Mutagenetix > Incidental Mutation

Incidental Mutation 'R9485:Pcolce2'

716531

Institutional Source

Beutler Lab

Gene Symbol

Pcolce2

Ensembl Gene

ENSMUSG00000015354

Gene Name

procollagen C-endopeptidase enhancer 2

Synonyms

2400001O18Rik, Pcpe2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95519681-95577604 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 95520720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 32 (C32*)

Ref Sequence

ENSEMBL: ENSMUSP00000015498 (fasta)

Gene Model

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

AlphaFold

Q8R4W6

Predicted Effect

probably null
Transcript: ENSMUST00000015498
AA Change: C32*

SMART Domains

Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: C32*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,400 (GRCm39)	D855G	possibly damaging	Het
4930486L24Rik	A	T	13: 61,001,059 (GRCm39)	V159D	possibly damaging	Het
Ahnak	G	A	19: 8,979,438 (GRCm39)	A241T	probably benign	Het
Apoa4	T	C	9: 46,152,453 (GRCm39)	M1T	probably null	Het
Atn1	T	C	6: 124,722,748 (GRCm39)	K776E	unknown	Het
Atp1a2	A	G	1: 172,105,822 (GRCm39)	*948R	probably null	Het
Atp7b	T	C	8: 22,502,778 (GRCm39)	Q801R	probably damaging	Het
Birc6	T	A	17: 74,945,398 (GRCm39)	S2824T	probably damaging	Het
Cacng3	A	T	7: 122,361,435 (GRCm39)	I109F	probably damaging	Het
Cass4	T	C	2: 172,269,805 (GRCm39)	F629S	probably benign	Het
Ccdc168	T	G	1: 44,095,399 (GRCm39)	K1900Q	possibly damaging	Het
Cnot6l	T	C	5: 96,230,858 (GRCm39)	T370A	probably damaging	Het
Cntnap5c	A	C	17: 58,409,103 (GRCm39)	D447A	probably damaging	Het
Col11a2	T	A	17: 34,258,669 (GRCm39)	L14Q	unknown	Het
Dennd4a	T	G	9: 64,814,388 (GRCm39)	Y1505*	probably null	Het
Dhx32	T	C	7: 133,327,110 (GRCm39)	M464V	possibly damaging	Het
Dip2b	T	C	15: 100,052,924 (GRCm39)	V266A	probably benign	Het
Dnajb6	C	T	5: 29,986,517 (GRCm39)	Q220*	probably null	Het
Dnmt3a	G	A	12: 3,916,121 (GRCm39)	S102N	probably benign	Het
Dph5	A	T	3: 115,681,977 (GRCm39)		probably benign	Het
Ear6	T	A	14: 52,091,489 (GRCm39)	L12H		Het
Erp27	T	C	6: 136,886,548 (GRCm39)	T162A	possibly damaging	Het
Fance	T	A	17: 28,536,479 (GRCm39)	L13H	probably damaging	Het
Fanci	T	A	7: 79,089,405 (GRCm39)	V947D	probably benign	Het
Gab1	G	A	8: 81,515,484 (GRCm39)	T278M	probably damaging	Het
Gbp4	A	T	5: 105,269,796 (GRCm39)	M344K	probably damaging	Het
Gpr87	C	T	3: 59,087,005 (GRCm39)	V167M	possibly damaging	Het
Gramd1a	T	G	7: 30,829,963 (GRCm39)	D708A	unknown	Het
Gzmd	T	A	14: 56,368,160 (GRCm39)	I100F	probably benign	Het
Hcrtr1	T	A	4: 130,031,054 (GRCm39)	M77L	possibly damaging	Het
Hipk2	C	A	6: 38,680,445 (GRCm39)	R965L	possibly damaging	Het
Ift88	T	C	14: 57,675,724 (GRCm39)	M79T	probably benign	Het
Ighv1-12	T	C	12: 114,579,525 (GRCm39)	Y99C	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il22b	A	G	10: 118,130,314 (GRCm39)	V63A	probably benign	Het
Mllt1	C	T	17: 57,207,184 (GRCm39)	R220H	probably damaging	Het
Mroh8	T	C	2: 157,071,913 (GRCm39)	T531A	probably benign	Het
Myh6	T	C	14: 55,181,802 (GRCm39)	K1833R	probably benign	Het
Nfkbie	C	T	17: 45,871,353 (GRCm39)	T270I	probably damaging	Het
Or4c110	G	A	2: 88,831,709 (GRCm39)	P308S	unknown	Het
Or52b3	A	T	7: 102,204,013 (GRCm39)	N174I	probably damaging	Het
Or52e5	C	T	7: 104,718,703 (GRCm39)	H10Y	possibly damaging	Het
Pcdh8	A	T	14: 80,005,689 (GRCm39)	F900I	probably damaging	Het
Pus7	A	T	5: 23,973,859 (GRCm39)	S212T	probably benign	Het
Rgs12	G	T	5: 35,189,614 (GRCm39)	W1322L	probably damaging	Het
Sec1	G	A	7: 45,328,033 (GRCm39)	T338I	probably damaging	Het
Slc25a36	T	C	9: 96,962,522 (GRCm39)	K156E	probably benign	Het
Snrpn	C	T	7: 59,637,212 (GRCm39)	D35N	probably damaging	Het
Sox9	A	G	11: 112,673,705 (GRCm39)	S99G	probably benign	Het
Spmip3	T	C	1: 177,580,545 (GRCm39)	V130A	possibly damaging	Het
Tacc3	T	C	5: 33,821,644 (GRCm39)	S135P	possibly damaging	Het
Taf2	T	C	15: 54,911,667 (GRCm39)	E583G	probably benign	Het
Tmprss7	T	A	16: 45,498,282 (GRCm39)	K366*	probably null	Het
Trpm6	G	T	19: 18,755,978 (GRCm39)	V74L	probably benign	Het
Ttbk2	G	T	2: 120,575,986 (GRCm39)	T997N	probably benign	Het
Utp25	C	A	1: 192,812,541 (GRCm39)		probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Vps50	T	C	6: 3,592,557 (GRCm39)	V730A	probably damaging	Het
Wdr47	A	T	3: 108,544,371 (GRCm39)	I665F	probably damaging	Het
Wnt7a	T	A	6: 91,343,297 (GRCm39)	N195I	probably benign	Het
Zfp131	A	G	13: 120,251,885 (GRCm39)		probably benign	Het
Zfp709	T	A	8: 72,643,669 (GRCm39)	V366E	possibly damaging	Het
Zfp985	T	A	4: 147,668,280 (GRCm39)	C383S	probably damaging	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
R7066:Pcolce2	UTSW	9	95,563,674 (GRCm39)	missense	probably benign
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
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'- AGCTGCACGTATATGGTCTG -3'
(R):5'- AGACGCAAATGGCATCCGTG -3'

Sequencing Primer
(F):5'- CTGCACGTATATGGTCTGTCTTAATG -3'
(R):5'- CAAATGGCATCCGTGTGTAC -3'

Posted On

2022-07-18