Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01566:Pcolce'

90997

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: 0.099) question?

Stock #

IGL01566

Quality Score

Status

Chromosome

Chromosomal Location

137603369-137609666 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 137603422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031731] [ENSMUST00000037620] [ENSMUST00000054564] [ENSMUST00000111007] [ENSMUST00000124693] [ENSMUST00000197912] [ENSMUST00000154708] [ENSMUST00000133705] [ENSMUST00000142675] [ENSMUST00000155251]

AlphaFold

Q61398

Predicted Effect

probably benign
Transcript: ENSMUST00000031731

SMART Domains

Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000146589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198801

Predicted Effect

probably benign
Transcript: ENSMUST00000197912

SMART Domains

Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Motile_Sperm	33	132	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133705

SMART Domains

Protein: ENSMUSP00000122462
Gene: ENSMUSG00000037221

Domain	Start	End	E-Value	Type
SCOP:d1grwa_	34	74	7e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142675

SMART Domains

Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
CUB	18	130	3.79e-43	SMART
CUB	140	214	2.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155251

SMART Domains

Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,447,285 (GRCm39)	V149A	possibly damaging	Het
Casc3	T	C	11: 98,714,227 (GRCm39)		probably null	Het
Dhdds	T	C	4: 133,718,648 (GRCm39)	I162V	probably damaging	Het
Dsg1a	T	C	18: 20,469,840 (GRCm39)		probably benign	Het
E030025P04Rik	T	A	11: 109,034,714 (GRCm39)	D58V	unknown	Het
Gcn1	A	G	5: 115,749,117 (GRCm39)	N1883S	probably damaging	Het
Gucy1a2	T	C	9: 3,634,661 (GRCm39)	L235P	probably damaging	Het
Jkampl	G	A	6: 73,445,673 (GRCm39)	T292I	probably damaging	Het
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Mme	T	C	3: 63,269,350 (GRCm39)		probably benign	Het
Nr6a1	G	T	2: 38,617,901 (GRCm39)	Q419K	probably benign	Het
Ppp2cb	C	A	8: 34,101,791 (GRCm39)	R110S	probably benign	Het
Slc35f1	A	G	10: 52,965,551 (GRCm39)	Y322C	probably damaging	Het
Slc5a3	T	C	16: 91,874,465 (GRCm39)	V174A	probably damaging	Het
St8sia4	G	T	1: 95,581,482 (GRCm39)	R87S	probably benign	Het
Tfdp2	A	G	9: 96,177,083 (GRCm39)	E5G	probably damaging	Het
Tmem161b	T	C	13: 84,442,881 (GRCm39)	I267T	probably benign	Het
Ttn	A	G	2: 76,782,365 (GRCm39)	L957P	probably damaging	Het
Ttn	A	G	2: 76,612,445 (GRCm39)		probably benign	Het
Ubqln1	A	T	13: 58,327,481 (GRCm39)		probably null	Het
Wdfy3	A	C	5: 102,044,454 (GRCm39)		probably benign	Het

Other mutations in Pcolce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Pcolce	APN	5	137,605,738 (GRCm39)	missense	probably damaging	0.98
R0157:Pcolce	UTSW	5	137,608,741 (GRCm39)	splice site	probably null
R1585:Pcolce	UTSW	5	137,608,769 (GRCm39)	nonsense	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

Posted On

2013-12-09