Mutagenetix > Incidental Mutation

Incidental Mutation 'R7066:Pcolce2'

548578

Institutional Source

Beutler Lab

Gene Symbol

Pcolce2

Ensembl Gene

ENSMUSG00000015354

Gene Name

procollagen C-endopeptidase enhancer 2

Synonyms

2400001O18Rik, Pcpe2

MMRRC Submission

045162-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95519681-95577604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95563674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 220 (V220A)

Ref Sequence

ENSEMBL: ENSMUSP00000015498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015498]

AlphaFold

Q8R4W6

Predicted Effect

probably benign
Transcript: ENSMUST00000015498
AA Change: V220A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: V220A

Domain	Start	End	E-Value	Type
CUB	32	143	1.49e-41	SMART
CUB	153	267	2e-42	SMART
low complexity region	268	293	N/A	INTRINSIC
C345C	307	412	4.1e-23	SMART

Meta Mutation Damage Score

0.0743

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable abnormalities in thymus or T cell development. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted(4) Gene trapped(4)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,904,514 (GRCm39)	V175A	probably damaging	Het
Adamts5	A	T	16: 85,659,652 (GRCm39)	V880E	probably damaging	Het
Adgrf1	T	A	17: 43,621,151 (GRCm39)	F463I	probably benign	Het
Ano1	T	A	7: 144,190,823 (GRCm39)	E249D	probably benign	Het
Aoc1	A	G	6: 48,885,553 (GRCm39)	D686G	probably damaging	Het
Cacna1d	A	T	14: 30,074,935 (GRCm39)		probably benign	Het
Cdc42ep4	A	G	11: 113,620,044 (GRCm39)	S116P	probably damaging	Het
Ces2a	T	C	8: 105,466,880 (GRCm39)	V463A	probably damaging	Het
Depdc5	A	G	5: 33,059,192 (GRCm39)	D297G	probably benign	Het
Fsip2	T	A	2: 82,821,235 (GRCm39)	V5656E	possibly damaging	Het
Gbp5	A	G	3: 142,213,490 (GRCm39)	T469A	probably benign	Het
Gm21663	C	G	5: 26,146,259 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,027 (GRCm39)	V456A	probably benign	Het
Lpcat1	A	C	13: 73,659,500 (GRCm39)	I373L	probably benign	Het
Morc2b	C	T	17: 33,355,610 (GRCm39)	V721I	probably benign	Het
Mrgprb1	C	T	7: 48,097,424 (GRCm39)	V163M	probably benign	Het
Mtfr2	A	G	10: 20,229,972 (GRCm39)	I142V	possibly damaging	Het
Muc16	A	T	9: 18,569,317 (GRCm39)	S1067R	unknown	Het
Myh14	T	C	7: 44,280,179 (GRCm39)	S892G	possibly damaging	Het
Mylk2	C	T	2: 152,753,588 (GRCm39)		probably null	Het
Mzf1	A	T	7: 12,777,490 (GRCm39)	V638E	possibly damaging	Het
Ncoa1	C	T	12: 4,372,934 (GRCm39)	V156I	possibly damaging	Het
Nf1	A	G	11: 79,447,546 (GRCm39)	E2450G	probably damaging	Het
Or14j3	T	A	17: 37,901,034 (GRCm39)	D70V	probably damaging	Het
Or1e29	A	G	11: 73,668,018 (GRCm39)	I45T	probably damaging	Het
Or4a72	T	C	2: 89,406,047 (GRCm39)	T8A	probably damaging	Het
Or4f60	G	A	2: 111,902,541 (GRCm39)	P129L	probably damaging	Het
Or5t7	T	A	2: 86,507,570 (GRCm39)	T36S	possibly damaging	Het
Or6c88	T	C	10: 129,407,373 (GRCm39)	L283S	probably damaging	Het
Or8g54	A	G	9: 39,707,420 (GRCm39)	I250V	probably benign	Het
Or8k17	T	C	2: 86,067,002 (GRCm39)	D52G	probably damaging	Het
P4htm	T	G	9: 108,474,162 (GRCm39)	K125N	probably damaging	Het
Patj	A	G	4: 98,301,434 (GRCm39)	T240A	probably benign	Het
Pcyox1	A	T	6: 86,371,478 (GRCm39)	I136N	probably damaging	Het
Pde4b	A	G	4: 102,460,003 (GRCm39)	S395G	probably benign	Het
Peg3	C	A	7: 6,711,856 (GRCm39)	R1122L	probably damaging	Het
Plekhm1	A	G	11: 103,261,814 (GRCm39)	V922A	possibly damaging	Het
Rad51c	T	C	11: 87,293,502 (GRCm39)	N118S	possibly damaging	Het
Rb1cc1	T	A	1: 6,320,229 (GRCm39)	V1216D	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rlf	T	C	4: 121,005,984 (GRCm39)	M999V	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Sema5b	A	C	16: 35,471,682 (GRCm39)	D425A	probably benign	Het
Siglecg	A	G	7: 43,061,166 (GRCm39)	E413G	probably benign	Het
Tcaf1	A	T	6: 42,656,111 (GRCm39)	N288K	probably damaging	Het
Tdp1	A	G	12: 99,860,991 (GRCm39)	D210G	probably benign	Het
Umps	A	T	16: 33,782,103 (GRCm39)	L273*	probably null	Het
Vcan	A	T	13: 89,853,805 (GRCm39)	V385D	probably damaging	Het
Wdr59	T	C	8: 112,192,477 (GRCm39)	T676A	probably benign	Het
Zdbf2	A	G	1: 63,346,718 (GRCm39)	H1699R	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Pcolce2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Pcolce2	APN	9	95,574,976 (GRCm39)	missense	probably damaging	0.98
IGL03339:Pcolce2	APN	9	95,560,393 (GRCm39)	splice site	probably benign
R0019:Pcolce2	UTSW	9	95,577,017 (GRCm39)	critical splice acceptor site	probably null
R0019:Pcolce2	UTSW	9	95,577,017 (GRCm39)	critical splice acceptor site	probably null
R0570:Pcolce2	UTSW	9	95,520,710 (GRCm39)	missense	probably benign	0.00
R0962:Pcolce2	UTSW	9	95,552,087 (GRCm39)	missense	probably benign	0.04
R0989:Pcolce2	UTSW	9	95,520,776 (GRCm39)	missense	probably benign	0.00
R1171:Pcolce2	UTSW	9	95,576,793 (GRCm39)	missense	probably benign	0.01
R1840:Pcolce2	UTSW	9	95,552,256 (GRCm39)	missense	probably benign	0.16
R1840:Pcolce2	UTSW	9	95,552,170 (GRCm39)	missense	probably damaging	0.98
R1997:Pcolce2	UTSW	9	95,576,793 (GRCm39)	missense	probably benign	0.01
R2061:Pcolce2	UTSW	9	95,552,229 (GRCm39)	missense	probably benign	0.04
R2196:Pcolce2	UTSW	9	95,576,742 (GRCm39)	missense	probably damaging	0.98
R2287:Pcolce2	UTSW	9	95,560,458 (GRCm39)	nonsense	probably null
R2922:Pcolce2	UTSW	9	95,576,767 (GRCm39)	missense	probably damaging	1.00
R4049:Pcolce2	UTSW	9	95,520,808 (GRCm39)	missense	probably damaging	1.00
R4432:Pcolce2	UTSW	9	95,563,610 (GRCm39)	missense	probably damaging	0.99
R4639:Pcolce2	UTSW	9	95,519,930 (GRCm39)	splice site	probably null
R6288:Pcolce2	UTSW	9	95,563,646 (GRCm39)	missense	probably damaging	0.96
R6625:Pcolce2	UTSW	9	95,560,492 (GRCm39)	nonsense	probably null
R6883:Pcolce2	UTSW	9	95,560,396 (GRCm39)	critical splice acceptor site	probably null
R7023:Pcolce2	UTSW	9	95,560,521 (GRCm39)	missense	probably benign	0.19
R7949:Pcolce2	UTSW	9	95,576,688 (GRCm39)	missense	probably benign	0.11
R8325:Pcolce2	UTSW	9	95,574,973 (GRCm39)	missense	probably damaging	1.00
R8369:Pcolce2	UTSW	9	95,519,847 (GRCm39)	start codon destroyed	probably benign
R8510:Pcolce2	UTSW	9	95,563,700 (GRCm39)	missense	probably damaging	0.98
R8844:Pcolce2	UTSW	9	95,563,625 (GRCm39)	missense	possibly damaging	0.58
R9234:Pcolce2	UTSW	9	95,560,439 (GRCm39)	missense	probably benign	0.05
R9485:Pcolce2	UTSW	9	95,520,720 (GRCm39)	nonsense	probably null
R9775:Pcolce2	UTSW	9	95,520,797 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcolce2	UTSW	9	95,519,889 (GRCm39)	missense	possibly damaging	0.83
Z1177:Pcolce2	UTSW	9	95,560,478 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCGTGTGTTCAGAATCCTCC -3'
(R):5'- TAGGGAATTTAGCAGGACTTAGG -3'

Sequencing Primer
(F):5'- ACACGTGTGAATCTGAGCTC -3'
(R):5'- CTTCATGAGATCCAGCTGTAAGGC -3'

Posted On

2019-05-13