Incidental Mutation 'IGL01738:Pcsk5'
ID 105781
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 # IGL01738
Quality Score
Status
Chromosome 19
Chromosomal Location 17409683-17814996 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 17411144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025618]
AlphaFold Q04592
Predicted Effect probably benign
Transcript: ENSMUST00000025618
SMART Domains Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,436,668 (GRCm39) D288V probably damaging Het
Agtr1a G A 13: 30,565,021 (GRCm39) V29I probably benign Het
Akap6 G T 12: 52,933,600 (GRCm39) C364F probably damaging Het
Calcrl T G 2: 84,200,793 (GRCm39) M84L probably benign Het
Cep128 C A 12: 91,197,616 (GRCm39) G402C probably damaging Het
Cfap43 A G 19: 47,785,624 (GRCm39) L422P probably damaging Het
Cnbd2 C A 2: 156,217,537 (GRCm39) probably benign Het
Col27a1 A G 4: 63,182,016 (GRCm39) probably benign Het
Cyp3a44 A G 5: 145,731,745 (GRCm39) S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 (GRCm39) L179R possibly damaging Het
Ell T A 8: 71,034,331 (GRCm39) probably benign Het
Gfm1 A G 3: 67,363,994 (GRCm39) E490G probably benign Het
Glt1d1 T G 5: 127,709,419 (GRCm39) probably benign Het
Gm10267 A T 18: 44,292,342 (GRCm39) I10K possibly damaging Het
Htra4 A G 8: 25,515,727 (GRCm39) V437A probably damaging Het
Ighv1-69 T C 12: 115,587,061 (GRCm39) Q24R possibly damaging Het
Igkv14-111 G A 6: 68,233,443 (GRCm39) probably benign Het
Ipcef1 A T 10: 6,840,575 (GRCm39) I374N probably damaging Het
Iqgap1 T C 7: 80,373,648 (GRCm39) D1447G possibly damaging Het
Mast4 A G 13: 102,873,749 (GRCm39) F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 (GRCm39) N42I possibly damaging Het
Mybpc1 G T 10: 88,406,507 (GRCm39) F126L probably damaging Het
Myo1e A G 9: 70,266,652 (GRCm39) K631E probably damaging Het
Or8b43 A C 9: 38,360,942 (GRCm39) Y258S probably damaging Het
Serpina3b T G 12: 104,097,091 (GRCm39) L124R probably damaging Het
Srgap2 T C 1: 131,224,164 (GRCm39) I95V probably benign Het
Sstr5 A T 17: 25,710,584 (GRCm39) I215N probably damaging Het
Top3b G A 16: 16,698,468 (GRCm39) V104M probably benign Het
Tspan8 G A 10: 115,653,570 (GRCm39) probably null Het
Vmn2r102 A G 17: 19,898,020 (GRCm39) Y345C probably damaging Het
Vmn2r17 G A 5: 109,577,364 (GRCm39) G472S probably damaging Het
Zmpste24 A T 4: 120,918,308 (GRCm39) L438Q probably 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
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 2014-01-21