Incidental Mutation 'IGL01566:Pcolce'
ID90997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcolce
Ensembl Gene ENSMUSG00000029718
Gene Nameprocollagen C-endopeptidase enhancer protein
SynonymsAstt-2, Astt2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01566
Quality Score
Status
Chromosome5
Chromosomal Location137605103-137613784 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 137605160 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031731] [ENSMUST00000037620] [ENSMUST00000054564] [ENSMUST00000111007] [ENSMUST00000124693] [ENSMUST00000133705] [ENSMUST00000142675] [ENSMUST00000197912] [ENSMUST00000154708] [ENSMUST00000155251]
Predicted Effect probably benign
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: ENSMUST00000037620
SMART Domains Protein: ENSMUSP00000040828
Gene: ENSMUSG00000037221

DomainStartEndE-ValueType
Pfam:Motile_Sperm 33 133 1.2e-17 PFAM
transmembrane domain 176 198 N/A INTRINSIC
transmembrane domain 213 232 N/A INTRINSIC
Predicted Effect probably benign
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: ENSMUST00000111007
SMART Domains Protein: ENSMUSP00000106636
Gene: ENSMUSG00000037221

DomainStartEndE-ValueType
Pfam:Motile_Sperm 33 132 3.5e-17 PFAM
transmembrane domain 176 198 N/A INTRINSIC
transmembrane domain 213 232 N/A INTRINSIC
Predicted Effect probably benign
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: ENSMUST00000126904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131703
Predicted Effect probably benign
Transcript: ENSMUST00000133705
SMART Domains Protein: ENSMUSP00000122462
Gene: ENSMUSG00000037221

DomainStartEndE-ValueType
SCOP:d1grwa_ 34 74 7e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137210
Predicted Effect probably benign
Transcript: ENSMUST00000142675
SMART Domains Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000196366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198801
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: ENSMUST00000154708
SMART Domains Protein: ENSMUSP00000116851
Gene: ENSMUSG00000037221

DomainStartEndE-ValueType
Pfam:Motile_Sperm 33 132 2.3e-17 PFAM
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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in Pcolce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Pcolce APN 5 137607476 missense probably damaging 0.98
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
Posted On2013-12-09