Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02152:Cpox'

282067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpox

Ensembl Gene

ENSMUSG00000022742

Gene Name

coproporphyrinogen oxidase

Synonyms

nct, Cpo, cac, clone 560

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

58670292-58717636 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58674424 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 275 (T275A)

Ref Sequence

ENSEMBL: ENSMUSP00000055455 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060077
AA Change: T275A

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: T275A

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

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,225	I143V	probably benign	Het
1700028K03Rik	A	G	5: 107,548,117	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,542,754	Y289H	possibly damaging	Het
Adamts17	T	A	7: 67,125,000	S956T	probably benign	Het
Adamts6	A	T	13: 104,313,660	S290C	probably null	Het
Apaf1	A	T	10: 91,061,819	H267Q	probably benign	Het
Aplp2	G	A	9: 31,211,651	P26L	unknown	Het
Arid1b	C	T	17: 5,313,968	S1019F	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Ass1	T	C	2: 31,492,324	I169T	probably damaging	Het
Ccser1	A	G	6: 61,311,708	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,649,012	V2737A	probably benign	Het
Chrm5	A	G	2: 112,480,568	Y68H	probably damaging	Het
Cops4	A	G	5: 100,533,590	T164A	probably benign	Het
Cox4i1	A	G	8: 120,672,865	S72G	probably benign	Het
Cyb5a	T	C	18: 84,873,156	I68T	probably benign	Het
Efna5	T	C	17: 62,651,060	D67G	probably benign	Het
Enpp3	T	C	10: 24,774,002	E842G	probably damaging	Het
Fam208b	C	T	13: 3,585,371	E479K	probably benign	Het
Fam210b	A	G	2: 172,351,503	K79E	probably benign	Het
Gm17359	T	C	3: 79,345,532	I18T	possibly damaging	Het
Gm4799	T	C	10: 82,954,755		noncoding transcript	Het
Gpr146	A	T	5: 139,392,712	R90W	probably damaging	Het
Hal	A	G	10: 93,503,542	I498V	possibly damaging	Het
Hist1h2af	A	G	13: 23,534,281	H124R	probably benign	Het
Hnrnpm	C	T	17: 33,658,412	G365R	probably damaging	Het
Jakmip3	A	G	7: 139,025,488	D407G	probably damaging	Het
Kank1	A	G	19: 25,428,172	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 111,025,210	M233L	probably benign	Het
Klhl5	A	T	5: 65,148,800	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Las1l	A	G	X: 95,953,302	V130A	probably damaging	Het
Lrp2bp	A	T	8: 46,023,044	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,137,943	K285M	probably damaging	Het
Mpp3	A	T	11: 102,025,390	Y45*	probably null	Het
Muc4	T	A	16: 32,777,649		probably benign	Het
Muc5ac	T	C	7: 141,800,177	C837R	possibly damaging	Het
Mum1	A	G	10: 80,239,978	D466G	probably damaging	Het
Nr2f6	T	A	8: 71,376,166	I155F	probably damaging	Het
Nsg1	A	G	5: 38,144,801	F50L	probably benign	Het
Olfr304	T	A	7: 86,386,043	M206L	probably benign	Het
Ostf1	C	A	19: 18,590,458	G101C	probably damaging	Het
Pam	C	T	1: 97,840,749	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 109,669,292	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,669,285	H484L	probably benign	Het
Rfx5	G	A	3: 94,957,182	R213Q	probably damaging	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,315,514	S73P	probably damaging	Het
Sec22c	G	A	9: 121,684,779	A264V	probably benign	Het
Sis	A	C	3: 72,888,986		probably benign	Het
Spam1	T	A	6: 24,800,803		probably benign	Het
St13	T	A	15: 81,366,382	I318F	probably damaging	Het
Syne1	T	C	10: 5,424,382	I142V	probably damaging	Het
Trpm6	A	T	19: 18,832,539	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,135,540	W90*	probably null	Het
Txndc12	T	A	4: 108,834,792	C9*	probably null	Het
Ubr7	C	T	12: 102,768,276	Q270*	probably null	Het
Vps33b	A	G	7: 80,285,069	S302G	probably benign	Het
Xylt1	T	A	7: 117,634,770	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,436,691	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,332,928		probably benign	Het
Zscan18	A	T	7: 12,775,296		probably benign	Het

Other mutations in Cpox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03031:Cpox	APN	16	58672560	missense	probably damaging	1.00
IGL03034:Cpox	APN	16	58675355	missense	probably damaging	0.98
scraggy	UTSW	16	58670935	missense	probably damaging	1.00
R0413:Cpox	UTSW	16	58670869	missense	possibly damaging	0.52
R0523:Cpox	UTSW	16	58675245	nonsense	probably null
R0551:Cpox	UTSW	16	58675390	missense	probably benign	0.11
R2064:Cpox	UTSW	16	58674409	missense	probably benign	0.36
R4651:Cpox	UTSW	16	58670687	missense	possibly damaging	0.92
R4701:Cpox	UTSW	16	58677969	nonsense	probably null
R4782:Cpox	UTSW	16	58672623	missense	probably damaging	1.00
R5285:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5287:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5313:Cpox	UTSW	16	58677948	nonsense	probably null
R5346:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5354:Cpox	UTSW	16	58670842	missense	probably damaging	0.99
R5404:Cpox	UTSW	16	58675286	missense	probably damaging	1.00
R5476:Cpox	UTSW	16	58678725	missense	probably damaging	0.99
R5853:Cpox	UTSW	16	58675417	missense	probably damaging	0.99
R6026:Cpox	UTSW	16	58670935	missense	probably damaging	1.00
R7059:Cpox	UTSW	16	58670927	missense	probably damaging	1.00
R7061:Cpox	UTSW	16	58670860	missense	possibly damaging	0.76
R7606:Cpox	UTSW	16	58674449	missense	probably benign	0.16
RF059:Cpox	UTSW	16	58670767	missense	probably benign	0.00

Posted On

2015-04-16