Incidental Mutation 'R1585:Pcolce'
ID 177426
Institutional Source Beutler Lab
Gene Symbol Pcolce
Ensembl Gene ENSMUSG00000029718
Gene Name procollagen C-endopeptidase enhancer protein
Synonyms Astt-2, Astt2
MMRRC Submission 039622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1585 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137603369-137609666 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 137608769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 13 (R13*)
Ref Sequence ENSEMBL: ENSMUSP00000115654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031731] [ENSMUST00000031732] [ENSMUST00000054564] [ENSMUST00000111002] [ENSMUST00000124693] [ENSMUST00000142675] [ENSMUST00000197912] [ENSMUST00000155251] [ENSMUST00000136028]
AlphaFold Q61398
Predicted Effect probably null
Transcript: ENSMUST00000031731
SMART Domains Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
CUB 36 148 3.79e-43 SMART
CUB 158 272 3e-46 SMART
low complexity region 299 314 N/A INTRINSIC
low complexity region 323 338 N/A INTRINSIC
C345C 352 458 3.92e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031732
SMART Domains Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984

DomainStartEndE-ValueType
FBOX 29 69 1.48e-7 SMART
Pfam:RCC1 386 432 2.2e-10 PFAM
low complexity region 442 455 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000054564
SMART Domains Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
CUB 36 148 3.79e-43 SMART
CUB 183 297 3e-46 SMART
low complexity region 324 339 N/A INTRINSIC
low complexity region 348 363 N/A INTRINSIC
C345C 377 483 3.92e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111002
SMART Domains Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984

DomainStartEndE-ValueType
Pfam:RCC1 247 293 4.2e-11 PFAM
low complexity region 303 316 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000124693
SMART Domains Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718

DomainStartEndE-ValueType
Pfam:CUB 1 63 2.4e-12 PFAM
Pfam:CUB 76 124 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128755
Predicted Effect probably null
Transcript: ENSMUST00000142675
AA Change: R13*
SMART Domains Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: R13*

DomainStartEndE-ValueType
CUB 18 130 3.79e-43 SMART
CUB 140 214 2.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136649
Predicted Effect probably benign
Transcript: ENSMUST00000197912
SMART Domains Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718

DomainStartEndE-ValueType
CUB 1 107 2.2e-36 SMART
C345C 130 236 1.3e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155251
SMART Domains Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718

DomainStartEndE-ValueType
CUB 8 111 1.92e-21 SMART
Pfam:CUB 121 169 1.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136028
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.2%
Validation Efficiency 95% (81/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in thickened cortical and trabecular bone and abnormal collagen fibrils in both mineralized and nonmineralized tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,858,518 (GRCm39) I50F possibly damaging Het
4930505A04Rik T C 11: 30,377,175 (GRCm39) probably benign Het
Aadat A T 8: 60,979,714 (GRCm39) D192V possibly damaging Het
Akap12 A G 10: 4,303,640 (GRCm39) D150G probably benign Het
Amigo3 A T 9: 107,931,231 (GRCm39) N218I probably damaging Het
Ankmy1 A G 1: 92,827,373 (GRCm39) S60P probably benign Het
Apol7e G A 15: 77,602,029 (GRCm39) S209N probably damaging Het
AW551984 A T 9: 39,510,632 (GRCm39) Y234* probably null Het
Bcam A T 7: 19,494,111 (GRCm39) D393E probably damaging Het
Card9 A G 2: 26,244,398 (GRCm39) L444P probably benign Het
Ccar1 T C 10: 62,586,780 (GRCm39) E886G unknown Het
Ccnb2 A T 9: 70,317,559 (GRCm39) probably null Het
Cd276 T C 9: 58,442,838 (GRCm39) S206G probably damaging Het
Cds1 T A 5: 101,965,828 (GRCm39) probably benign Het
Cfap96 G A 8: 46,409,515 (GRCm39) S268L probably benign Het
Chuk T C 19: 44,065,812 (GRCm39) S661G possibly damaging Het
Col17a1 T C 19: 47,639,276 (GRCm39) N1090D probably benign Het
Col3a1 A T 1: 45,367,026 (GRCm39) probably null Het
Crispld1 G T 1: 17,821,024 (GRCm39) V355F possibly damaging Het
Cspg4 A T 9: 56,806,151 (GRCm39) R2321W probably damaging Het
Dner T C 1: 84,563,177 (GRCm39) T61A probably benign Het
Dnmt3a A T 12: 3,951,660 (GRCm39) Y679F probably damaging Het
Dzip3 A T 16: 48,798,241 (GRCm39) probably benign Het
Eif3l T C 15: 78,968,381 (GRCm39) S217P possibly damaging Het
Fbxo42 T A 4: 140,925,417 (GRCm39) probably benign Het
Fhod1 A T 8: 106,063,957 (GRCm39) probably benign Het
Fzd1 T A 5: 4,806,278 (GRCm39) I435F probably damaging Het
Gapvd1 C T 2: 34,602,207 (GRCm39) V647I possibly damaging Het
Gm14496 T C 2: 181,638,002 (GRCm39) S359P possibly damaging Het
Gm5218 C A 15: 81,383,741 (GRCm39) noncoding transcript Het
Hnrnph3 A G 10: 62,851,579 (GRCm39) probably null Het
Hsd17b12 G T 2: 93,864,321 (GRCm39) T262K probably damaging Het
Igsf10 G C 3: 59,237,838 (GRCm39) P781R probably damaging Het
Il11ra1 T A 4: 41,768,207 (GRCm39) S373T probably damaging Het
Kdm3b A G 18: 34,942,345 (GRCm39) D612G probably damaging Het
Ldb1 T C 19: 46,022,903 (GRCm39) T261A probably damaging Het
Lep C A 6: 29,069,089 (GRCm39) H47N possibly damaging Het
Lrrtm2 A T 18: 35,346,428 (GRCm39) S291R possibly damaging Het
Ncor2 T C 5: 125,162,062 (GRCm39) Q404R unknown Het
Nlrp4d T C 7: 10,116,437 (GRCm39) H148R probably benign Het
Nlrp9a T A 7: 26,258,093 (GRCm39) D570E probably benign Het
Nphp3 G A 9: 103,886,413 (GRCm39) V202I probably damaging Het
Nptn T A 9: 58,548,073 (GRCm39) N159K probably benign Het
Or4a69 T A 2: 89,313,315 (GRCm39) T55S probably benign Het
Or4a72 A T 2: 89,405,746 (GRCm39) V108D possibly damaging Het
Or51f2 G A 7: 102,526,980 (GRCm39) V218I probably benign Het
Or52a24 A T 7: 103,381,585 (GRCm39) T151S possibly damaging Het
Or8b53 A T 9: 38,667,716 (GRCm39) H244L probably damaging Het
Pdgfra A G 5: 75,353,264 (GRCm39) Y1018C probably damaging Het
Prima1 A G 12: 103,201,854 (GRCm39) S74P probably damaging Het
Prl7c1 A G 13: 27,962,838 (GRCm39) L55P probably damaging Het
Rasef A G 4: 73,658,574 (GRCm39) V513A probably damaging Het
Rgs1 T C 1: 144,121,227 (GRCm39) probably null Het
Rlf T C 4: 121,005,488 (GRCm39) E1164G probably benign Het
Rnf213 A T 11: 119,354,171 (GRCm39) N4016I probably damaging Het
Sae1 C T 7: 16,064,537 (GRCm39) probably null Het
Serping1 A T 2: 84,601,848 (GRCm39) D207E probably benign Het
Setd2 T A 9: 110,380,464 (GRCm39) D33E unknown Het
Simc1 T C 13: 54,673,071 (GRCm39) M473T probably benign Het
Slc30a6 T A 17: 74,725,610 (GRCm39) probably benign Het
Slc4a5 T C 6: 83,242,669 (GRCm39) L346P probably damaging Het
Spef2 T A 15: 9,596,660 (GRCm39) Q1473L probably damaging Het
St3gal3 G T 4: 117,817,204 (GRCm39) A44D possibly damaging Het
Sv2b G T 7: 74,797,425 (GRCm39) T323K probably damaging Het
Sycp2 T A 2: 177,993,461 (GRCm39) N1228I possibly damaging Het
Thbs2 T A 17: 14,910,030 (GRCm39) M190L probably benign Het
Tnrc6a G A 7: 122,776,098 (GRCm39) V1190I probably benign Het
Utrn A T 10: 12,312,029 (GRCm39) I673K possibly damaging Het
Vmn2r114 C T 17: 23,510,675 (GRCm39) V602M probably damaging Het
Wdr7 A T 18: 64,057,989 (GRCm39) I1273L probably benign Het
Zfp618 T C 4: 63,051,175 (GRCm39) L652P probably damaging Het
Zfp804a G A 2: 81,884,095 (GRCm39) probably benign Het
Other mutations in Pcolce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Pcolce APN 5 137,605,738 (GRCm39) missense probably damaging 0.98
IGL01566:Pcolce APN 5 137,603,422 (GRCm39) utr 3 prime probably benign
R0157:Pcolce UTSW 5 137,608,741 (GRCm39) splice site probably null
R2307:Pcolce UTSW 5 137,607,356 (GRCm39) missense probably damaging 0.99
R2507:Pcolce UTSW 5 137,605,313 (GRCm39) missense possibly damaging 0.93
R3700:Pcolce UTSW 5 137,607,309 (GRCm39) missense probably damaging 0.98
R4011:Pcolce UTSW 5 137,604,036 (GRCm39) missense probably benign 0.00
R4223:Pcolce UTSW 5 137,603,389 (GRCm39) utr 3 prime probably benign
R4983:Pcolce UTSW 5 137,603,936 (GRCm39) intron probably benign
R5141:Pcolce UTSW 5 137,604,012 (GRCm39) missense probably benign 0.05
R5626:Pcolce UTSW 5 137,608,661 (GRCm39) missense probably damaging 0.99
R6223:Pcolce UTSW 5 137,603,561 (GRCm39) missense probably damaging 1.00
R6241:Pcolce UTSW 5 137,603,496 (GRCm39) missense probably benign 0.00
R6643:Pcolce UTSW 5 137,607,165 (GRCm39) missense probably damaging 0.97
R6938:Pcolce UTSW 5 137,603,878 (GRCm39) missense probably benign 0.11
R7583:Pcolce UTSW 5 137,605,707 (GRCm39) missense probably benign 0.01
R7596:Pcolce UTSW 5 137,605,087 (GRCm39) critical splice donor site probably null
R7703:Pcolce UTSW 5 137,603,474 (GRCm39) missense probably benign 0.00
R7991:Pcolce UTSW 5 137,607,390 (GRCm39) missense probably benign 0.04
R8012:Pcolce UTSW 5 137,603,457 (GRCm39) missense probably benign 0.02
R8734:Pcolce UTSW 5 137,609,550 (GRCm39) missense probably damaging 0.98
R9131:Pcolce UTSW 5 137,603,770 (GRCm39) missense probably benign 0.01
R9272:Pcolce UTSW 5 137,606,333 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AAGAGGGTTTCCCAGAGGTGATGC -3'
(R):5'- CACATCTGGAAGTAGTTAGGCGGC -3'

Sequencing Primer
(F):5'- TGTCCCTGGGCTGTCAAG -3'
(R):5'- AATTCCTGGCAGCGTGG -3'
Posted On 2014-04-24