Incidental Mutation 'R7475:Pcsk7'
ID 579426
Institutional Source Beutler Lab
Gene Symbol Pcsk7
Ensembl Gene ENSMUSG00000035382
Gene Name proprotein convertase subtilisin/kexin type 7
Synonyms SPC7
MMRRC Submission 045549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45817795-45841024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45838923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 612 (Y612N)
Ref Sequence ENSEMBL: ENSMUSP00000047508 (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 damaging
Transcript: ENSMUST00000039059
AA Change: Y612N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: Y612N

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 damaging
Transcript: ENSMUST00000216672
AA Change: Y612N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,739 (GRCm39) N214K probably benign Het
Abcf1 A G 17: 36,274,459 (GRCm39) probably null Het
Agxt2 A T 15: 10,409,623 (GRCm39) M508L probably benign Het
Akr1c21 A T 13: 4,626,318 (GRCm39) Y114F probably benign Het
Amz1 T C 5: 140,729,941 (GRCm39) probably null Het
Ank1 G T 8: 23,622,646 (GRCm39) A1732S probably benign Het
Atg16l1 T C 1: 87,687,805 (GRCm39) S50P possibly damaging Het
AW551984 A G 9: 39,509,236 (GRCm39) S302P probably damaging Het
Ccn6 T A 10: 39,034,296 (GRCm39) Y102F probably damaging Het
Ces3a T A 8: 105,780,322 (GRCm39) probably null Het
Dedd C A 1: 171,167,881 (GRCm39) P185Q probably benign Het
Fam186a A T 15: 99,845,395 (GRCm39) V283E unknown Het
Fat2 C A 11: 55,194,479 (GRCm39) V1187F probably benign Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fcgbp C T 7: 27,802,401 (GRCm39) T1443I probably damaging Het
Foxj2 A G 6: 122,814,801 (GRCm39) D279G probably benign Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm49368 A T 7: 127,707,154 (GRCm39) T661S possibly damaging Het
Gria4 T G 9: 4,513,330 (GRCm39) T260P probably damaging Het
Gtf2ird2 T A 5: 134,230,267 (GRCm39) D195E possibly damaging Het
Hectd4 T A 5: 121,496,196 (GRCm39) probably null Het
Ifngr2 G A 16: 91,354,797 (GRCm39) C32Y unknown Het
Ikzf5 A T 7: 130,993,788 (GRCm39) C280S probably benign Het
Ints9 G T 14: 65,263,914 (GRCm39) E395D probably null Het
Isoc2b T C 7: 4,854,084 (GRCm39) D96G probably benign Het
Jmjd1c T G 10: 67,061,092 (GRCm39) S967R probably benign Het
Kcnj3 A T 2: 55,327,338 (GRCm39) K42N probably benign Het
Kiz T C 2: 146,733,006 (GRCm39) V394A possibly damaging Het
Knl1 A T 2: 118,918,027 (GRCm39) H1795L probably damaging Het
Lmntd2 A G 7: 140,790,602 (GRCm39) probably null Het
Loxhd1 C A 18: 77,500,001 (GRCm39) D1690E possibly damaging Het
Lrp1b T C 2: 41,234,588 (GRCm39) D1121G Het
Map3k2 T C 18: 32,333,015 (GRCm39) V63A possibly damaging Het
Mcc G T 18: 44,609,303 (GRCm39) A499D probably damaging Het
Mcpt9 T A 14: 56,264,400 (GRCm39) I232F probably damaging Het
Meltf A G 16: 31,700,756 (GRCm39) K92R probably benign Het
Mff T A 1: 82,723,159 (GRCm39) probably null Het
Mrgpra3 T A 7: 47,239,695 (GRCm39) Y77F probably damaging Het
Mylk G A 16: 34,734,446 (GRCm39) probably null Het
Ndufv2 A G 17: 66,394,532 (GRCm39) V111A possibly damaging Het
Nkd2 T C 13: 73,973,861 (GRCm39) E99G probably damaging Het
Nlk C A 11: 78,474,225 (GRCm39) G358V probably damaging Het
Nnmt A T 9: 48,503,532 (GRCm39) C165S probably damaging Het
Nxpe4 T A 9: 48,304,640 (GRCm39) C242* probably null Het
Oas1b A T 5: 120,955,705 (GRCm39) N162I probably damaging Het
Or4s2 A G 2: 88,473,554 (GRCm39) I148V probably benign Het
Otog A G 7: 45,916,700 (GRCm39) N879S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pkhd1l1 C T 15: 44,368,581 (GRCm39) Q800* probably null Het
Pkn3 T C 2: 29,977,122 (GRCm39) S621P probably benign Het
Polr3c T C 3: 96,622,501 (GRCm39) I385V probably benign Het
Ppp1r21 G T 17: 88,863,031 (GRCm39) G257W probably benign Het
Prkn A G 17: 11,653,501 (GRCm39) D199G probably benign Het
Pxylp1 C T 9: 96,738,420 (GRCm39) probably null Het
Rasgrp1 T C 2: 117,116,589 (GRCm39) T613A probably benign Het
Robo3 C T 9: 37,336,674 (GRCm39) V387I probably benign Het
Rxfp2 T A 5: 149,973,046 (GRCm39) Y174N possibly damaging Het
Sec24a T C 11: 51,604,379 (GRCm39) M746V probably damaging Het
Sema4f T A 6: 82,891,355 (GRCm39) E571D possibly damaging Het
Septin3 T C 15: 82,170,657 (GRCm39) V217A probably benign Het
Serpinb1b A C 13: 33,277,548 (GRCm39) K260N probably benign Het
Sin3b A G 8: 73,476,500 (GRCm39) T645A possibly damaging Het
Sobp C T 10: 42,897,830 (GRCm39) R585Q probably damaging Het
Specc1l T A 10: 75,082,281 (GRCm39) L559Q possibly damaging Het
Srxn1 C T 2: 151,947,573 (GRCm39) probably benign Het
Sspo G A 6: 48,432,794 (GRCm39) R890Q probably benign Het
Stard9 A G 2: 120,518,591 (GRCm39) D505G probably damaging Het
Tjp1 A T 7: 64,972,087 (GRCm39) I653K probably damaging Het
Tnks C T 8: 35,298,866 (GRCm39) E1296K probably damaging Het
Ttbk2 A T 2: 120,579,121 (GRCm39) I667N probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Usp46 T A 5: 74,189,598 (GRCm39) K109* probably null Het
Vmn1r191 A G 13: 22,362,942 (GRCm39) C271R probably benign Het
Zfp592 T C 7: 80,673,200 (GRCm39) S55P probably damaging Het
Zmynd15 T C 11: 70,351,867 (GRCm39) S158P probably benign Het
Zscan22 T G 7: 12,640,664 (GRCm39) C303G 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
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
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'- GAGATACTTCTGCAGGACCCTTG -3'
(R):5'- CCCCAACCTTGTAGCTGAAG -3'

Sequencing Primer
(F):5'- CCTTGCGGGTCCATGGG -3'
(R):5'- CCAACCTTGTAGCTGAAGAGAGTG -3'
Posted On 2019-10-07