Mutagenetix > Incidental Mutation

Incidental Mutation 'R0426:Ppox'

38624

Institutional Source

Beutler Lab

Gene Symbol

Ppox

Ensembl Gene

ENSMUSG00000062729

Gene Name

protoporphyrinogen oxidase

Synonyms

MMRRC Submission

038628-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R0426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171275990-171281186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171277749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 321 (Y321C)

Ref Sequence

ENSEMBL: ENSMUSP00000141835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064272] [ENSMUST00000065941] [ENSMUST00000073120] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000111313] [ENSMUST00000126699] [ENSMUST00000149187] [ENSMUST00000192956] [ENSMUST00000151863]

AlphaFold

P51175

Predicted Effect

probably benign
Transcript: ENSMUST00000064272

SMART Domains

Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	212	1.7e-59	PFAM
Pfam:Glyco_transf_7C	217	294	6.3e-32	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065941

SMART Domains

Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	556	9.4e-66	PFAM
Pfam:UCH_1	212	538	9.6e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073120
AA Change: Y348C

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

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: Y348C

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	74	1.3e-9	PFAM
Pfam:Amino_oxidase	12	471	1.7e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111305

SMART Domains

Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	556	9.4e-66	PFAM
Pfam:UCH_1	212	538	9.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111306

SMART Domains

Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	559	4.1e-60	PFAM
Pfam:UCH_1	215	541	3.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111313

SMART Domains

Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	214	2.1e-74	PFAM
Pfam:Glyco_transf_7C	217	294	1.7e-31	PFAM
Pfam:Glyco_tranf_2_2	238	298	1e-6	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126699

SMART Domains

Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_7C	1	72	3.2e-28	PFAM
Pfam:Glyco_tranf_2_2	16	76	2.1e-5	PFAM
low complexity region	126	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145019

Predicted Effect

probably benign
Transcript: ENSMUST00000149187

SMART Domains

Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	438	1e-36	PFAM
Pfam:UCH_1	212	436	2.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151442

Predicted Effect

probably damaging
Transcript: ENSMUST00000192956
AA Change: Y321C

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

SMART Domains

Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: Y321C

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	72	1.6e-7	PFAM
Pfam:Amino_oxidase	12	389	4.7e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155083

Predicted Effect

probably benign
Transcript: ENSMUST00000151863

Meta Mutation Damage Score

0.9736

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for the R59W knock-in mutation exhibit elevated stool porphyrin levels and reduced hepatic protoporphyrinogen oxidase activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373 (GRCm38)	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027 (GRCm38)		probably benign	Het
Acadl	A	T	1: 66,841,646 (GRCm38)	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746 (GRCm38)	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033 (GRCm38)	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174 (GRCm38)	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990 (GRCm38)		probably null	Het
Atad5	T	A	11: 80,112,832 (GRCm38)	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827 (GRCm38)	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734 (GRCm38)	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372 (GRCm38)	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027 (GRCm38)		probably null	Het
Cdh9	G	A	15: 16,823,454 (GRCm38)		probably null	Het
Cdk11b	T	C	4: 155,642,512 (GRCm38)		probably benign	Het
Cep70	A	G	9: 99,297,684 (GRCm38)	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970 (GRCm38)	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660 (GRCm38)		probably benign	Het
Cyp2d12	G	A	15: 82,558,963 (GRCm38)	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769 (GRCm38)	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196 (GRCm38)	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542 (GRCm38)	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572 (GRCm38)	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436 (GRCm38)		probably benign	Het
Dysf	T	C	6: 84,149,757 (GRCm38)	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840 (GRCm38)	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473 (GRCm38)	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396 (GRCm38)	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691 (GRCm38)	A69D	probably damaging	Het
Grk2	T	C	19: 4,290,600 (GRCm38)		probably null	Het
Gtf3c1	A	T	7: 125,663,016 (GRCm38)	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685 (GRCm38)		probably benign	Het
Ildr2	G	T	1: 166,308,899 (GRCm38)	V436L	probably benign	Het
Intu	G	A	3: 40,675,305 (GRCm38)	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096 (GRCm38)	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882 (GRCm38)		probably null	Het
Jup	A	T	11: 100,372,401 (GRCm38)	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473 (GRCm38)	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244 (GRCm38)		probably benign	Het
Kdm3a	C	T	6: 71,600,755 (GRCm38)	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437 (GRCm38)		probably benign	Het
Kifap3	T	A	1: 163,865,552 (GRCm38)		probably benign	Het
Macf1	T	A	4: 123,483,660 (GRCm38)	K1400*	probably null	Het
Majin	A	G	19: 6,212,117 (GRCm38)		probably benign	Het
Mb21d1	G	A	9: 78,435,738 (GRCm38)		probably benign	Het
Mctp1	A	G	13: 77,020,821 (GRCm38)	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127 (GRCm38)	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396 (GRCm38)		probably benign	Het
Nox3	G	T	17: 3,695,563 (GRCm38)	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812 (GRCm38)	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278 (GRCm38)	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485 (GRCm38)	N11Y	probably damaging	Het
Olfr389	T	A	11: 73,776,437 (GRCm38)	M297L	probably benign	Het
Olfr524	A	C	7: 140,202,116 (GRCm38)	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686 (GRCm38)	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593 (GRCm38)	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795 (GRCm38)	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804 (GRCm38)	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262 (GRCm38)		probably null	Het
Pcsk9	T	C	4: 106,450,077 (GRCm38)	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801 (GRCm38)	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463 (GRCm38)	Y630C	probably benign	Het
Pidd1	C	T	7: 141,439,133 (GRCm38)	A812T	probably damaging	Het
Plau	G	A	14: 20,842,314 (GRCm38)	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629 (GRCm38)		probably null	Het
Pxdn	A	G	12: 29,987,066 (GRCm38)	N281S	possibly damaging	Het
Pycrl	A	T	15: 75,918,388 (GRCm38)	M138K	probably benign	Het
Radil	T	C	5: 142,497,873 (GRCm38)	Y526C	probably damaging	Het
Ranbp3	C	A	17: 56,707,169 (GRCm38)	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872 (GRCm38)	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,568,612 (GRCm38)		probably benign	Het
Sel1l2	A	T	2: 140,240,912 (GRCm38)	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355 (GRCm38)	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333 (GRCm38)	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259 (GRCm38)		probably benign	Het
Synj1	G	T	16: 90,967,354 (GRCm38)	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763 (GRCm38)		probably benign	Het
Tenm4	G	T	7: 96,777,851 (GRCm38)	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182 (GRCm38)	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503 (GRCm38)	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821 (GRCm38)	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311 (GRCm38)	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525 (GRCm38)	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584 (GRCm38)	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772 (GRCm38)	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348 (GRCm38)	L429I	possibly damaging	Het

Other mutations in Ppox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Ppox	APN	1	171,277,880 (GRCm38)	critical splice donor site	probably null
IGL01818:Ppox	APN	1	171,280,744 (GRCm38)	missense	probably benign	0.29
IGL01899:Ppox	APN	1	171,277,082 (GRCm38)	missense	probably benign	0.00
IGL01931:Ppox	APN	1	171,277,883 (GRCm38)	missense	probably null	0.51
IGL02802:Ppox	UTSW	1	171,277,493 (GRCm38)	nonsense	probably null
R0131:Ppox	UTSW	1	171,279,275 (GRCm38)	missense	possibly damaging	0.92
R0131:Ppox	UTSW	1	171,279,275 (GRCm38)	missense	possibly damaging	0.92
R0132:Ppox	UTSW	1	171,279,275 (GRCm38)	missense	possibly damaging	0.92
R0184:Ppox	UTSW	1	171,279,552 (GRCm38)	missense	probably damaging	1.00
R0542:Ppox	UTSW	1	171,279,244 (GRCm38)	missense	probably damaging	1.00
R0615:Ppox	UTSW	1	171,277,814 (GRCm38)	splice site	probably benign
R1559:Ppox	UTSW	1	171,280,006 (GRCm38)	intron	probably benign
R3687:Ppox	UTSW	1	171,277,493 (GRCm38)	missense	probably damaging	1.00
R4941:Ppox	UTSW	1	171,277,593 (GRCm38)	missense	probably damaging	0.99
R5037:Ppox	UTSW	1	171,277,596 (GRCm38)	missense	probably damaging	1.00
R5599:Ppox	UTSW	1	171,277,460 (GRCm38)	missense	probably damaging	1.00
R5739:Ppox	UTSW	1	171,279,996 (GRCm38)	missense	probably damaging	1.00
R5791:Ppox	UTSW	1	171,277,312 (GRCm38)	missense	probably damaging	1.00
R5892:Ppox	UTSW	1	171,277,461 (GRCm38)	missense	probably damaging	0.98
R7564:Ppox	UTSW	1	171,280,191 (GRCm38)	missense	probably benign	0.14
R7937:Ppox	UTSW	1	171,279,972 (GRCm38)	missense	possibly damaging	0.93
R7949:Ppox	UTSW	1	171,277,948 (GRCm38)	missense	probably benign	0.00
R9065:Ppox	UTSW	1	171,277,874 (GRCm38)	critical splice donor site	probably benign
R9417:Ppox	UTSW	1	171,280,281 (GRCm38)	missense	unknown
Z1177:Ppox	UTSW	1	171,280,498 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTCTGTAGCCAGTAACCTCCC -3'
(R):5'- CTAGCCTAGAATGAACGCCTGCTC -3'

Sequencing Primer
(F):5'- CAACATCACCTACGAGGAGACG -3'
(R):5'- TACCATCAAGGCAGTGTCTG -3'

Posted On

2013-05-23