Mutagenetix > Incidental Mutation

Incidental Mutation 'R9065:Ppox'

689184

Institutional Source

Beutler Lab

Gene Symbol

Ppox

Ensembl Gene

ENSMUSG00000062729

Gene Name

protoporphyrinogen oxidase

Synonyms

MMRRC Submission

068890-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R9065 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

171104564-171108955 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

TCTTATACCTGGAC to TC at 171105447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072863 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000073120

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729

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

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

probably benign
Transcript: ENSMUST00000151863

Predicted Effect

probably benign
Transcript: ENSMUST00000192956

SMART Domains

Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,323,084 (GRCm39)	N1472S	probably benign	Het
4930447C04Rik	C	A	12: 72,939,604 (GRCm39)	Q435H	possibly damaging	Het
Aass	G	T	6: 23,075,746 (GRCm39)	A797E	probably benign	Het
Ap3b1	T	A	13: 94,608,223 (GRCm39)	Y565N	probably damaging	Het
Arid2	A	G	15: 96,269,372 (GRCm39)	T1162A	probably benign	Het
Atp11b	T	C	3: 35,887,131 (GRCm39)		probably null	Het
Card11	G	A	5: 140,894,297 (GRCm39)	P111S	probably damaging	Het
Ccdc66	T	A	14: 27,213,850 (GRCm39)	E328D	probably damaging	Het
Cldn8	T	A	16: 88,359,902 (GRCm39)	M8L	probably benign	Het
Cnot9	T	A	1: 74,558,142 (GRCm39)	L96*	probably null	Het
Cntnap5c	T	A	17: 58,445,642 (GRCm39)	C561S	probably damaging	Het
Dnah5	A	G	15: 28,293,936 (GRCm39)	D1347G	probably benign	Het
Epb41	A	G	4: 131,682,888 (GRCm39)	V390A		Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Eps15l1	G	T	8: 73,145,762 (GRCm39)	S157*	probably null	Het
Ercc6l2	A	G	13: 63,967,866 (GRCm39)	I155M	possibly damaging	Het
Esco1	G	T	18: 10,594,005 (GRCm39)	T427K	probably benign	Het
Fignl1	C	T	11: 11,752,692 (GRCm39)	C121Y	possibly damaging	Het
Flrt2	A	G	12: 95,746,177 (GRCm39)	S172G	probably damaging	Het
Frmd3	A	T	4: 74,063,269 (GRCm39)		probably null	Het
Fuz	C	T	7: 44,546,721 (GRCm39)	R119W	probably damaging	Het
Gtf2ird2	T	G	5: 134,225,407 (GRCm39)	I165S	probably damaging	Het
Itih1	T	A	14: 30,657,833 (GRCm39)	I417F	probably damaging	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lpp	T	A	16: 24,580,889 (GRCm39)	W327R	probably benign	Het
Msrb2	T	A	2: 19,383,041 (GRCm39)	F56I	possibly damaging	Het
Muc16	A	G	9: 18,554,305 (GRCm39)	I3996T	unknown	Het
Myh4	C	A	11: 67,139,573 (GRCm39)	A630E	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oacyl	T	A	18: 65,840,484 (GRCm39)	F85Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,530 (GRCm39)	C178Y	probably damaging	Het
Or5b118	T	A	19: 13,448,670 (GRCm39)	I70N	probably damaging	Het
Or6c69b	T	A	10: 129,626,727 (GRCm39)	I244F	possibly damaging	Het
Pcdha11	A	C	18: 37,139,877 (GRCm39)	E502A	possibly damaging	Het
Pcnx3	T	C	19: 5,717,582 (GRCm39)	E1509G	possibly damaging	Het
Pfkm	A	T	15: 98,021,680 (GRCm39)	S314C	probably damaging	Het
Plch1	T	C	3: 63,674,924 (GRCm39)	H230R	probably damaging	Het
Ppfia4	A	T	1: 134,251,893 (GRCm39)	V427E	possibly damaging	Het
Prr11	G	A	11: 86,992,249 (GRCm39)	P209S	probably damaging	Het
Prrc2b	C	A	2: 32,109,304 (GRCm39)	Q1690K	probably damaging	Het
Rgs3	A	T	4: 62,620,465 (GRCm39)	M564L	probably benign	Het
Sec24d	T	C	3: 123,149,452 (GRCm39)	Y820H	probably damaging	Het
Six4	A	C	12: 73,159,498 (GRCm39)	I154S	possibly damaging	Het
Spata31e4	A	T	13: 50,856,276 (GRCm39)	H638L	probably benign	Het
Spock3	A	G	8: 63,801,989 (GRCm39)	K323E	probably damaging	Het
Stmn4	A	T	14: 66,596,126 (GRCm39)		probably null	Het
Tafa2	A	G	10: 123,429,421 (GRCm39)	K12E	probably benign	Het
Tanc2	C	T	11: 105,689,518 (GRCm39)	R227*	probably null	Het
Tcp1	T	A	17: 13,139,210 (GRCm39)	V179D	probably damaging	Het
Trmt5	A	T	12: 73,328,038 (GRCm39)	F388L	probably damaging	Het
Tsc2	G	T	17: 24,822,164 (GRCm39)	P1126H	probably benign	Het
Ttn	T	A	2: 76,612,720 (GRCm39)	I17120F	probably damaging	Het
Ttn	T	G	2: 76,778,270 (GRCm39)	K1372N	unknown	Het
U2surp	T	C	9: 95,359,563 (GRCm39)	T652A	probably benign	Het
Utp20	A	G	10: 88,592,972 (GRCm39)	V2239A	probably benign	Het
Vps33b	A	G	7: 79,935,339 (GRCm39)	T356A	probably damaging	Het
Vwf	C	A	6: 125,623,262 (GRCm39)	H1786Q		Het
Wwox	A	G	8: 115,215,682 (GRCm39)	I152V	probably benign	Het
Ythdc2	A	G	18: 44,977,418 (GRCm39)	T405A	probably benign	Het
Zfpm2	A	T	15: 40,962,712 (GRCm39)	I257F	possibly damaging	Het

Other mutations in Ppox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Ppox	APN	1	171,105,453 (GRCm39)	critical splice donor site	probably null
IGL01818:Ppox	APN	1	171,108,318 (GRCm39)	missense	probably benign	0.29
IGL01899:Ppox	APN	1	171,104,655 (GRCm39)	missense	probably benign	0.00
IGL01931:Ppox	APN	1	171,105,456 (GRCm39)	missense	probably null	0.51
IGL02802:Ppox	UTSW	1	171,105,066 (GRCm39)	nonsense	probably null
R0131:Ppox	UTSW	1	171,106,849 (GRCm39)	missense	possibly damaging	0.92
R0131:Ppox	UTSW	1	171,106,849 (GRCm39)	missense	possibly damaging	0.92
R0132:Ppox	UTSW	1	171,106,849 (GRCm39)	missense	possibly damaging	0.92
R0184:Ppox	UTSW	1	171,107,126 (GRCm39)	missense	probably damaging	1.00
R0426:Ppox	UTSW	1	171,105,322 (GRCm39)	missense	probably damaging	1.00
R0542:Ppox	UTSW	1	171,106,818 (GRCm39)	missense	probably damaging	1.00
R0615:Ppox	UTSW	1	171,105,387 (GRCm39)	splice site	probably benign
R1559:Ppox	UTSW	1	171,107,580 (GRCm39)	intron	probably benign
R3687:Ppox	UTSW	1	171,105,066 (GRCm39)	missense	probably damaging	1.00
R4941:Ppox	UTSW	1	171,105,166 (GRCm39)	missense	probably damaging	0.99
R5037:Ppox	UTSW	1	171,105,169 (GRCm39)	missense	probably damaging	1.00
R5599:Ppox	UTSW	1	171,105,033 (GRCm39)	missense	probably damaging	1.00
R5739:Ppox	UTSW	1	171,107,570 (GRCm39)	missense	probably damaging	1.00
R5791:Ppox	UTSW	1	171,104,885 (GRCm39)	missense	probably damaging	1.00
R5892:Ppox	UTSW	1	171,105,034 (GRCm39)	missense	probably damaging	0.98
R7564:Ppox	UTSW	1	171,107,765 (GRCm39)	missense	probably benign	0.14
R7937:Ppox	UTSW	1	171,107,546 (GRCm39)	missense	possibly damaging	0.93
R7949:Ppox	UTSW	1	171,105,521 (GRCm39)	missense	probably benign	0.00
R9417:Ppox	UTSW	1	171,107,855 (GRCm39)	missense	unknown
Z1177:Ppox	UTSW	1	171,108,072 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACAGTCACTCTGAGGCTTG -3'
(R):5'- TGTGCCTTCATATGCCAGC -3'

Sequencing Primer
(F):5'- GATGGCACCAAATGTCCA -3'
(R):5'- CTCCTGGGCTGGGCTAGTAAG -3'

Posted On

2021-11-19