Incidental Mutation 'R2939:Pcsk7'
ID 264586
Institutional Source Beutler Lab
Gene Symbol Pcsk7
Ensembl Gene ENSMUSG00000035382
Gene Name proprotein convertase subtilisin/kexin type 7
Synonyms SPC7
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45817795-45841024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45827322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 363 (A363V)
Ref Sequence ENSEMBL: ENSMUSP00000150393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039059] [ENSMUST00000213854] [ENSMUST00000215189] [ENSMUST00000216672]
AlphaFold Q61139
Predicted Effect probably damaging
Transcript: ENSMUST00000039059
AA Change: A363V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: A363V

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: A363V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: A363V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7843 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly 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
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
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'- GAATTCCCTCTGCCATTTGAGG -3'
(R):5'- GTCCAAATTCTACCATAGGTATCCTAC -3'

Sequencing Primer
(F):5'- CCATTTGAGGCTACCCGC -3'
(R):5'- CCTCAGCTACATAGTGACTTGGAG -3'
Posted On 2015-02-05