Incidental Mutation 'R7540:Pcsk7'
ID 585970
Institutional Source Beutler Lab
Gene Symbol Pcsk7
Ensembl Gene ENSMUSG00000035382
Gene Name proprotein convertase subtilisin/kexin type 7
Synonyms SPC7
MMRRC Submission 045612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7540 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45817795-45841024 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to T at 45838971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034590] [ENSMUST00000039059] [ENSMUST00000215189] [ENSMUST00000215509] [ENSMUST00000216672]
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 probably null
Transcript: ENSMUST00000039059
SMART Domains Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382

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: ENSMUST00000215189
Predicted Effect probably benign
Transcript: ENSMUST00000215509
Predicted Effect probably null
Transcript: ENSMUST00000216672
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (48/49)
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
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Adamts8 A G 9: 30,870,360 (GRCm39) E650G probably damaging Het
Adgrg7 G A 16: 56,570,792 (GRCm39) T412M probably damaging Het
Ank2 C T 3: 126,781,808 (GRCm39) V7I possibly damaging Het
Bpifb1 G A 2: 154,055,031 (GRCm39) V308M probably damaging Het
C3 A G 17: 57,513,220 (GRCm39) S1476P probably benign Het
Dgkb A T 12: 38,031,789 (GRCm39) probably benign Het
Fmn1 A G 2: 113,359,655 (GRCm39) probably null Het
Foxb1 G A 9: 69,667,141 (GRCm39) Q130* probably null Het
Gemin5 C T 11: 58,021,228 (GRCm39) probably null Het
Ghr T A 15: 3,349,396 (GRCm39) D594V possibly damaging Het
Gm10272 A C 10: 77,542,460 (GRCm39) M1L unknown Het
Gpr161 G A 1: 165,146,404 (GRCm39) V447M probably damaging Het
Hspg2 T A 4: 137,268,751 (GRCm39) S2157T possibly damaging Het
Irs1 A G 1: 82,265,723 (GRCm39) V831A not run Het
Itga8 T A 2: 12,115,848 (GRCm39) I1014L possibly damaging Het
Iws1 T A 18: 32,213,536 (GRCm39) S321R possibly damaging Het
Kctd19 G T 8: 106,113,567 (GRCm39) P702Q probably benign Het
Man2c1 G A 9: 57,047,559 (GRCm39) D739N probably damaging Het
Mboat4 T A 8: 34,591,178 (GRCm39) L205Q probably damaging Het
Meis3 C A 7: 15,911,418 (GRCm39) Y38* probably null Het
Mroh7 G T 4: 106,577,595 (GRCm39) T361K possibly damaging Het
Msantd5f2 C T 4: 73,586,648 (GRCm39) probably benign Het
Myl6b T A 10: 128,332,149 (GRCm39) K106* probably null Het
Naaa T A 5: 92,411,583 (GRCm39) T241S probably benign Het
Neurog3 T G 10: 61,969,756 (GRCm39) I172S probably benign Het
Nub1 T G 5: 24,906,527 (GRCm39) I351R probably damaging Het
Or2t47 C A 11: 58,442,457 (GRCm39) V203L possibly damaging Het
Or3a1c A T 11: 74,046,414 (GRCm39) R145W probably benign Het
Or6c207 A T 10: 129,105,003 (GRCm39) F63Y probably benign Het
Osbp2 T C 11: 3,667,944 (GRCm39) K18E probably damaging Het
Pcdh8 A T 14: 80,008,543 (GRCm39) W7R probably benign Het
Plin4 G A 17: 56,411,883 (GRCm39) T716I probably damaging Het
Prkcb G A 7: 122,167,357 (GRCm39) V356I probably damaging Het
Pus7 G A 5: 23,965,244 (GRCm39) T304I probably damaging Het
Rmnd1 A G 10: 4,353,989 (GRCm39) V402A probably damaging Het
Slmap T C 14: 26,181,346 (GRCm39) E329G probably damaging Het
Sytl3 T C 17: 6,949,346 (GRCm39) probably benign Het
Tg A G 15: 66,561,776 (GRCm39) I1087V probably benign Het
Tmco1 A G 1: 167,153,572 (GRCm39) T162A Het
Tti1 G A 2: 157,849,916 (GRCm39) T441I probably benign Het
Tubgcp6 G T 15: 88,986,526 (GRCm39) Q1366K possibly damaging Het
Ush1g T C 11: 115,209,399 (GRCm39) K265R probably benign Het
Zdhhc8 A G 16: 18,045,674 (GRCm39) V209A probably damaging Het
Zfp160 T A 17: 21,245,922 (GRCm39) Y157* probably null Het
Zfp423 A T 8: 88,414,695 (GRCm39) C1208S possibly damaging Het
Zfyve26 A T 12: 79,315,450 (GRCm39) V1342E probably damaging Het
Zmym1 A T 4: 126,942,550 (GRCm39) C613S probably benign 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
R3739:Pcsk7 UTSW 9 45,838,057 (GRCm39) missense possibly damaging 0.72
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
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'- TACTTCTGCAGGACCCTTGC -3'
(R):5'- GAAACACTACTTATGCCATCTGCC -3'

Sequencing Primer
(F):5'- CACATGGTCTGGATTCCCTTGG -3'
(R):5'- TGCCCCAACCTTGTAGCTGAAG -3'
Posted On 2019-10-18