Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Cpox'

548290

Institutional Source

Beutler Lab

Gene Symbol

Cpox

Ensembl Gene

ENSMUSG00000022742

Gene Name

coproporphyrinogen oxidase

Synonyms

clone 560, nct, Cpo, M100835, cac

MMRRC Submission

045384-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58490571-58500754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58491223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 145 (I145V)

Ref Sequence

ENSEMBL: ENSMUSP00000055455 (fasta)

Gene Model

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

AlphaFold

P36552

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060077
AA Change: I145V

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: I145V

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

Meta Mutation Damage Score

0.2662

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	G	A	15: 51,903,617 (GRCm39)	M13I	probably benign	Het
Abcb5	A	C	12: 118,841,509 (GRCm39)	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,441,730 (GRCm39)	V4L	probably benign	Het
Ap3b2	C	T	7: 81,110,757 (GRCm39)	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,834,236 (GRCm39)	T343S	probably benign	Het
Celsr3	T	A	9: 108,724,793 (GRCm39)	C2957*	probably null	Het
Chd6	G	A	2: 160,867,885 (GRCm39)	Q428*	probably null	Het
Col5a1	C	A	2: 27,915,690 (GRCm39)	C191*	probably null	Het
Csnk2a1	C	T	2: 152,116,091 (GRCm39)	R268C	probably benign	Het
Dclk2	A	G	3: 86,739,038 (GRCm39)		probably null	Het
Dennd5a	T	C	7: 109,504,386 (GRCm39)	E909G	probably benign	Het
Depdc1a	T	A	3: 159,228,489 (GRCm39)	S414T	possibly damaging	Het
Dock5	A	G	14: 68,007,703 (GRCm39)	F1502S	probably damaging	Het
Dop1b	G	T	16: 93,558,951 (GRCm39)	A448S	probably benign	Het
Dsg1c	C	A	18: 20,410,066 (GRCm39)	N511K	probably benign	Het
Epc2	G	T	2: 49,425,334 (GRCm39)	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375 (GRCm39)	I147F	probably benign	Het
Evc	T	C	5: 37,476,446 (GRCm39)	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,452,448 (GRCm39)	R738S	probably benign	Het
Fli1	T	C	9: 32,335,518 (GRCm39)	T305A	probably damaging	Het
Grk5	A	G	19: 61,034,530 (GRCm39)	T93A	probably benign	Het
Grm2	A	T	9: 106,528,424 (GRCm39)	N153K	probably damaging	Het
Helz	A	G	11: 107,540,003 (GRCm39)	T1007A	possibly damaging	Het
Helz2	A	G	2: 180,882,307 (GRCm39)	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,802,656 (GRCm39)	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,163,691 (GRCm39)	K218E	unknown	Het
Hydin	A	T	8: 111,329,920 (GRCm39)	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,457,768 (GRCm39)		probably null	Het
Igfals	T	C	17: 25,099,281 (GRCm39)	L124P	probably damaging	Het
Il24	T	A	1: 130,811,108 (GRCm39)	H142L	possibly damaging	Het
Iqca1l	A	G	5: 24,750,063 (GRCm39)	M660T	probably benign	Het
Kcnh2	A	T	5: 24,536,920 (GRCm39)	H221Q	probably benign	Het
Man1a	A	G	10: 53,796,331 (GRCm39)	S454P	probably damaging	Het
Meiosin	A	T	7: 18,834,053 (GRCm39)		probably benign	Het
Mfsd4b1	C	T	10: 39,879,382 (GRCm39)	V172M	possibly damaging	Het
Mical2	T	A	7: 111,946,008 (GRCm39)	I763K	probably benign	Het
Mybpc3	A	G	2: 90,955,749 (GRCm39)	I594M	possibly damaging	Het
Neo1	T	A	9: 58,897,724 (GRCm39)	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,502,780 (GRCm39)	I265M	probably benign	Het
Or52n5	T	C	7: 104,587,883 (GRCm39)	L50P	probably damaging	Het
Or5bw2	A	G	7: 6,573,782 (GRCm39)	Y264C	probably damaging	Het
Or8b9	T	A	9: 37,766,942 (GRCm39)	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,864,976 (GRCm39)	P257Q	probably benign	Het
Phactr1	A	G	13: 43,286,457 (GRCm39)	D586G	probably damaging	Het
Pkn3	T	A	2: 29,973,548 (GRCm39)		probably null	Het
Prob1	A	T	18: 35,787,553 (GRCm39)	S234T	probably benign	Het
Rab14	A	T	2: 35,073,429 (GRCm39)	L131*	probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,777,164 (GRCm39)	L103P	probably damaging	Het
Rnf10	G	T	5: 115,395,149 (GRCm39)	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,831,087 (GRCm39)	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,725,261 (GRCm39)	T575I	probably benign	Het
Smo	A	G	6: 29,760,229 (GRCm39)	H776R	probably damaging	Het
Speer1f	T	C	5: 11,469,071 (GRCm39)	V74A	possibly damaging	Het
Tns2	A	G	15: 102,012,914 (GRCm39)	M1V	probably null	Het
Ttn	C	A	2: 76,725,036 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,306,240 (GRCm39)	M130L	probably benign	Het
Urb2	C	T	8: 124,755,036 (GRCm39)	H248Y	probably benign	Het
Vit	A	T	17: 78,932,585 (GRCm39)	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,547,310 (GRCm39)	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,511,620 (GRCm39)	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,908,512 (GRCm39)	I876V	probably benign	Het
Zfp442	A	G	2: 150,249,937 (GRCm39)	I655T	probably benign	Het
Zfp574	T	A	7: 24,779,622 (GRCm39)	C215S	possibly damaging	Het
Zfp608	T	C	18: 55,121,069 (GRCm39)	T173A	probably benign	Het
Zfp69	A	T	4: 120,788,598 (GRCm39)	V239D	possibly 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
R5287: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
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'- GTCTGCAGGATCGGATTTGC -3'
(R):5'- GTCCCTTCTGACAGATCACC -3'

Sequencing Primer
(F):5'- AGGATCGGATTTGCCCAGTC -3'
(R):5'- CCTAAACTGCAACTGGTG -3'

Posted On

2019-05-13