Mutagenetix > Incidental Mutation

Incidental Mutation 'R7703:Pcolce'

594115

Institutional Source

Beutler Lab

Gene Symbol

Pcolce

Ensembl Gene

ENSMUSG00000029718

Gene Name

procollagen C-endopeptidase enhancer protein

Synonyms

Astt-2, Astt2

MMRRC Submission

045764-MU

Accession Numbers

Essential gene?

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

Stock #

R7703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137603369-137609666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137603474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 453 (N453S)

Ref Sequence

ENSEMBL: ENSMUSP00000031731 (fasta)

Gene Model

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

AlphaFold

Q61398

Predicted Effect

probably benign
Transcript: ENSMUST00000031731
AA Change: N453S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: N453S

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
AA Change: N478S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: N478S

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

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: 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: 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

unknown
Transcript: ENSMUST00000197912
AA Change: N231S

SMART Domains

Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718
AA Change: N231S

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,316,593 (GRCm39)	I191T	probably damaging	Het
2310003L06Rik	T	C	5: 88,120,671 (GRCm39)	L476P	possibly damaging	Het
Aasdh	T	C	5: 77,035,924 (GRCm39)	D387G	probably damaging	Het
Ahsa2	T	A	11: 23,440,415 (GRCm39)	T327S	probably benign	Het
Ap3d1	A	T	10: 80,553,678 (GRCm39)	V523E	probably damaging	Het
Baz2b	C	A	2: 59,747,769 (GRCm39)	R1298L	probably damaging	Het
Cacna2d3	T	C	14: 28,765,503 (GRCm39)	T802A	possibly damaging	Het
Cdh23	G	T	10: 60,173,043 (GRCm39)	T1714K	probably damaging	Het
Chrna3	A	T	9: 54,923,408 (GRCm39)	D133E	probably benign	Het
Cnot1	C	T	8: 96,486,726 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,990,295 (GRCm39)	N1396Y	unknown	Het
Cox11	A	G	11: 90,529,245 (GRCm39)	N77S	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cytip	A	G	2: 58,037,920 (GRCm39)	V148A	probably damaging	Het
Diaph1	T	C	18: 38,023,862 (GRCm39)	I659V	unknown	Het
Dmxl2	A	T	9: 54,368,370 (GRCm39)	M26K	probably benign	Het
Erp44	T	A	4: 48,196,904 (GRCm39)	I340F	probably benign	Het
Fam186a	A	G	15: 99,852,678 (GRCm39)	M180T	unknown	Het
Frem2	C	T	3: 53,429,589 (GRCm39)	V2793I	probably benign	Het
Gm19410	A	G	8: 36,266,539 (GRCm39)	E1064G	probably damaging	Het
Gria4	T	C	9: 4,503,588 (GRCm39)	I343V	probably benign	Het
Grsf1	T	A	5: 88,819,150 (GRCm39)	N228Y	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Ighv1-18	A	T	12: 114,646,381 (GRCm39)	N74K	probably benign	Het
Kcnh6	A	T	11: 105,914,703 (GRCm39)	T703S	probably benign	Het
Lrp1b	T	A	2: 41,000,798 (GRCm39)	D2256V		Het
Lrrc63	T	C	14: 75,360,447 (GRCm39)	T352A	possibly damaging	Het
Lztfl1	T	C	9: 123,531,194 (GRCm39)	E258G	probably damaging	Het
Mcph1	T	C	8: 18,721,122 (GRCm39)	I650T	possibly damaging	Het
Mep1a	T	C	17: 43,788,997 (GRCm39)	D606G	possibly damaging	Het
Muc16	T	C	9: 18,516,578 (GRCm39)	I313M		Het
Myh7b	A	G	2: 155,462,356 (GRCm39)	Y353C	probably null	Het
Nfatc1	A	G	18: 80,725,504 (GRCm39)	L420P	probably damaging	Het
Olfml1	A	G	7: 107,170,392 (GRCm39)	E93G	probably damaging	Het
Or6b1	A	T	6: 42,814,938 (GRCm39)	E41V	probably damaging	Het
Or8c11	A	G	9: 38,289,357 (GRCm39)	H54R	probably benign	Het
Pax1	A	T	2: 147,208,034 (GRCm39)	N214I	probably damaging	Het
Pcdhb17	C	A	18: 37,619,801 (GRCm39)	H530Q	probably benign	Het
Pcdhgb7	A	T	18: 37,885,321 (GRCm39)	M164L	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Ptprq	C	T	10: 107,480,007 (GRCm39)	V1088I	probably benign	Het
Rab5a	T	A	17: 53,807,485 (GRCm39)	F174I	probably damaging	Het
Rapgef4	A	G	2: 72,010,315 (GRCm39)	D291G	probably benign	Het
Rbm25	A	T	12: 83,721,864 (GRCm39)	K683N	possibly damaging	Het
Rbpj	T	C	5: 53,803,240 (GRCm39)	I156T	probably damaging	Het
Rgsl1	A	G	1: 153,669,610 (GRCm39)	S259P	possibly damaging	Het
Ring1	T	C	17: 34,242,109 (GRCm39)	D100G	probably damaging	Het
Ryr3	A	T	2: 112,690,110 (GRCm39)	D1166E	probably damaging	Het
Sacs	A	G	14: 61,443,539 (GRCm39)	K1862E	possibly damaging	Het
Scamp5	A	G	9: 57,354,465 (GRCm39)	I63T	possibly damaging	Het
Septin14	C	T	5: 129,763,092 (GRCm39)	A334T	possibly damaging	Het
Sh3rf2	A	T	18: 42,289,201 (GRCm39)	Q706L	probably benign	Het
Skap2	A	T	6: 51,884,934 (GRCm39)	H242Q	probably benign	Het
Spmap2l	T	C	5: 77,164,444 (GRCm39)	I149T	probably benign	Het
Tfpt	A	G	7: 3,623,744 (GRCm39)		probably null	Het
Thg1l	T	G	11: 45,846,120 (GRCm39)	D58A	probably damaging	Het
Thyn1	A	G	9: 26,918,143 (GRCm39)	E177G	probably benign	Het
Tmem151b	C	T	17: 45,856,724 (GRCm39)	A239T	probably damaging	Het
Ttc21a	T	C	9: 119,788,095 (GRCm39)	V840A	probably benign	Het
Usp32	A	T	11: 84,968,153 (GRCm39)	V170E	probably damaging	Het
Vmn2r29	A	G	7: 7,234,864 (GRCm39)	V674A	probably benign	Het
Vwa8	A	G	14: 79,263,513 (GRCm39)	N781S	probably damaging	Het
Zbtb7c	C	A	18: 76,270,433 (GRCm39)	Q174K	probably benign	Het
Zeb1	T	C	18: 5,766,917 (GRCm39)	I476T	probably benign	Het
Zfp91	A	T	19: 12,754,241 (GRCm39)	D282E	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
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'- ACTCTGAAATCCAAGATGTGCC -3'
(R):5'- GAAGTTGTATGTGCCCTGCAG -3'

Sequencing Primer
(F):5'- TCCAAGATGTGCCTCCCAC -3'
(R):5'- GTCTGACCAAGAAGATGCTTTGAC -3'

Posted On

2019-11-12