Incidental Mutation 'R6837:Pcsk5'
ID 537923
Institutional Source Beutler Lab
Gene Symbol Pcsk5
Ensembl Gene ENSMUSG00000024713
Gene Name proprotein convertase subtilisin/kexin type 5
Synonyms PC5A, PC5/6A, PC6, b2b1549Clo, b2b585Clo, SPC6
MMRRC Submission 044945-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6837 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 17409683-17814996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17416448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1667 (S1667G)
Ref Sequence ENSEMBL: ENSMUSP00000025618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025618]
AlphaFold Q04592
Predicted Effect probably benign
Transcript: ENSMUST00000025618
AA Change: S1667G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: S1667G

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
Pfam:S8_pro-domain 40 116 4.6e-27 PFAM
Pfam:Peptidase_S8 164 447 2.1e-46 PFAM
Pfam:P_proprotein 507 597 2.1e-33 PFAM
FU 632 682 4.92e-13 SMART
FU 685 732 4.84e-12 SMART
EGF_like 690 723 3.29e1 SMART
FU 736 779 1.29e-7 SMART
FU 781 826 5.74e-14 SMART
FU 834 881 2.23e-11 SMART
EGF_like 839 870 3.43e1 SMART
FU 884 929 1.84e-12 SMART
FU 931 981 1.47e-11 SMART
FU 984 1030 1e-4 SMART
EGF_like 989 1020 2.92e1 SMART
FU 1034 1079 5.04e-10 SMART
FU 1081 1123 3.08e-5 SMART
FU 1127 1168 4.88e-8 SMART
FU 1206 1248 2.7e-10 SMART
EGF_like 1211 1239 5.91e1 SMART
FU 1252 1299 1.48e-7 SMART
EGF 1264 1305 1.69e1 SMART
FU 1301 1345 2.31e-9 SMART
FU 1347 1390 8.98e-7 SMART
EGF_like 1352 1381 7.23e1 SMART
FU 1392 1438 1.04e-11 SMART
FU 1442 1487 6.8e-7 SMART
EGF 1447 1476 2.16e1 SMART
FU 1491 1536 3.37e-11 SMART
FU 1540 1585 9.32e-14 SMART
EGF_like 1545 1576 2.8e1 SMART
FU 1589 1636 1.39e-12 SMART
FU 1640 1685 6.49e-13 SMART
EGF_like 1645 1676 6.67e1 SMART
FU 1691 1738 7.01e-9 SMART
transmembrane domain 1770 1789 N/A INTRINSIC
low complexity region 1827 1840 N/A INTRINSIC
low complexity region 1858 1876 N/A INTRINSIC
Meta Mutation Damage Score 0.1345 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: This gene encodes a subtilisin-like proprotein convertase that mediates posttranslational endoproteolytic processing of various proprotein substrates traversing the secretory pathway. The encoded protein is an inactive zymogen that undergoes autoproteolytic processing in the endoplasmic reticulum and the Golgi network to generate an active enzyme. Mice lacking the encoded protein die at an early embryonic stage. Conditional inactivation this gene in the epiblast but not in the extraembryonic tissue bypasses embryonic lethality but results in death at birth. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 53,188,045 (GRCm39) E1820K probably damaging Het
Anxa8 A T 14: 33,814,511 (GRCm39) I116F probably damaging Het
Arid4a A G 12: 71,122,289 (GRCm39) D890G probably benign Het
Aup1 C T 6: 83,034,279 (GRCm39) T396I possibly damaging Het
C2cd3 G C 7: 100,097,953 (GRCm39) E594Q probably damaging Het
Colgalt2 C T 1: 152,382,579 (GRCm39) P477L probably damaging Het
Dennd3 G A 15: 73,429,542 (GRCm39) D20N probably damaging Het
Dpysl3 A G 18: 43,570,947 (GRCm39) I109T probably benign Het
Fas A T 19: 34,284,564 (GRCm39) T24S probably damaging Het
Fras1 A T 5: 96,874,832 (GRCm39) I2332F probably damaging Het
Gm10267 T C 18: 44,291,375 (GRCm39) H32R probably benign Het
Gm57859 A G 11: 113,579,439 (GRCm39) H278R possibly damaging Het
Hcfc2 A T 10: 82,575,030 (GRCm39) I230F probably damaging Het
Hdac9 T C 12: 34,337,463 (GRCm39) T673A probably benign Het
Herc2 T G 7: 55,839,589 (GRCm39) N3366K possibly damaging Het
Hhla1 T C 15: 65,820,334 (GRCm39) N139D probably damaging Het
Hip1r A G 5: 124,136,928 (GRCm39) E632G possibly damaging Het
Kcnc2 A G 10: 112,294,407 (GRCm39) D98G probably damaging Het
Maip1 T A 1: 57,454,891 (GRCm39) *292K probably null Het
Map2 T C 1: 66,453,731 (GRCm39) F874L probably damaging Het
Myof A T 19: 37,911,404 (GRCm39) probably null Het
Notch2 A G 3: 97,978,170 (GRCm39) probably null Het
Npy5r T A 8: 67,134,392 (GRCm39) M134L probably benign Het
Ntsr2 T A 12: 16,709,710 (GRCm39) M225K probably benign Het
Nup153 G A 13: 46,847,527 (GRCm39) T634I probably damaging Het
Or51f1d T A 7: 102,700,929 (GRCm39) Y141* probably null Het
Pex13 A G 11: 23,599,527 (GRCm39) I328T possibly damaging Het
Pkd2 T G 5: 104,624,909 (GRCm39) L235W probably damaging Het
Prune2 A T 19: 17,156,292 (GRCm39) D66V probably damaging Het
Rasal3 T C 17: 32,622,044 (GRCm39) N105S probably benign Het
Sla A T 15: 66,658,939 (GRCm39) I144N probably damaging Het
Slc5a4b A T 10: 75,898,220 (GRCm39) I498N possibly damaging Het
Snx14 C T 9: 88,262,276 (GRCm39) E872K probably benign Het
Stx16 G A 2: 173,935,795 (GRCm39) R242H probably benign Het
Tg T C 15: 66,567,984 (GRCm39) F1296S probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmf1 G A 6: 97,153,542 (GRCm39) T177M possibly damaging Het
Tuba4a T C 1: 75,194,038 (GRCm39) Q14R probably damaging Het
Vmn2r114 T C 17: 23,529,176 (GRCm39) M309V probably benign Het
Vps13c C T 9: 67,817,504 (GRCm39) P1059S probably benign Het
Yars1 T A 4: 129,103,544 (GRCm39) S298T possibly damaging Het
Other mutations in Pcsk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Pcsk5 APN 19 17,488,785 (GRCm39) missense possibly damaging 0.49
IGL00423:Pcsk5 APN 19 17,619,923 (GRCm39) missense probably benign 0.23
IGL01315:Pcsk5 APN 19 17,429,322 (GRCm39) missense probably damaging 1.00
IGL01372:Pcsk5 APN 19 17,595,108 (GRCm39) missense probably damaging 1.00
IGL01738:Pcsk5 APN 19 17,411,144 (GRCm39) splice site probably benign
IGL01874:Pcsk5 APN 19 17,573,041 (GRCm39) missense probably damaging 0.96
IGL02070:Pcsk5 APN 19 17,416,406 (GRCm39) missense probably benign 0.25
IGL02311:Pcsk5 APN 19 17,410,784 (GRCm39) nonsense probably null
IGL02436:Pcsk5 APN 19 17,542,072 (GRCm39) critical splice donor site probably null
IGL02498:Pcsk5 APN 19 17,488,920 (GRCm39) missense probably damaging 0.99
IGL02504:Pcsk5 APN 19 17,455,236 (GRCm39) critical splice donor site probably null
IGL02664:Pcsk5 APN 19 17,434,134 (GRCm39) missense probably damaging 1.00
IGL02735:Pcsk5 APN 19 17,652,832 (GRCm39) missense probably damaging 1.00
IGL02941:Pcsk5 APN 19 17,424,865 (GRCm39) missense probably damaging 1.00
PIT4377001:Pcsk5 UTSW 19 17,416,466 (GRCm39) missense probably damaging 1.00
R0007:Pcsk5 UTSW 19 17,632,225 (GRCm39) missense probably damaging 1.00
R0007:Pcsk5 UTSW 19 17,632,225 (GRCm39) missense probably damaging 1.00
R0032:Pcsk5 UTSW 19 17,542,179 (GRCm39) missense possibly damaging 0.81
R0032:Pcsk5 UTSW 19 17,542,179 (GRCm39) missense possibly damaging 0.81
R0373:Pcsk5 UTSW 19 17,632,213 (GRCm39) missense probably damaging 1.00
R0784:Pcsk5 UTSW 19 17,692,133 (GRCm39) missense probably benign 0.06
R0843:Pcsk5 UTSW 19 17,632,182 (GRCm39) missense probably damaging 1.00
R1014:Pcsk5 UTSW 19 17,542,194 (GRCm39) missense probably damaging 1.00
R1221:Pcsk5 UTSW 19 17,814,512 (GRCm39) missense possibly damaging 0.85
R1435:Pcsk5 UTSW 19 17,541,246 (GRCm39) nonsense probably null
R1471:Pcsk5 UTSW 19 17,545,688 (GRCm39) missense probably damaging 1.00
R1564:Pcsk5 UTSW 19 17,632,120 (GRCm39) missense probably damaging 1.00
R1597:Pcsk5 UTSW 19 17,413,964 (GRCm39) missense probably benign 0.00
R1614:Pcsk5 UTSW 19 17,492,620 (GRCm39) missense probably damaging 1.00
R1661:Pcsk5 UTSW 19 17,424,938 (GRCm39) missense probably damaging 0.98
R1671:Pcsk5 UTSW 19 17,432,232 (GRCm39) missense probably damaging 1.00
R1703:Pcsk5 UTSW 19 17,729,458 (GRCm39) missense probably benign 0.15
R1793:Pcsk5 UTSW 19 17,432,114 (GRCm39) missense possibly damaging 0.83
R1855:Pcsk5 UTSW 19 17,492,556 (GRCm39) missense possibly damaging 0.93
R1909:Pcsk5 UTSW 19 17,410,825 (GRCm39) missense probably benign 0.00
R1959:Pcsk5 UTSW 19 17,410,782 (GRCm39) missense unknown
R2006:Pcsk5 UTSW 19 17,455,280 (GRCm39) missense probably benign 0.32
R2045:Pcsk5 UTSW 19 17,558,508 (GRCm39) missense possibly damaging 0.48
R2061:Pcsk5 UTSW 19 17,432,236 (GRCm39) missense probably benign 0.03
R2110:Pcsk5 UTSW 19 17,450,423 (GRCm39) missense probably damaging 1.00
R2402:Pcsk5 UTSW 19 17,452,198 (GRCm39) nonsense probably null
R2496:Pcsk5 UTSW 19 17,443,522 (GRCm39) nonsense probably null
R4115:Pcsk5 UTSW 19 17,410,783 (GRCm39) missense unknown
R4504:Pcsk5 UTSW 19 17,429,319 (GRCm39) missense probably damaging 1.00
R4616:Pcsk5 UTSW 19 17,538,114 (GRCm39) missense probably benign 0.00
R4683:Pcsk5 UTSW 19 17,450,405 (GRCm39) missense probably damaging 1.00
R4717:Pcsk5 UTSW 19 17,502,631 (GRCm39) missense probably damaging 1.00
R4761:Pcsk5 UTSW 19 17,814,512 (GRCm39) missense possibly damaging 0.85
R4789:Pcsk5 UTSW 19 17,410,963 (GRCm39) missense probably benign 0.09
R4880:Pcsk5 UTSW 19 17,425,054 (GRCm39) missense probably damaging 1.00
R5100:Pcsk5 UTSW 19 17,492,499 (GRCm39) critical splice donor site probably null
R5114:Pcsk5 UTSW 19 17,652,949 (GRCm39) missense probably damaging 1.00
R5116:Pcsk5 UTSW 19 17,440,798 (GRCm39) missense possibly damaging 0.87
R5193:Pcsk5 UTSW 19 17,542,174 (GRCm39) missense possibly damaging 0.79
R5279:Pcsk5 UTSW 19 17,573,022 (GRCm39) splice site probably null
R5334:Pcsk5 UTSW 19 17,439,215 (GRCm39) missense probably benign 0.00
R5369:Pcsk5 UTSW 19 17,558,619 (GRCm39) missense probably damaging 1.00
R5451:Pcsk5 UTSW 19 17,440,720 (GRCm39) missense possibly damaging 0.91
R5547:Pcsk5 UTSW 19 17,729,488 (GRCm39) missense probably benign 0.08
R5630:Pcsk5 UTSW 19 17,553,195 (GRCm39) missense probably benign 0.04
R5805:Pcsk5 UTSW 19 17,434,193 (GRCm39) missense probably benign 0.01
R6063:Pcsk5 UTSW 19 17,432,045 (GRCm39) critical splice donor site probably null
R6130:Pcsk5 UTSW 19 17,488,920 (GRCm39) missense probably damaging 0.99
R6153:Pcsk5 UTSW 19 17,488,856 (GRCm39) missense probably damaging 0.98
R6163:Pcsk5 UTSW 19 17,450,405 (GRCm39) missense probably damaging 1.00
R6164:Pcsk5 UTSW 19 17,814,317 (GRCm39) critical splice donor site probably null
R6228:Pcsk5 UTSW 19 17,558,631 (GRCm39) missense possibly damaging 0.91
R6426:Pcsk5 UTSW 19 17,595,093 (GRCm39) missense probably damaging 1.00
R6601:Pcsk5 UTSW 19 17,488,744 (GRCm39) missense probably benign 0.00
R6648:Pcsk5 UTSW 19 17,553,185 (GRCm39) missense probably damaging 0.99
R6789:Pcsk5 UTSW 19 17,434,150 (GRCm39) missense possibly damaging 0.93
R6807:Pcsk5 UTSW 19 17,549,986 (GRCm39) splice site probably null
R6998:Pcsk5 UTSW 19 17,450,476 (GRCm39) missense probably benign 0.20
R7051:Pcsk5 UTSW 19 17,411,095 (GRCm39) missense probably benign 0.00
R7164:Pcsk5 UTSW 19 17,429,349 (GRCm39) missense probably damaging 1.00
R7173:Pcsk5 UTSW 19 17,455,241 (GRCm39) missense possibly damaging 0.85
R7348:Pcsk5 UTSW 19 17,434,182 (GRCm39) nonsense probably null
R7360:Pcsk5 UTSW 19 17,492,577 (GRCm39) missense probably benign 0.00
R7407:Pcsk5 UTSW 19 17,652,880 (GRCm39) missense probably damaging 1.00
R7447:Pcsk5 UTSW 19 17,487,600 (GRCm39) missense probably benign 0.31
R7521:Pcsk5 UTSW 19 17,432,196 (GRCm39) missense probably benign 0.29
R7525:Pcsk5 UTSW 19 17,619,954 (GRCm39) missense probably damaging 1.00
R7560:Pcsk5 UTSW 19 17,814,336 (GRCm39) missense probably benign 0.01
R7566:Pcsk5 UTSW 19 17,549,821 (GRCm39) missense probably benign
R7631:Pcsk5 UTSW 19 17,542,144 (GRCm39) missense probably damaging 1.00
R7654:Pcsk5 UTSW 19 17,434,168 (GRCm39) missense possibly damaging 0.46
R7677:Pcsk5 UTSW 19 17,558,593 (GRCm39) missense possibly damaging 0.59
R7711:Pcsk5 UTSW 19 17,416,444 (GRCm39) missense possibly damaging 0.82
R7903:Pcsk5 UTSW 19 17,549,847 (GRCm39) missense probably damaging 0.98
R7938:Pcsk5 UTSW 19 17,443,549 (GRCm39) critical splice acceptor site probably null
R8025:Pcsk5 UTSW 19 17,538,415 (GRCm39) intron probably benign
R8032:Pcsk5 UTSW 19 17,692,151 (GRCm39) missense probably damaging 0.98
R8064:Pcsk5 UTSW 19 17,692,225 (GRCm39) missense probably damaging 1.00
R8115:Pcsk5 UTSW 19 17,487,530 (GRCm39) critical splice donor site probably null
R8193:Pcsk5 UTSW 19 17,563,415 (GRCm39) missense possibly damaging 0.64
R8408:Pcsk5 UTSW 19 17,410,809 (GRCm39) missense probably benign 0.00
R8466:Pcsk5 UTSW 19 17,549,864 (GRCm39) nonsense probably null
R8739:Pcsk5 UTSW 19 17,432,138 (GRCm39) missense probably benign 0.00
R8753:Pcsk5 UTSW 19 17,446,408 (GRCm39) missense probably benign 0.00
R8797:Pcsk5 UTSW 19 17,443,472 (GRCm39) missense probably benign 0.00
R8944:Pcsk5 UTSW 19 17,452,275 (GRCm39) missense probably damaging 0.96
R9041:Pcsk5 UTSW 19 17,538,132 (GRCm39) nonsense probably null
R9135:Pcsk5 UTSW 19 17,563,472 (GRCm39) missense
R9288:Pcsk5 UTSW 19 17,814,345 (GRCm39) missense probably benign 0.10
R9406:Pcsk5 UTSW 19 17,771,097 (GRCm39) missense probably benign 0.14
R9581:Pcsk5 UTSW 19 17,432,196 (GRCm39) missense probably benign
R9592:Pcsk5 UTSW 19 17,652,899 (GRCm39) nonsense probably null
R9659:Pcsk5 UTSW 19 17,455,245 (GRCm39) missense probably benign 0.00
R9788:Pcsk5 UTSW 19 17,455,245 (GRCm39) missense probably benign 0.00
X0023:Pcsk5 UTSW 19 17,452,236 (GRCm39) missense possibly damaging 0.66
X0063:Pcsk5 UTSW 19 17,424,968 (GRCm39) missense probably damaging 1.00
Z1088:Pcsk5 UTSW 19 17,440,738 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGAGTGTAGCCATATGTAGGC -3'
(R):5'- TGGGAAGAGACTGCGAATTC -3'

Sequencing Primer
(F):5'- GTAGGCCATTTTCACTTCCCAGAAAG -3'
(R):5'- GTAGATACTTGTCATAGCCTCGGTC -3'
Posted On 2018-10-18