Mutagenetix > Incidental Mutation

Incidental Mutation 'R7991:Pcolce'

651726

Institutional Source

Beutler Lab

Gene Symbol

Pcolce

Ensembl Gene

ENSMUSG00000029718

Gene Name

procollagen C-endopeptidase enhancer protein

Synonyms

Astt-2, Astt2

MMRRC Submission

046032-MU

Accession Numbers

Essential gene?

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

Stock #

R7991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137603369-137609666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137607390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 75 (S75T)

Ref Sequence

ENSEMBL: ENSMUSP00000031731 (fasta)

Gene Model

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

AlphaFold

Q61398

Predicted Effect

probably benign
Transcript: ENSMUST00000031731
AA Change: S75T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: S75T

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: S75T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: S75T

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

probably benign
Transcript: ENSMUST00000136028

Predicted Effect

probably benign
Transcript: ENSMUST00000142675
AA Change: S57T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: S57T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197912
AA Change: S34T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718
AA Change: S34T

Domain	Start	End	E-Value	Type
CUB	1	107	2.2e-36	SMART
C345C	130	236	1.3e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,185,726 (GRCm39)	D1200G	probably damaging	Het
Adnp2	A	G	18: 80,172,537 (GRCm39)	L624P	probably damaging	Het
Akap9	A	G	5: 4,114,949 (GRCm39)		probably null	Het
Ap2a2	A	G	7: 141,189,760 (GRCm39)	Y249C	probably damaging	Het
Asxl2	A	T	12: 3,534,531 (GRCm39)	N243Y	probably damaging	Het
Btnl4	A	G	17: 34,693,257 (GRCm39)	S53P	probably damaging	Het
Caly	T	C	7: 139,651,513 (GRCm39)	D116G	possibly damaging	Het
Ccdc121rt2	G	A	5: 112,598,791 (GRCm39)	R446H	probably benign	Het
Ccdc168	T	A	1: 44,098,869 (GRCm39)	H743L	probably benign	Het
Ccdc81	G	A	7: 89,539,609 (GRCm39)	A209V	probably benign	Het
Cdc14a	A	G	3: 116,101,887 (GRCm39)	S347P	probably benign	Het
Cdh9	G	T	15: 16,828,489 (GRCm39)	A194S	probably damaging	Het
Clca3a2	A	G	3: 144,519,756 (GRCm39)	V206A	probably benign	Het
Clca4a	A	T	3: 144,658,500 (GRCm39)	V905E	possibly damaging	Het
Cluap1	A	G	16: 3,746,485 (GRCm39)	E282G	probably damaging	Het
Cmtm2b	T	A	8: 105,056,419 (GRCm39)	C109*	probably null	Het
Crtac1	T	C	19: 42,322,399 (GRCm39)	N114D	probably benign	Het
Dennd1b	T	C	1: 139,013,634 (GRCm39)	Y168H		Het
Dock6	T	C	9: 21,757,858 (GRCm39)	D82G	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Erfl	G	A	7: 24,627,975 (GRCm39)	P185S	possibly damaging	Het
Fh1	T	C	1: 175,437,337 (GRCm39)	Y254C	probably damaging	Het
H2-Q1	T	A	17: 35,540,356 (GRCm39)	L147Q	probably damaging	Het
H3c8	T	A	13: 23,719,887 (GRCm39)	M91K	probably benign	Het
Hnrnpu	A	T	1: 178,159,871 (GRCm39)	D403E	unknown	Het
Il34	T	C	8: 111,476,122 (GRCm39)	K33E	probably benign	Het
Klhl20	A	G	1: 160,934,434 (GRCm39)	V195A	possibly damaging	Het
Lair1	G	T	7: 4,031,969 (GRCm39)	T46N	probably damaging	Het
Lama4	A	G	10: 38,921,805 (GRCm39)	E442G	possibly damaging	Het
Lifr	A	T	15: 7,202,963 (GRCm39)	I400F	possibly damaging	Het
Man2a1	T	C	17: 64,908,771 (GRCm39)	I14T	probably benign	Het
Or13p10	T	A	4: 118,523,489 (GRCm39)	C258*	probably null	Het
Or1ad8	T	G	11: 50,898,071 (GRCm39)	S91A	possibly damaging	Het
Or4z4	A	C	19: 12,076,190 (GRCm39)	V271G	possibly damaging	Het
Or51h7	A	G	7: 102,591,760 (GRCm39)	L8P	probably benign	Het
Or5an10	T	A	19: 12,275,639 (GRCm39)	I286F	probably damaging	Het
Or8s10	T	C	15: 98,335,419 (GRCm39)	I23T	probably benign	Het
Papss2	G	T	19: 32,629,403 (GRCm39)	V331F	possibly damaging	Het
Pcdha11	T	C	18: 37,145,909 (GRCm39)	S667P	probably damaging	Het
Phf20l1	A	C	15: 66,502,768 (GRCm39)	D716A	possibly damaging	Het
Pkd1	A	G	17: 24,791,595 (GRCm39)	E1094G	possibly damaging	Het
Ppm1h	A	G	10: 122,618,152 (GRCm39)	K104E	probably benign	Het
Ppp6r3	T	C	19: 3,509,750 (GRCm39)	Y195C	probably benign	Het
Pramel6	T	A	2: 87,340,031 (GRCm39)	L265Q	probably benign	Het
Prc1	A	T	7: 79,961,969 (GRCm39)	N489I	possibly damaging	Het
Prss59	A	C	6: 40,905,444 (GRCm39)		probably null	Het
Psg22	A	C	7: 18,460,861 (GRCm39)	N497H	probably damaging	Het
Pum3	T	A	19: 27,389,620 (GRCm39)	I411F	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	A	T	10: 39,739,734 (GRCm39)	I2861L	possibly damaging	Het
Rsf1	A	C	7: 97,310,540 (GRCm39)	K423N		Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Septin3	A	G	15: 82,170,654 (GRCm39)	E216G	probably benign	Het
Sppl2c	T	C	11: 104,078,640 (GRCm39)	V480A	possibly damaging	Het
Sppl2c	A	G	11: 104,078,189 (GRCm39)	T330A	probably benign	Het
Srebf2	A	G	15: 82,088,253 (GRCm39)	D1073G	probably damaging	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tbc1d4	T	A	14: 101,845,715 (GRCm39)	E61V	probably damaging	Het
Tnc	T	A	4: 63,926,983 (GRCm39)	T848S	probably benign	Het
Trmt5	A	G	12: 73,329,439 (GRCm39)	Y240H	probably damaging	Het
Trpv1	T	C	11: 73,132,583 (GRCm39)	V399A	possibly damaging	Het
Tstd2	T	C	4: 46,133,646 (GRCm39)	T59A	unknown	Het
Ubash3a	T	A	17: 31,456,869 (GRCm39)	L510M	probably benign	Het
Ubr3	T	A	2: 69,783,200 (GRCm39)	I713N	probably damaging	Het
Upf3a	A	G	8: 13,842,166 (GRCm39)	E194G	probably damaging	Het
Usp22	A	T	11: 61,065,588 (GRCm39)	Y42N	probably benign	Het
Vav3	T	A	3: 109,470,478 (GRCm39)	C555S	probably damaging	Het
Vmn1r210	T	A	13: 23,011,684 (GRCm39)	M201L	probably benign	Het
Wdr64	C	A	1: 175,554,051 (GRCm39)	Q194K	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
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
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'- ATACTCACCAGTGCCCGAAG -3'
(R):5'- TGAGACTCCATCCTTAATTCGC -3'

Sequencing Primer
(F):5'- CCGCTGTACCAGAGCAGGAAG -3'
(R):5'- GTTTTCTCCCTCCAGAGACCACAAG -3'

Posted On

2020-09-15