Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Pcolce'

22908

Institutional Source

Beutler Lab

Gene Symbol

Pcolce

Ensembl Gene

ENSMUSG00000029718

Gene Name

procollagen C-endopeptidase enhancer protein

Synonyms

Astt-2, Astt2

MMRRC Submission

038437-MU

Accession Numbers

Essential gene?

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

Stock #

R0157 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

137603369-137609666 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 137608741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142608 (fasta)

Gene Model

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

AlphaFold

Q61398

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031731
AA Change: V40E

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: V40E

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

possibly damaging
Transcript: ENSMUST00000054564
AA Change: V40E

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: V40E

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

possibly damaging
Transcript: ENSMUST00000142675
AA Change: V22E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: V22E

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

noncoding transcript
Transcript: ENSMUST00000196660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136649

Predicted Effect

probably null
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 null
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: ENSMUST00000136028

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

Meta Mutation Damage Score

0.6299

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,056,527 (GRCm39)	I180N	probably damaging	Het
Alk	T	A	17: 72,256,840 (GRCm39)	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,539 (GRCm39)	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,288,392 (GRCm39)	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,845,475 (GRCm39)	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,835,812 (GRCm39)	I39V	probably damaging	Het
Asap2	T	A	12: 21,256,326 (GRCm39)	I208N	probably damaging	Het
Atad5	T	C	11: 79,980,643 (GRCm39)	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,835,809 (GRCm39)	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,617,211 (GRCm39)		probably benign	Het
BC028528	A	G	3: 95,792,280 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,745,886 (GRCm39)	L74Q	probably benign	Het
Bptf	T	C	11: 106,965,484 (GRCm39)	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,289,385 (GRCm39)	D806E	probably benign	Het
Cdhr3	T	C	12: 33,111,649 (GRCm39)	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,140,602 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,384,556 (GRCm39)	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759 (GRCm39)	I1171N	probably damaging	Het
Chd9	T	C	8: 91,735,464 (GRCm39)		probably null	Het
Ckmt1	A	G	2: 121,193,522 (GRCm39)	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,244,095 (GRCm39)	R68L	probably benign	Het
Csmd2	G	T	4: 128,415,704 (GRCm39)	V2678F	probably benign	Het
Cul7	T	A	17: 46,964,761 (GRCm39)	V131E	possibly damaging	Het
Dab2	T	C	15: 6,459,308 (GRCm39)	S407P	probably benign	Het
Dnah17	C	T	11: 118,017,997 (GRCm39)	G166D	probably benign	Het
F13b	G	A	1: 139,431,585 (GRCm39)	V52I	probably benign	Het
Gjd4	T	C	18: 9,280,549 (GRCm39)	I176M	probably benign	Het
Hoxc11	A	G	15: 102,863,436 (GRCm39)	Y159C	probably damaging	Het
Hydin	T	C	8: 111,026,642 (GRCm39)	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,355,132 (GRCm39)	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,200,430 (GRCm39)	C71R	unknown	Het
Lamc1	T	C	1: 153,138,353 (GRCm39)	D167G	probably benign	Het
Lin7c	C	A	2: 109,725,514 (GRCm39)	A73E	probably damaging	Het
Meiosin	T	C	7: 18,840,945 (GRCm39)	H63R	possibly damaging	Het
Mms22l	C	A	4: 24,588,224 (GRCm39)	A952E	probably damaging	Het
Myh3	A	G	11: 66,973,735 (GRCm39)	N136S	probably benign	Het
Ndufb10	T	C	17: 24,943,218 (GRCm39)	T31A	probably benign	Het
Nlrp2	T	C	7: 5,311,769 (GRCm39)	Y37C	possibly damaging	Het
Or2t44	T	C	11: 58,677,885 (GRCm39)	F275S	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Orc3	C	A	4: 34,607,130 (GRCm39)		probably null	Het
Pard3b	A	C	1: 62,250,792 (GRCm39)	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,334,136 (GRCm39)	D150G	probably damaging	Het
Pdcl	A	C	2: 37,242,189 (GRCm39)	I187S	probably damaging	Het
Pkn1	T	C	8: 84,419,449 (GRCm39)	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,000,662 (GRCm39)	T692S	probably benign	Het
Plcb2	C	A	2: 118,549,022 (GRCm39)	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,947,950 (GRCm39)	I218F	probably damaging	Het
Pms1	A	T	1: 53,234,196 (GRCm39)	Y773*	probably null	Het
Polr2e	C	T	10: 79,872,615 (GRCm39)	G184R	probably damaging	Het
Polr3a	T	C	14: 24,529,254 (GRCm39)	I369V	probably damaging	Het
Pramel21	C	T	4: 143,342,366 (GRCm39)	P158S	probably damaging	Het
Prpf4b	T	C	13: 35,068,014 (GRCm39)		probably benign	Het
Pzp	G	A	6: 128,500,939 (GRCm39)	Q140*	probably null	Het
Qrich2	T	A	11: 116,332,221 (GRCm39)	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,307,858 (GRCm39)	L373R	probably damaging	Het
Sema3d	A	T	5: 12,558,104 (GRCm39)	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,850,565 (GRCm39)	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,140,106 (GRCm39)	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sox21	G	A	14: 118,473,354 (GRCm39)		probably benign	Het
Steap3	A	G	1: 120,155,379 (GRCm39)	*527R	probably null	Het
Svep1	T	C	4: 58,069,830 (GRCm39)	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,817,389 (GRCm39)	F310I	probably damaging	Het
Tasor2	C	A	13: 3,625,550 (GRCm39)	V1467L	probably benign	Het
Tecta	A	G	9: 42,286,307 (GRCm39)	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,401,822 (GRCm39)	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,332,190 (GRCm39)	M276L	probably benign	Het
Yeats2	A	C	16: 20,040,427 (GRCm39)	*142C	probably null	Het
Zfp26	G	T	9: 20,349,166 (GRCm39)	T466K	probably benign	Het
Zfp426	T	C	9: 20,382,432 (GRCm39)	N171S	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGGGTTTCCCAGAGGTGATGC -3'
(R):5'- ATCTGGAAGTAGTTAGGCGGCTCC -3'

Sequencing Primer
(F):5'- CCAGAGGTGATGCCTGGTG -3'
(R):5'- AATTCCTGGCAGCGTGG -3'

Posted On

2013-04-16