Incidental Mutation 'R1703:Pcsk5'
ID 189935
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 039736-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1703 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 17409683-17814996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17729458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 129 (N129S)
Ref Sequence ENSEMBL: ENSMUSP00000050272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025618] [ENSMUST00000050715]
AlphaFold Q04592
Predicted Effect probably benign
Transcript: ENSMUST00000025618
AA Change: N129S

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: N129S

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
Predicted Effect probably benign
Transcript: ENSMUST00000050715
AA Change: N129S

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050272
Gene: ENSMUSG00000024713
AA Change: N129S

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
PDB:1KN6|A 35 116 6e-11 PDB
Pfam:Peptidase_S8 168 456 2.9e-59 PFAM
Pfam:P_proprotein 507 597 1.5e-34 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 834 884 1.4e-8 SMART
EGF_like 839 870 3.43e1 SMART
Meta Mutation Damage Score 0.0658 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 99% (86/87)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,431 (GRCm39) Y401* probably null Het
4932415M13Rik C A 17: 54,032,065 (GRCm39) noncoding transcript Het
Abtb3 A G 10: 85,223,248 (GRCm39) D19G unknown Het
Acoxl T A 2: 127,820,692 (GRCm39) S81R probably damaging Het
Adamtsl4 A G 3: 95,584,924 (GRCm39) C915R probably damaging Het
Adgra3 C T 5: 50,164,117 (GRCm39) M287I probably benign Het
Afg1l T G 10: 42,276,395 (GRCm39) D250A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Amfr T C 8: 94,700,871 (GRCm39) T530A probably benign Het
Ank2 C T 3: 126,723,415 (GRCm39) V971M probably damaging Het
App A G 16: 84,762,656 (GRCm39) S656P probably damaging Het
Arid5a T A 1: 36,358,656 (GRCm39) probably null Het
Asic5 T A 3: 81,907,029 (GRCm39) V60D possibly damaging Het
Atm G T 9: 53,412,000 (GRCm39) H1019N probably benign Het
Cep250 A G 2: 155,807,466 (GRCm39) K277R probably benign Het
Chrna7 C T 7: 62,749,255 (GRCm39) R409H probably damaging Het
Chrng A T 1: 87,138,628 (GRCm39) N419I possibly damaging Het
Ciao1 T C 2: 127,087,739 (GRCm39) S199G probably benign Het
Clstn2 A T 9: 97,340,290 (GRCm39) M694K possibly damaging Het
Cpeb2 A G 5: 43,391,181 (GRCm39) probably benign Het
Cyp2c69 T A 19: 39,864,810 (GRCm39) I223F probably benign Het
Dennd1b A T 1: 139,097,492 (GRCm39) probably null Het
Dnah17 A T 11: 117,917,575 (GRCm39) L4162Q probably damaging Het
Dnm1 T C 2: 32,213,463 (GRCm39) M506V probably benign Het
Ecsit A G 9: 21,986,107 (GRCm39) V173A probably damaging Het
Fam13b T C 18: 34,584,492 (GRCm39) probably null Het
Fgl2 T A 5: 21,577,730 (GRCm39) W6R possibly damaging Het
Galnt9 G A 5: 110,767,038 (GRCm39) R503H probably damaging Het
Gramd1a C T 7: 30,838,959 (GRCm39) V247M possibly damaging Het
Grip2 A T 6: 91,754,379 (GRCm39) I632N probably damaging Het
Hspg2 T C 4: 137,286,462 (GRCm39) V3627A probably damaging Het
Ipo8 T C 6: 148,691,390 (GRCm39) Y660C probably benign Het
Isg15 T C 4: 156,284,265 (GRCm39) R88G possibly damaging Het
Itgb5 T A 16: 33,730,870 (GRCm39) D388E probably benign Het
Jhy T C 9: 40,856,133 (GRCm39) Y118C probably damaging Het
Kalrn G A 16: 34,025,696 (GRCm39) T931M probably damaging Het
Kif21a A G 15: 90,833,250 (GRCm39) probably null Het
Lama2 A T 10: 27,142,667 (GRCm39) Y604N probably damaging Het
Lrp3 T G 7: 34,912,586 (GRCm39) S34R possibly damaging Het
Lrrc37 C T 11: 103,431,700 (GRCm39) V1372I probably benign Het
Lyn T C 4: 3,738,867 (GRCm39) probably null Het
Mroh8 C T 2: 157,113,896 (GRCm39) V132I probably benign Het
Mthfd1l T C 10: 4,098,093 (GRCm39) F977L probably damaging Het
Nol8 C T 13: 49,820,933 (GRCm39) T912M possibly damaging Het
Nrxn1 A T 17: 90,515,845 (GRCm39) N169K probably damaging Het
Oplah A G 15: 76,180,867 (GRCm39) Y1279H probably benign Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or4c101 T A 2: 88,390,599 (GRCm39) M262K possibly damaging Het
Pcyt2 G T 11: 120,503,894 (GRCm39) P185T probably benign Het
Pdlim2 A G 14: 70,411,784 (GRCm39) probably null Het
Pgs1 T C 11: 117,905,554 (GRCm39) probably benign Het
Qprt A G 7: 126,707,343 (GRCm39) V251A probably benign Het
Rasal2 A C 1: 156,985,170 (GRCm39) L834R probably damaging Het
Reg1 T C 6: 78,405,432 (GRCm39) C161R probably damaging Het
Rp1 T A 1: 4,415,392 (GRCm39) I1907F probably damaging Het
S1pr5 T C 9: 21,155,346 (GRCm39) D360G possibly damaging Het
Sart3 C A 5: 113,890,280 (GRCm39) V482F probably benign Het
Scarf2 A G 16: 17,620,713 (GRCm39) E127G probably damaging Het
Serinc5 T C 13: 92,825,305 (GRCm39) S245P probably damaging Het
Serpinc1 G T 1: 160,821,087 (GRCm39) R57L probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sgca A T 11: 94,860,217 (GRCm39) L307M probably damaging Het
Slc7a9 C A 7: 35,154,000 (GRCm39) Q208K probably benign Het
Slfn10-ps C T 11: 82,920,869 (GRCm39) noncoding transcript Het
Spam1 A T 6: 24,796,256 (GRCm39) D69V probably damaging Het
Tanc1 A G 2: 59,673,365 (GRCm39) E1490G probably benign Het
Tbc1d22a G T 15: 86,123,416 (GRCm39) D150Y probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tlx1 A G 19: 45,144,443 (GRCm39) D55G possibly damaging Het
Tram2 G T 1: 21,074,458 (GRCm39) N241K probably damaging Het
Ttc23l T C 15: 10,523,744 (GRCm39) Y325C probably damaging Het
Ubac2 T A 14: 122,142,582 (GRCm39) S27T probably benign Het
Utrn G A 10: 12,603,473 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,828 (GRCm39) M378L probably benign Het
Vps18 T A 2: 119,119,538 (GRCm39) D6E probably benign Het
Xkr5 T A 8: 18,989,134 (GRCm39) I253F probably benign Het
Yeats4 A T 10: 117,051,628 (GRCm39) C210S probably benign Het
Zdhhc20 A G 14: 58,076,545 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- CATGCTTGCACCTAAACTGGCTTC -3'
(R):5'- AAATGCTTTGGCCTGCCATTTCTG -3'

Sequencing Primer
(F):5'- CCTAGTGTCATCATGAACTCAGGG -3'
(R):5'- CTGCCATTTCTGTTATGTGAACTG -3'
Posted On 2014-05-14