Incidental Mutation 'IGL01444:Pcolce'
ID 84364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcolce
Ensembl Gene ENSMUSG00000029718
Gene Name procollagen C-endopeptidase enhancer protein
Synonyms Astt-2, Astt2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01444
Quality Score
Chromosome 5
Chromosomal Location 137605103-137613784 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137607476 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 200 (S200R)
Ref Sequence ENSEMBL: ENSMUSP00000115654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031731] [ENSMUST00000054564] [ENSMUST00000124693] [ENSMUST00000142675] [ENSMUST00000197912] [ENSMUST00000155251]
AlphaFold Q61398
Predicted Effect probably benign
Transcript: ENSMUST00000031731
AA Change: S218R

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: S218R

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 possibly damaging
Transcript: ENSMUST00000054564
AA Change: S243R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: S243R

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: ENSMUST00000124693
SMART Domains Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718

Pfam:CUB 1 63 2.4e-12 PFAM
Pfam:CUB 76 124 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137210
Predicted Effect probably damaging
Transcript: ENSMUST00000142675
AA Change: S200R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: S200R

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

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

CUB 8 111 1.92e-21 SMART
Pfam:CUB 121 169 1.6e-11 PFAM
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T G 11: 23,620,225 probably benign Het
Adad1 A T 3: 37,092,034 N517I probably damaging Het
Adam25 G A 8: 40,754,921 R408H probably benign Het
Ang C A 14: 51,101,667 Y88* probably null Het
Ankrd42 T C 7: 92,610,585 T327A probably damaging Het
Birc6 A G 17: 74,631,687 D2696G probably damaging Het
Chd3 G A 11: 69,348,742 T1717M probably benign Het
Csmd1 T A 8: 16,200,055 M970L probably benign Het
Dhx32 T C 7: 133,748,977 I121M possibly damaging Het
Dnah11 G A 12: 118,020,232 S2506F possibly damaging Het
Dscam T A 16: 96,673,709 I1218F possibly damaging Het
Duox1 T C 2: 122,340,090 L1197P probably damaging Het
Eps8l2 T C 7: 141,361,375 probably benign Het
Exoc3 T C 13: 74,206,935 K49R probably damaging Het
Exoc8 T A 8: 124,895,841 T596S possibly damaging Het
F13a1 C T 13: 36,918,577 G391R probably null Het
Fam35a C A 14: 34,237,557 V823F probably damaging Het
Fat3 A T 9: 15,998,848 S1953T probably damaging Het
Gls2 C A 10: 128,201,347 N252K probably damaging Het
Gm5346 A T 8: 43,626,433 D251E probably benign Het
Haus2 G A 2: 120,615,942 R115K probably benign Het
Ift122 A G 6: 115,884,379 K262E probably benign Het
Islr2 C T 9: 58,198,378 C533Y probably damaging Het
Lrp2 A T 2: 69,443,716 F3997I possibly damaging Het
Nt5c1a C T 4: 123,216,169 R354W probably damaging Het
Olfr776 T A 10: 129,261,335 C125S probably damaging Het
Plec A G 15: 76,179,297 V2213A possibly damaging Het
Prmt3 T A 7: 49,780,372 D74E probably benign Het
Ptk7 A G 17: 46,565,387 F1046S probably damaging Het
Ranbp2 T C 10: 58,475,300 Y887H possibly damaging Het
Sez6l2 G A 7: 126,961,883 E447K possibly damaging Het
Snrnp70 C T 7: 45,387,236 probably null Het
Timm10 T A 2: 84,829,864 V49E probably damaging Het
Tox2 T C 2: 163,225,466 probably benign Het
Usp20 T A 2: 30,998,789 M1K probably null Het
Usp32 A C 11: 85,059,164 L223V probably damaging Het
Zeb1 T C 18: 5,767,138 S550P probably benign Het
Zeb1 G T 18: 5,767,906 A806S probably damaging Het
Other mutations in Pcolce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:Pcolce APN 5 137605160 utr 3 prime probably benign
R0157:Pcolce UTSW 5 137610479 splice site probably null
R1585:Pcolce UTSW 5 137610507 nonsense probably null
R2307:Pcolce UTSW 5 137609094 missense probably damaging 0.99
R2507:Pcolce UTSW 5 137607051 missense possibly damaging 0.93
R3700:Pcolce UTSW 5 137609047 missense probably damaging 0.98
R4011:Pcolce UTSW 5 137605774 missense probably benign 0.00
R4223:Pcolce UTSW 5 137605127 utr 3 prime probably benign
R4983:Pcolce UTSW 5 137605674 intron probably benign
R5141:Pcolce UTSW 5 137605750 missense probably benign 0.05
R5626:Pcolce UTSW 5 137610399 missense probably damaging 0.99
R6223:Pcolce UTSW 5 137605299 missense probably damaging 1.00
R6241:Pcolce UTSW 5 137605234 missense probably benign 0.00
R6643:Pcolce UTSW 5 137608903 missense probably damaging 0.97
R6938:Pcolce UTSW 5 137605616 missense probably benign 0.11
R7583:Pcolce UTSW 5 137607445 missense probably benign 0.01
R7596:Pcolce UTSW 5 137606825 critical splice donor site probably null
R7703:Pcolce UTSW 5 137605212 missense probably benign 0.00
R7991:Pcolce UTSW 5 137609128 missense probably benign 0.04
R8012:Pcolce UTSW 5 137605195 missense probably benign 0.02
R8734:Pcolce UTSW 5 137611288 missense probably damaging 0.98
R9131:Pcolce UTSW 5 137605508 missense probably benign 0.01
R9272:Pcolce UTSW 5 137608071 missense probably benign 0.24
Posted On 2013-11-11