Mutagenetix > Incidental Mutation

Incidental Mutation 'R8325:Pcolce2'

644059

Institutional Source

Beutler Lab

Gene Symbol

Pcolce2

Ensembl Gene

ENSMUSG00000015354

Gene Name

procollagen C-endopeptidase enhancer 2

Synonyms

2400001O18Rik, Pcpe2

MMRRC Submission

067857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95519681-95577604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95574973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 308 (S308C)

Ref Sequence

ENSEMBL: ENSMUSP00000015498 (fasta)

Gene Model

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

AlphaFold

Q8R4W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000015498
AA Change: S308C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: S308C

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: 99.4%
20x: 98.2%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	T	C	15: 89,453,954 (GRCm39)	V97A	probably benign	Het
Agrn	C	T	4: 156,258,119 (GRCm39)	G1081D	probably benign	Het
Ang2	A	G	14: 51,432,960 (GRCm39)	S141P	probably damaging	Het
Ap3b2	T	C	7: 81,134,237 (GRCm39)		probably null	Het
Apba2	A	T	7: 64,345,730 (GRCm39)	T307S	probably benign	Het
Cadm2	T	A	16: 66,612,338 (GRCm39)	N84Y	possibly damaging	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Ccdc62	T	C	5: 124,092,448 (GRCm39)	C478R	probably benign	Het
Cep290	A	C	10: 100,353,670 (GRCm39)	H801P	probably benign	Het
Chfr	T	A	5: 110,310,629 (GRCm39)	Y555*	probably null	Het
Cmas	T	C	6: 142,717,065 (GRCm39)		probably null	Het
Cmtm7	T	C	9: 114,592,415 (GRCm39)	I61V	probably benign	Het
Cyb5d2	A	G	11: 72,669,651 (GRCm39)	S236P	possibly damaging	Het
Dcp1b	C	T	6: 119,192,397 (GRCm39)	Q438*	probably null	Het
Dgcr8	T	C	16: 18,076,149 (GRCm39)	Q678R	probably damaging	Het
Emc1	T	A	4: 139,092,521 (GRCm39)	M487K	possibly damaging	Het
Gm7361	T	C	5: 26,467,154 (GRCm39)	S258P	probably damaging	Het
Hbs1l	A	G	10: 21,183,548 (GRCm39)	I96M	probably benign	Het
Ifi27l2a	G	A	12: 103,409,144 (GRCm39)	A49V	unknown	Het
Igkv10-96	T	C	6: 68,609,088 (GRCm39)	Y69C	possibly damaging	Het
Igsf10	A	T	3: 59,225,954 (GRCm39)	V2573D	probably damaging	Het
Kcng3	T	C	17: 83,939,007 (GRCm39)	N14S	possibly damaging	Het
Kif20a	A	G	18: 34,759,975 (GRCm39)	T94A	possibly damaging	Het
Lcp2	T	A	11: 34,032,394 (GRCm39)	V324E	probably benign	Het
Lmod3	T	C	6: 97,224,379 (GRCm39)	K481E	probably benign	Het
Met	A	G	6: 17,571,671 (GRCm39)	E1330G	probably damaging	Het
Mroh1	GCCCAGGCCCC	GCC	15: 76,316,415 (GRCm39)		probably null	Het
Mss51	T	C	14: 20,534,771 (GRCm39)	D333G	possibly damaging	Het
Nav3	A	G	10: 109,541,464 (GRCm39)	V1933A	probably benign	Het
Nbas	A	G	12: 13,338,796 (GRCm39)	Y212C	probably damaging	Het
Nkapd1	T	C	9: 50,521,608 (GRCm39)	I104M	probably benign	Het
Npsr1	C	T	9: 24,198,118 (GRCm39)		probably benign	Het
Nt5e	A	G	9: 88,245,615 (GRCm39)	E295G	probably benign	Het
Or6b1	T	C	6: 42,815,124 (GRCm39)	F103S	probably damaging	Het
Or9m1b	A	T	2: 87,836,537 (GRCm39)	L186Q	probably damaging	Het
Papss1	A	G	3: 131,288,372 (GRCm39)	T136A	probably benign	Het
Pcdha1	A	T	18: 37,063,867 (GRCm39)	D177V	possibly damaging	Het
Pdhx	G	T	2: 102,872,597 (GRCm39)	P162T	probably benign	Het
Plin3	C	T	17: 56,593,268 (GRCm39)	R98Q	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf213	A	G	11: 119,321,271 (GRCm39)	N1243S		Het
Serpinb1b	A	T	13: 33,277,584 (GRCm39)	K272N	probably benign	Het
Sez6l	A	T	5: 112,575,982 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,096,257 (GRCm39)	M739K	probably benign	Het
Tbc1d9	G	A	8: 83,966,667 (GRCm39)		probably null	Het
Trp53inp1	A	G	4: 11,164,561 (GRCm39)	D35G	probably damaging	Het
Trpc7	A	G	13: 56,952,524 (GRCm39)	V549A	probably damaging	Het
Usp18	T	C	6: 121,230,769 (GRCm39)	L66S	probably damaging	Het
Vmn1r238	C	T	18: 3,122,529 (GRCm39)	S295N	probably benign	Het
Vmn2r29	T	C	7: 7,244,941 (GRCm39)	D311G	probably damaging	Het
Vmn2r91	C	A	17: 18,356,625 (GRCm39)	A764D	probably damaging	Het
Wdfy4	T	A	14: 32,689,444 (GRCm39)	I3031F		Het
Wdr7	A	G	18: 63,911,535 (GRCm39)		probably null	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
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'- TCACTGCAATGGTAAGCTTGG -3'
(R):5'- TTTTCTCACTGTGAAGCCAAAC -3'

Sequencing Primer
(F):5'- CAATGGTAAGCTTGGTGGCTC -3'
(R):5'- CAGTTCAAAGAGCCCAGGTG -3'

Posted On

2020-09-02