Incidental Mutation 'IGL01315:Pcsk5'
ID 73832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcsk5
Ensembl Gene ENSMUSG00000024713
Gene Name proprotein convertase subtilisin/kexin type 5
Synonyms PC5A, PC5/6A, PC6, b2b1549Clo, b2b585Clo, SPC6
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01315
Quality Score
Status
Chromosome 19
Chromosomal Location 17409683-17814996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17429322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1552 (T1552I)
Ref Sequence ENSEMBL: ENSMUSP00000025618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025618]
AlphaFold Q04592
Predicted Effect probably damaging
Transcript: ENSMUST00000025618
AA Change: T1552I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: T1552I

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
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 31,050,578 (GRCm39) S409P probably benign Het
Ankdd1a T A 9: 65,415,984 (GRCm39) H187L probably damaging Het
Ap2a1 A T 7: 44,565,713 (GRCm39) D51E possibly damaging Het
Ccn3 T C 15: 54,612,656 (GRCm39) S222P probably damaging Het
Cog5 T A 12: 31,810,985 (GRCm39) probably benign Het
Eif3h T C 15: 51,705,881 (GRCm39) D91G probably damaging Het
Ell2 A G 13: 75,910,351 (GRCm39) probably benign Het
Epha4 A G 1: 77,375,194 (GRCm39) V551A probably benign Het
Gpc2 A G 5: 138,274,301 (GRCm39) S354P probably benign Het
Gramd1a A G 7: 30,841,993 (GRCm39) F140L probably damaging Het
Hnmt A G 2: 23,909,180 (GRCm39) Y78H probably benign Het
Ighe T A 12: 113,234,972 (GRCm39) H396L unknown Het
Krt87 A G 15: 101,384,848 (GRCm39) probably benign Het
Mgat5b T C 11: 116,814,215 (GRCm39) S40P probably damaging Het
Mov10 A G 3: 104,703,261 (GRCm39) V876A probably damaging Het
Nbeal1 T C 1: 60,320,500 (GRCm39) V2031A probably damaging Het
Ntm T A 9: 28,925,480 (GRCm39) S26C probably damaging Het
Pex1 A T 5: 3,659,975 (GRCm39) D453V probably damaging Het
Pkd2l1 C T 19: 44,180,635 (GRCm39) D27N probably benign Het
Plppr5 G T 3: 117,456,175 (GRCm39) C232F probably damaging Het
Slc39a2 G T 14: 52,132,593 (GRCm39) E179* probably null Het
Slc8a3 A G 12: 81,361,169 (GRCm39) V550A probably damaging Het
Smc5 T A 19: 23,208,968 (GRCm39) T626S probably benign Het
Tars1 A C 15: 11,389,820 (GRCm39) Y363* probably null Het
Unc79 T C 12: 103,054,780 (GRCm39) I906T possibly damaging Het
Ush2a C T 1: 188,365,811 (GRCm39) P2222S possibly damaging Het
Wdr31 A C 4: 62,374,074 (GRCm39) V306G probably damaging Het
Zdhhc1 C A 8: 106,199,630 (GRCm39) R389S probably benign 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
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
R6837:Pcsk5 UTSW 19 17,416,448 (GRCm39) missense probably benign 0.01
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
Posted On 2013-10-07