Mutagenetix > Incidental Mutation

Incidental Mutation 'R5287:Cpox'

424434

Institutional Source

Beutler Lab

Gene Symbol

Cpox

Ensembl Gene

ENSMUSG00000022742

Gene Name

coproporphyrinogen oxidase

Synonyms

clone 560, nct, Cpo, M100835, cac

MMRRC Submission

042871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58490571-58500754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58495649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 322 (G322D)

Ref Sequence

ENSEMBL: ENSMUSP00000055455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060077]

AlphaFold

P36552

Predicted Effect

probably damaging
Transcript: ENSMUST00000060077
AA Change: G322D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: G322D

Domain	Start	End	E-Value	Type
low complexity region	57	81	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:Coprogen_oxidas	140	442	7.6e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232532

Meta Mutation Damage Score

0.9743

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a spontaneous allele develop cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	C	2: 93,666,298 (GRCm39)	D463G	probably damaging	Het
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Arpin	T	C	7: 79,577,997 (GRCm39)	E144G	probably damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Asxl2	A	G	12: 3,546,893 (GRCm39)	N559S	probably benign	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Btnl9	A	G	11: 49,060,434 (GRCm39)	V438A	probably benign	Het
Cat	T	C	2: 103,304,705 (GRCm39)	T107A	probably damaging	Het
Catsperg2	T	C	7: 29,397,263 (GRCm39)	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,411,527 (GRCm39)	F632I	possibly damaging	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Celf1	T	C	2: 90,839,552 (GRCm39)	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Clhc1	A	G	11: 29,528,244 (GRCm39)		probably benign	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,151,732 (GRCm39)	V240G	probably damaging	Het
Fezf1	C	T	6: 23,248,010 (GRCm39)	V22M	probably benign	Het
Gm6818	T	G	7: 38,099,911 (GRCm39)		noncoding transcript	Het
Hand2	C	T	8: 57,775,080 (GRCm39)	L47F	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Itga7	C	A	10: 128,779,027 (GRCm39)	R351S	probably benign	Het
Mmp8	G	T	9: 7,567,507 (GRCm39)	A456S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Otog	T	C	7: 45,918,753 (GRCm39)	F943S	probably damaging	Het
Pcnx1	A	T	12: 82,028,825 (GRCm39)	Y1668F	probably damaging	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,181,929 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Ptprn2	A	T	12: 117,175,482 (GRCm39)	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,367,860 (GRCm39)	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,073,607 (GRCm39)	V1335A	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Spdye4c	T	C	2: 128,434,560 (GRCm39)	S46P	possibly damaging	Het
Syde1	T	C	10: 78,425,871 (GRCm39)	R99G	probably benign	Het
T2	A	T	17: 8,636,835 (GRCm39)	M57L	probably benign	Het
Tasor2	G	A	13: 3,625,744 (GRCm39)	S1402L	probably benign	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Tk1	A	T	11: 117,707,367 (GRCm39)	V140E	probably damaging	Het
Tln2	G	A	9: 67,149,641 (GRCm39)	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,220,957 (GRCm39)	A210S	probably damaging	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ttn	G	T	2: 76,562,436 (GRCm39)	S28803Y	probably damaging	Het
Wdr90	A	T	17: 26,080,441 (GRCm39)		probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het

Other mutations in Cpox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Cpox	APN	16	58,494,787 (GRCm39)	missense	possibly damaging	0.87
IGL03031:Cpox	APN	16	58,492,923 (GRCm39)	missense	probably damaging	1.00
IGL03034:Cpox	APN	16	58,495,718 (GRCm39)	missense	probably damaging	0.98
scraggy	UTSW	16	58,491,298 (GRCm39)	missense	probably damaging	1.00
R0413:Cpox	UTSW	16	58,491,232 (GRCm39)	missense	possibly damaging	0.52
R0523:Cpox	UTSW	16	58,495,608 (GRCm39)	nonsense	probably null
R0551:Cpox	UTSW	16	58,495,753 (GRCm39)	missense	probably benign	0.11
R2064:Cpox	UTSW	16	58,494,772 (GRCm39)	missense	probably benign	0.36
R4651:Cpox	UTSW	16	58,491,050 (GRCm39)	missense	possibly damaging	0.92
R4701:Cpox	UTSW	16	58,498,332 (GRCm39)	nonsense	probably null
R4782:Cpox	UTSW	16	58,492,986 (GRCm39)	missense	probably damaging	1.00
R5285:Cpox	UTSW	16	58,495,649 (GRCm39)	missense	probably damaging	1.00
R5313:Cpox	UTSW	16	58,498,311 (GRCm39)	nonsense	probably null
R5346:Cpox	UTSW	16	58,495,649 (GRCm39)	missense	probably damaging	1.00
R5354:Cpox	UTSW	16	58,491,205 (GRCm39)	missense	probably damaging	0.99
R5404:Cpox	UTSW	16	58,495,649 (GRCm39)	missense	probably damaging	1.00
R5476:Cpox	UTSW	16	58,499,088 (GRCm39)	missense	probably damaging	0.99
R5853:Cpox	UTSW	16	58,495,780 (GRCm39)	missense	probably damaging	0.99
R6026:Cpox	UTSW	16	58,491,298 (GRCm39)	missense	probably damaging	1.00
R7059:Cpox	UTSW	16	58,491,290 (GRCm39)	missense	probably damaging	1.00
R7061:Cpox	UTSW	16	58,491,223 (GRCm39)	missense	possibly damaging	0.76
R7606:Cpox	UTSW	16	58,494,812 (GRCm39)	missense	probably benign	0.16
R8753:Cpox	UTSW	16	58,498,391 (GRCm39)	missense	probably damaging	1.00
R8779:Cpox	UTSW	16	58,491,229 (GRCm39)	missense	probably damaging	1.00
R8793:Cpox	UTSW	16	58,493,708 (GRCm39)	missense	probably damaging	1.00
R9667:Cpox	UTSW	16	58,490,984 (GRCm39)	missense	possibly damaging	0.52
R9736:Cpox	UTSW	16	58,494,746 (GRCm39)	missense	probably benign	0.00
RF059:Cpox	UTSW	16	58,491,130 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAAAGTCTGGCTAGAGTCCTC -3'
(R):5'- GTGTAGACTGTTCACCCTCC -3'

Sequencing Primer
(F):5'- CCTCGTTTTGTAGTCCTAGAGAAAAC -3'
(R):5'- GTAGACTGTTCACCCTCCTGTCAC -3'

Posted On

2016-08-04