damaging 0.70
R8973:Pcsk7 UTSW 9 45,838,940 (GRCm39) missense probably benign 0.22
R9541:Pcsk7 UTSW 9 45,820,768 (GRCm39) missense probably benign 0.00
R9571:Pcsk7 UTSW 9 45,820,907 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GGCGTTTACACAAGGACAAAAC -3'
(R):5'- CAGTTTTACGGACAATGCCTAC -3'

Sequencing Primer
(F):5'- GTTTACACAAGGACAAAACTTCCTC -3'
(R):5'- GAGGACATACTTATTGGCATGTACC -3'
Posted On 2015-03-18