Mutagenetix > Incidental Mutation

Incidental Mutation 'R5626:Pcolce'

501336

Institutional Source

Beutler Lab

Gene Symbol

Pcolce

Ensembl Gene

ENSMUSG00000029718

Gene Name

procollagen C-endopeptidase enhancer protein

Synonyms

Astt-2, Astt2

MMRRC Submission

043165-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137603369-137609666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137608661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 26 (T26S)

Ref Sequence

ENSEMBL: ENSMUSP00000142608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031731] [ENSMUST00000031732] [ENSMUST00000054564] [ENSMUST00000111002] [ENSMUST00000124693] [ENSMUST00000142675] [ENSMUST00000197912] [ENSMUST00000155251] [ENSMUST00000136028]

AlphaFold

Q61398

Predicted Effect

probably benign
Transcript: ENSMUST00000031731
AA Change: T67S

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: T67S

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: ENSMUST00000031732

SMART Domains

Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000054564
AA Change: T67S

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: T67S

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: ENSMUST00000111002

SMART Domains

Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984

Domain	Start	End	E-Value	Type
Pfam:RCC1	247	293	4.2e-11	PFAM
low complexity region	303	316	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: ENSMUST00000128755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137210

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142675
AA Change: T49S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: T49S

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: ENSMUST00000148662

Predicted Effect

probably damaging
Transcript: ENSMUST00000197912
AA Change: T26S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718
AA Change: T26S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196660

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	C	3: 137,986,171 (GRCm39)	V53L	probably benign	Het
Arfgap2	C	T	2: 91,105,737 (GRCm39)	Q514*	probably null	Het
Calhm2	A	C	19: 47,121,558 (GRCm39)	C204G	probably damaging	Het
Carhsp1	T	C	16: 8,478,897 (GRCm39)	N119D	probably benign	Het
Cfap57	A	G	4: 118,471,980 (GRCm39)	L133P	probably damaging	Het
Clcn4	A	T	7: 7,292,017 (GRCm39)	V598E	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 131,661,581 (GRCm39)		probably benign	Het
Ddi1	T	C	9: 6,266,003 (GRCm39)	H122R	probably benign	Het
Dync1h1	A	G	12: 110,607,575 (GRCm39)	T2697A	probably benign	Het
Ednrb	T	A	14: 104,080,564 (GRCm39)	I117F	probably damaging	Het
Egflam	A	G	15: 7,280,688 (GRCm39)	S446P	possibly damaging	Het
F5	A	G	1: 164,036,604 (GRCm39)	I1922V	probably damaging	Het
Gpc1	T	A	1: 92,784,841 (GRCm39)		probably null	Het
Gphn	A	C	12: 78,730,671 (GRCm39)	I769L	probably benign	Het
Grid2	T	C	6: 64,053,929 (GRCm39)		probably null	Het
Hira	G	T	16: 18,746,262 (GRCm39)	Q468H	probably damaging	Het
Hmcn1	C	T	1: 150,532,318 (GRCm39)	G3154E	probably damaging	Het
Ighv16-1	G	A	12: 114,032,472 (GRCm39)	T92M	probably damaging	Het
Lcmt2	T	C	2: 120,969,943 (GRCm39)	E380G	probably benign	Het
Ms4a14	A	G	19: 11,281,419 (GRCm39)	F380L	probably benign	Het
Myof	T	C	19: 37,911,438 (GRCm39)	N1511D	probably benign	Het
Ncbp1	G	A	4: 46,161,290 (GRCm39)	S422N	probably damaging	Het
Pitpnm3	T	C	11: 72,003,158 (GRCm39)	I51V	probably benign	Het
Plcb3	T	C	19: 6,932,643 (GRCm39)	S1041G	probably benign	Het
Ppp5c	T	C	7: 16,761,629 (GRCm39)	D37G	probably benign	Het
Prkca	T	C	11: 107,948,641 (GRCm39)	D116G	possibly damaging	Het
Qrsl1	A	T	10: 43,757,516 (GRCm39)	D367E	probably benign	Het
Rbm26	T	C	14: 105,381,667 (GRCm39)	T493A	probably benign	Het
Saxo1	T	C	4: 86,363,826 (GRCm39)	E219G	probably damaging	Het
Slc22a16	A	T	10: 40,460,849 (GRCm39)		probably null	Het
Tmem30c	T	C	16: 57,096,506 (GRCm39)	N205S	possibly damaging	Het
Trp53i11	A	G	2: 93,029,723 (GRCm39)	N119S	possibly damaging	Het
Wnt3a	A	T	11: 59,181,409 (GRCm39)	I22N	probably benign	Het
Zfp998	A	G	13: 66,580,040 (GRCm39)	Y148H	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
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
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
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'- GGAGGTACTTCAGAGCATGTTAC -3'
(R):5'- ACTTTCCGTGGTCCTTGGAC -3'

Sequencing Primer
(F):5'- AGGTACTTCAGAGCATGTTACCATGG -3'
(R):5'- TGGAGTCTCCAGTCCACAG -3'

Posted On

2017-12-01