Incidental Mutation 'R6102:Pcsk4'
ID 485321
Institutional Source Beutler Lab
Gene Symbol Pcsk4
Ensembl Gene ENSMUSG00000020131
Gene Name proprotein convertase subtilisin/kexin type 4
Synonyms PC4, SPC5
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80157117-80165332 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 80161651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 163 (Y163*)
Ref Sequence ENSEMBL: ENSMUSP00000137719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020340] [ENSMUST00000040081] [ENSMUST00000105354] [ENSMUST00000105355] [ENSMUST00000105357] [ENSMUST00000105358] [ENSMUST00000135071] [ENSMUST00000128653] [ENSMUST00000186864]
AlphaFold P29121
Predicted Effect probably null
Transcript: ENSMUST00000020340
AA Change: Y180*
SMART Domains Protein: ENSMUSP00000020340
Gene: ENSMUSG00000020131
AA Change: Y180*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:S8_pro-domain 34 110 1.2e-24 PFAM
Pfam:Peptidase_S8 146 429 3.1e-50 PFAM
Pfam:P_proprotein 488 574 5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040081
SMART Domains Protein: ENSMUSP00000043722
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 118 8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105354
SMART Domains Protein: ENSMUSP00000100991
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 144 5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105355
SMART Domains Protein: ENSMUSP00000100992
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 144 3.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105357
SMART Domains Protein: ENSMUSP00000100994
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
low complexity region 22 61 N/A INTRINSIC
low complexity region 108 129 N/A INTRINSIC
low complexity region 297 319 N/A INTRINSIC
low complexity region 340 352 N/A INTRINSIC
low complexity region 411 428 N/A INTRINSIC
SCOP:d1gkub1 434 465 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105358
SMART Domains Protein: ENSMUSP00000100995
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
low complexity region 22 61 N/A INTRINSIC
low complexity region 108 129 N/A INTRINSIC
low complexity region 324 346 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
low complexity region 438 455 N/A INTRINSIC
SCOP:d1gkub1 461 492 8e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000135071
AA Change: Y163*
SMART Domains Protein: ENSMUSP00000137719
Gene: ENSMUSG00000020131
AA Change: Y163*

DomainStartEndE-ValueType
SCOP:d1kn6a_ 14 85 3e-27 SMART
Pfam:Peptidase_S8 133 187 1.7e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000128653
AA Change: Y180*
SMART Domains Protein: ENSMUSP00000137809
Gene: ENSMUSG00000020131
AA Change: Y180*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SCOP:d1kn6a_ 31 102 8e-29 SMART
Pfam:Peptidase_S8 150 242 6.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153167
Predicted Effect probably benign
Transcript: ENSMUST00000186864
SMART Domains Protein: ENSMUSP00000140840
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 144 5e-36 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even 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. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]
PHENOTYPE: Inactivation of this locus results in significantly reduced male fertility, putatively due to impaired fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably damaging Het
Other mutations in Pcsk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Pcsk4 APN 10 80,158,657 (GRCm39) missense probably damaging 1.00
IGL02818:Pcsk4 APN 10 80,158,626 (GRCm39) missense probably damaging 0.98
IGL03115:Pcsk4 APN 10 80,164,883 (GRCm39) missense probably damaging 1.00
IGL03354:Pcsk4 APN 10 80,161,893 (GRCm39) missense probably damaging 0.99
R0538:Pcsk4 UTSW 10 80,161,168 (GRCm39) missense probably damaging 1.00
R0760:Pcsk4 UTSW 10 80,161,775 (GRCm39) unclassified probably benign
R1462:Pcsk4 UTSW 10 80,161,815 (GRCm39) missense probably damaging 1.00
R1462:Pcsk4 UTSW 10 80,161,815 (GRCm39) missense probably damaging 1.00
R1554:Pcsk4 UTSW 10 80,157,785 (GRCm39) missense probably benign 0.01
R1728:Pcsk4 UTSW 10 80,159,404 (GRCm39) missense probably damaging 0.99
R1784:Pcsk4 UTSW 10 80,159,404 (GRCm39) missense probably damaging 0.99
R1886:Pcsk4 UTSW 10 80,164,794 (GRCm39) missense probably benign 0.32
R1981:Pcsk4 UTSW 10 80,161,613 (GRCm39) missense probably damaging 1.00
R2090:Pcsk4 UTSW 10 80,161,655 (GRCm39) missense probably benign 0.02
R2125:Pcsk4 UTSW 10 80,159,713 (GRCm39) missense probably benign 0.32
R2283:Pcsk4 UTSW 10 80,158,584 (GRCm39) missense probably damaging 1.00
R4183:Pcsk4 UTSW 10 80,160,845 (GRCm39) missense probably benign 0.12
R4283:Pcsk4 UTSW 10 80,165,287 (GRCm39) unclassified probably benign
R4798:Pcsk4 UTSW 10 80,158,938 (GRCm39) missense probably damaging 1.00
R4857:Pcsk4 UTSW 10 80,160,873 (GRCm39) missense probably damaging 1.00
R4990:Pcsk4 UTSW 10 80,161,215 (GRCm39) missense possibly damaging 0.74
R4991:Pcsk4 UTSW 10 80,161,215 (GRCm39) missense possibly damaging 0.74
R5020:Pcsk4 UTSW 10 80,161,869 (GRCm39) missense probably benign 0.00
R5123:Pcsk4 UTSW 10 80,157,979 (GRCm39) missense probably null 0.56
R5354:Pcsk4 UTSW 10 80,159,523 (GRCm39) missense probably damaging 0.98
R6077:Pcsk4 UTSW 10 80,162,073 (GRCm39) missense probably damaging 0.99
R6250:Pcsk4 UTSW 10 80,161,426 (GRCm39) missense probably benign 0.04
R6378:Pcsk4 UTSW 10 80,164,809 (GRCm39) missense probably benign 0.34
R6729:Pcsk4 UTSW 10 80,160,935 (GRCm39) missense probably damaging 0.99
R7308:Pcsk4 UTSW 10 80,159,007 (GRCm39) missense probably benign 0.41
R7595:Pcsk4 UTSW 10 80,157,935 (GRCm39) missense possibly damaging 0.84
R8004:Pcsk4 UTSW 10 80,158,674 (GRCm39) missense probably damaging 1.00
R8675:Pcsk4 UTSW 10 80,158,896 (GRCm39) missense probably damaging 1.00
R8777:Pcsk4 UTSW 10 80,159,557 (GRCm39) missense probably benign 0.29
R8777-TAIL:Pcsk4 UTSW 10 80,159,557 (GRCm39) missense probably benign 0.29
R9030:Pcsk4 UTSW 10 80,164,858 (GRCm39) missense probably damaging 1.00
R9262:Pcsk4 UTSW 10 80,160,864 (GRCm39) missense probably damaging 1.00
R9278:Pcsk4 UTSW 10 80,161,224 (GRCm39) missense probably damaging 1.00
R9526:Pcsk4 UTSW 10 80,161,800 (GRCm39) missense probably damaging 0.96
R9546:Pcsk4 UTSW 10 80,157,741 (GRCm39) missense possibly damaging 0.59
R9733:Pcsk4 UTSW 10 80,158,034 (GRCm39) missense probably damaging 0.99
Z1176:Pcsk4 UTSW 10 80,158,560 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AATTCTAGCATTGAAGGCCACAC -3'
(R):5'- CATTGAGAAAGACCACCCGG -3'

Sequencing Primer
(F):5'- CACAGAAACCGTTGTTAGCTG -3'
(R):5'- CCGGACCTCTGGGCTAATTATG -3'
Posted On 2017-08-16