Mutagenetix > Incidental Mutation

Incidental Mutation 'R9775:Pcolce2'

733644

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 #

R9775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95519681-95577604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95520797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 58 (C58Y)

Ref Sequence

ENSEMBL: ENSMUSP00000015498 (fasta)

Gene Model

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

AlphaFold

Q8R4W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000015498
AA Change: C58Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: C58Y

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,861,765 (GRCm39)	Q35P	unknown	Het
Angptl2	G	A	2: 33,118,230 (GRCm39)	M1I	probably null	Het
Bptf	T	C	11: 106,934,502 (GRCm39)	E223G	probably benign	Het
C2cd3	T	A	7: 100,076,458 (GRCm39)	I805N		Het
Cep152	G	A	2: 125,423,660 (GRCm39)	Q914*	probably null	Het
Clasp2	A	G	9: 113,725,740 (GRCm39)	T794A	probably benign	Het
Cntnap2	A	G	6: 47,026,261 (GRCm39)	Y970C	probably damaging	Het
Ddx11	G	T	17: 66,445,157 (GRCm39)	V360L	probably damaging	Het
Fer1l6	G	A	15: 58,497,098 (GRCm39)	V1223I	probably benign	Het
Fez2	A	T	17: 78,708,183 (GRCm39)	I255N	probably damaging	Het
Gata3	A	G	2: 9,863,197 (GRCm39)	V439A	possibly damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnj9	T	A	1: 172,153,741 (GRCm39)	I128F	probably damaging	Het
Klhdc2	A	G	12: 69,350,393 (GRCm39)	D146G	probably damaging	Het
Klra6	T	A	6: 129,999,639 (GRCm39)	R110W	probably damaging	Het
Ldha	A	T	7: 46,491,047 (GRCm39)		probably benign	Het
Lingo2	C	A	4: 35,708,781 (GRCm39)	A400S	probably benign	Het
Lrrd1	A	T	5: 3,899,897 (GRCm39)	R67S	probably benign	Het
Mapk6	C	T	9: 75,295,668 (GRCm39)	C610Y	possibly damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Myoz2	T	C	3: 122,807,399 (GRCm39)	E137G	probably damaging	Het
Nemp2	T	A	1: 52,680,064 (GRCm39)	I96N	probably damaging	Het
Npy1r	A	G	8: 67,157,742 (GRCm39)	M351V	possibly damaging	Het
Nsg2	G	A	11: 32,005,029 (GRCm39)	S77N	possibly damaging	Het
Or10ag53	A	G	2: 87,082,568 (GRCm39)	M96V	probably damaging	Het
Or5ac17	T	A	16: 59,036,069 (GRCm39)	R302S	possibly damaging	Het
Or6c5c	T	C	10: 129,298,677 (GRCm39)	I44T	probably benign	Het
Osbpl9	G	A	4: 109,013,747 (GRCm39)		probably benign	Het
Piezo1	A	G	8: 123,208,927 (GRCm39)	F2480L	probably damaging	Het
Pip5k1c	T	A	10: 81,147,853 (GRCm39)	D419E	probably damaging	Het
Plppr1	A	T	4: 49,323,435 (GRCm39)	T242S	probably benign	Het
Ppp1r13b	A	C	12: 111,803,457 (GRCm39)	S254A	possibly damaging	Het
Pramel17	A	G	4: 101,694,244 (GRCm39)	M213T	probably benign	Het
Ripk3	A	G	14: 56,023,252 (GRCm39)	L151S	unknown	Het
Scmh1	A	T	4: 120,340,820 (GRCm39)	M169L	probably benign	Het
Serpinb9d	A	T	13: 33,382,007 (GRCm39)	R159W	probably damaging	Het
Slc26a9	A	G	1: 131,690,970 (GRCm39)	R583G	possibly damaging	Het
Smim8	T	C	4: 34,769,068 (GRCm39)	E72G	probably damaging	Het
Sned1	A	G	1: 93,199,604 (GRCm39)	N511S	probably damaging	Het
Srprb	A	C	9: 103,078,490 (GRCm39)	V80G	probably benign	Het
Ssx2ip	G	A	3: 146,136,808 (GRCm39)	S352N	probably benign	Het
Tbccd1	A	G	16: 22,652,666 (GRCm39)	S152P	probably damaging	Het
Tenm4	T	C	7: 96,555,761 (GRCm39)	I2822T	possibly damaging	Het
Tff1	A	G	17: 31,383,972 (GRCm39)	V8A	probably benign	Het
Tmem132b	T	A	5: 125,864,566 (GRCm39)	S891T	probably benign	Het
Tmem200c	T	A	17: 69,149,118 (GRCm39)	V567D	probably damaging	Het
Trim3	G	A	7: 105,260,377 (GRCm39)	T708M	probably damaging	Het
Ttn	T	C	2: 76,544,927 (GRCm39)	N32725S	possibly damaging	Het
Ubash3b	T	G	9: 40,926,214 (GRCm39)	E633A	possibly damaging	Het
Usp4	A	G	9: 108,239,780 (GRCm39)	R170G	probably damaging	Het
Wdr33	T	A	18: 32,037,406 (GRCm39)	L1222Q	unknown	Het
Zfhx2	A	G	14: 55,304,562 (GRCm39)	S1141P	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
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
R9485:Pcolce2	UTSW	9	95,520,720 (GRCm39)	nonsense	probably null
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'- AGCATTCAGATCTTTTCTCTGGTG -3'
(R):5'- ATCGCTATTGCAGGACATCC -3'

Sequencing Primer
(F):5'- CACTCGTTTATATCAGCACGTATG -3'
(R):5'- TATTGCAGGACATCCCCCAGG -3'

Posted On

2022-11-14