Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01444:Pcolce'

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

Status

Chromosome

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

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

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

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: 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: 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

Domain	Start	End	E-Value	Type
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

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: 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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