Mutagenetix > Incidental Mutation

Incidental Mutation 'R7606:Cpox'

588329

Institutional Source

Beutler Lab

Gene Symbol

Cpox

Ensembl Gene

ENSMUSG00000022742

Gene Name

coproporphyrinogen oxidase

Synonyms

clone 560, nct, Cpo, M100835, cac

MMRRC Submission

045676-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7606 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58490571-58500754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58494812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 283 (V283A)

Ref Sequence

ENSEMBL: ENSMUSP00000055455 (fasta)

Gene Model

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

AlphaFold

P36552

Predicted Effect

probably benign
Transcript: ENSMUST00000060077
AA Change: V283A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: V283A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,943,456 (GRCm39)		probably null	Het
Adat1	T	C	8: 112,709,236 (GRCm39)	K196E	possibly damaging	Het
Aire	T	C	10: 77,873,767 (GRCm39)	D314G	probably damaging	Het
Atp11a	C	T	8: 12,894,427 (GRCm39)	T674I	probably damaging	Het
Atp8b1	T	C	18: 64,688,186 (GRCm39)	D644G	probably damaging	Het
Bag4	A	G	8: 26,259,333 (GRCm39)	S289P	probably damaging	Het
Bcat1	G	T	6: 144,994,358 (GRCm39)	H46Q	probably benign	Het
Btg4	A	G	9: 51,029,307 (GRCm39)	N164S	probably damaging	Het
Ccz1	G	A	5: 143,951,626 (GRCm39)	A2V	probably benign	Het
Cd209g	T	C	8: 4,186,839 (GRCm39)	L128P	probably damaging	Het
Col4a2	T	A	8: 11,493,571 (GRCm39)	M1380K	probably benign	Het
Dnah10	A	T	5: 124,894,776 (GRCm39)	D3504V	probably benign	Het
Eml1	A	T	12: 108,503,625 (GRCm39)	I741F	probably benign	Het
Fam171a2	A	G	11: 102,335,002 (GRCm39)	V45A	possibly damaging	Het
Fem1a	A	G	17: 56,563,946 (GRCm39)	D13G	probably damaging	Het
Fkbp14	A	G	6: 54,570,003 (GRCm39)	I9T	probably benign	Het
Golt1b	G	A	6: 142,338,068 (GRCm39)	G13D	probably damaging	Het
Heatr5b	T	C	17: 79,070,455 (GRCm39)	N1653D	probably benign	Het
Hrg	A	G	16: 22,769,873 (GRCm39)	M1V	probably null	Het
Itgb2	T	A	10: 77,391,995 (GRCm39)	I356N	probably damaging	Het
Kcnb2	A	G	1: 15,383,064 (GRCm39)	E130G	probably damaging	Het
Kpna2	A	T	11: 106,882,884 (GRCm39)	F124Y	probably damaging	Het
Lyst	T	C	13: 13,812,060 (GRCm39)	I824T	probably damaging	Het
Meis2	T	C	2: 115,893,801 (GRCm39)	H38R	possibly damaging	Het
Mknk1	T	G	4: 115,735,191 (GRCm39)	I353S	probably damaging	Het
Mrc1	T	A	2: 14,242,955 (GRCm39)	I27N	probably damaging	Het
Mup4	T	C	4: 59,958,568 (GRCm39)	T111A	probably damaging	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Neb	T	G	2: 52,116,456 (GRCm39)	E994A		Het
Nlrc5	T	C	8: 95,203,745 (GRCm39)	M615T	possibly damaging	Het
Nup88	T	C	11: 70,852,441 (GRCm39)	E218G	possibly damaging	Het
Or10g3b	A	T	14: 52,587,420 (GRCm39)	F28I	probably benign	Het
Or4c114	A	G	2: 88,905,641 (GRCm39)		probably benign	Het
Parp11	A	G	6: 127,447,723 (GRCm39)	D19G	probably benign	Het
Parp2	A	T	14: 51,057,487 (GRCm39)	T429S	probably damaging	Het
Pcdhb6	G	A	18: 37,468,659 (GRCm39)	E527K	probably damaging	Het
Pde8a	A	G	7: 80,982,715 (GRCm39)	Y778C	probably damaging	Het
Pea15a	T	C	1: 172,028,150 (GRCm39)		probably null	Het
Plcd3	A	G	11: 102,967,683 (GRCm39)	Y420H	probably damaging	Het
Ppp1ca	C	A	19: 4,243,088 (GRCm39)	S85R	possibly damaging	Het
Pth	A	C	7: 112,985,450 (GRCm39)	I13S	probably benign	Het
Rbm27	A	G	18: 42,460,578 (GRCm39)	T842A	probably damaging	Het
Rcbtb2	T	A	14: 73,419,806 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,276,314 (GRCm39)	L323F	probably benign	Het
Ryr3	A	T	2: 112,475,590 (GRCm39)	Y4539*	probably null	Het
Scamp3	T	A	3: 89,088,525 (GRCm39)	F244I	probably damaging	Het
Sema4d	T	C	13: 51,877,658 (GRCm39)	D58G	probably benign	Het
Skor1	G	T	9: 63,052,664 (GRCm39)	A435E	probably damaging	Het
Slc35a4	A	G	18: 36,815,638 (GRCm39)	Y156C	probably benign	Het
Spryd7	T	C	14: 61,777,607 (GRCm39)	T158A	possibly damaging	Het
Srgap3	A	C	6: 112,716,337 (GRCm39)	I621S	probably benign	Het
Tbc1d31	A	G	15: 57,815,066 (GRCm39)	E581G	probably damaging	Het
Tcf4	C	T	18: 69,776,054 (GRCm39)	T318I	probably damaging	Het
Usf3	C	T	16: 44,039,306 (GRCm39)	T1262M	probably damaging	Het
Vcam1	T	C	3: 115,914,704 (GRCm39)	D316G	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,362 (GRCm39)	E229V	possibly damaging	Het
Zfhx2	T	C	14: 55,304,120 (GRCm39)	E1288G	probably benign	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
R7061:Cpox	UTSW	16	58,491,223 (GRCm39)	missense	possibly damaging	0.76
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'- ACTGCCACCTATTTCATGGTG -3'
(R):5'- GGGTGCTTTCATCTACCGTC -3'

Sequencing Primer
(F):5'- TCATGGTGATGAATTAACTTGCTG -3'
(R):5'- GCTAAACATGGAGAATAGACCTTAAC -3'

Posted On

2019-10-24