Mutagenetix > Incidental Mutation

Incidental Mutation 'R5739:Ppox'

444658

Institutional Source

Beutler Lab

Gene Symbol

Ppox

Ensembl Gene

ENSMUSG00000062729

Gene Name

protoporphyrinogen oxidase

Synonyms

MMRRC Submission

043351-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R5739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171104564-171108955 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171107570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 115 (L115P)

Ref Sequence

ENSEMBL: ENSMUSP00000072863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064272] [ENSMUST00000065941] [ENSMUST00000073120] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000111313] [ENSMUST00000149187] [ENSMUST00000126699] [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 damaging
Transcript: ENSMUST00000073120
AA Change: L115P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: L115P

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

noncoding transcript
Transcript: ENSMUST00000126557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142656

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: 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: ENSMUST00000155083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153164

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174720

SMART Domains

Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	40	57	N/A	INTRINSIC
Pfam:UCH	77	162	4.6e-18	PFAM

Meta Mutation Damage Score

0.8075

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (82/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,220,717 (GRCm39)	S50T	probably benign	Het
A930011G23Rik	A	G	5: 99,369,289 (GRCm39)	L529P	probably damaging	Het
Acer2	A	T	4: 86,818,792 (GRCm39)	N147Y	probably damaging	Het
Adamtsl1	A	G	4: 86,150,901 (GRCm39)	E353G	probably damaging	Het
Alg6	T	C	4: 99,632,737 (GRCm39)	F60L	probably benign	Het
Ano6	A	T	15: 95,811,260 (GRCm39)	D120V	probably damaging	Het
Armc3	A	G	2: 19,258,728 (GRCm39)	D265G	possibly damaging	Het
Aurkc	A	T	7: 7,005,859 (GRCm39)	Y249F	probably benign	Het
Bmal1	G	A	7: 112,884,238 (GRCm39)	R92Q	probably damaging	Het
Cacna2d2	A	G	9: 107,389,528 (GRCm39)	I274V	probably benign	Het
Camk2n2	C	A	16: 20,439,830 (GRCm39)	G39C	probably damaging	Het
Ccdc39	A	G	3: 33,880,710 (GRCm39)	L419P	possibly damaging	Het
Cdh23	T	C	10: 60,141,388 (GRCm39)	M3117V	probably damaging	Het
Celsr3	A	G	9: 108,704,357 (GRCm39)	E280G	probably benign	Het
Cherp	TGCTGGTGGTGGGG	TG	8: 73,221,659 (GRCm39)		probably benign	Het
Clcn6	A	G	4: 148,098,646 (GRCm39)	V494A	probably damaging	Het
Col19a1	C	T	1: 24,376,996 (GRCm39)	G450S	probably damaging	Het
Crb2	T	G	2: 37,683,666 (GRCm39)	V1056G	probably damaging	Het
Crtac1	A	G	19: 42,290,612 (GRCm39)	F363S	probably damaging	Het
Dipk2a	A	T	9: 94,402,594 (GRCm39)	V356E	possibly damaging	Het
Dnaaf2	T	C	12: 69,243,715 (GRCm39)	S449G	probably benign	Het
Dnah7b	A	T	1: 46,273,152 (GRCm39)	I2427F	probably damaging	Het
Dnah8	T	A	17: 30,937,981 (GRCm39)	D1619E	probably benign	Het
Dock3	A	T	9: 106,850,995 (GRCm39)	S836T	possibly damaging	Het
Donson	A	T	16: 91,478,117 (GRCm39)		probably null	Het
Drc3	G	A	11: 60,265,956 (GRCm39)	R215H	possibly damaging	Het
Entpd2	T	C	2: 25,289,504 (GRCm39)	S329P	possibly damaging	Het
Eya2	T	C	2: 165,603,857 (GRCm39)	S332P	probably damaging	Het
Fam83f	T	A	15: 80,576,206 (GRCm39)	Y286N	probably damaging	Het
Fat4	T	C	3: 39,037,283 (GRCm39)	V3645A	probably benign	Het
G2e3	T	C	12: 51,419,287 (GRCm39)	F668L	possibly damaging	Het
Gm14403	T	A	2: 177,201,040 (GRCm39)	C329S	probably damaging	Het
Hmcn1	G	A	1: 150,684,448 (GRCm39)	T374I	probably benign	Het
Hmcn1	A	T	1: 150,634,225 (GRCm39)		probably null	Het
Hrnr	T	C	3: 93,230,436 (GRCm39)	S225P	unknown	Het
Ifi202b	C	T	1: 173,798,918 (GRCm39)		probably null	Het
Il10ra	A	T	9: 45,167,368 (GRCm39)	D394E	possibly damaging	Het
Itga2b	A	T	11: 102,356,735 (GRCm39)	D275E	probably benign	Het
Jaml	A	T	9: 45,000,026 (GRCm39)	D108V	probably damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrrtm1	T	C	6: 77,221,872 (GRCm39)	V443A	probably damaging	Het
Mkln1	T	A	6: 31,473,637 (GRCm39)	S126R	probably benign	Het
Myo19	T	C	11: 84,788,450 (GRCm39)	I354T	probably damaging	Het
Nucb1	A	T	7: 45,151,084 (GRCm39)	L99Q	probably damaging	Het
Or4f59	A	G	2: 111,873,128 (GRCm39)	F83S	probably damaging	Het
Pask	A	G	1: 93,249,778 (GRCm39)	S541P	probably benign	Het
Pdpr	A	T	8: 111,861,252 (GRCm39)	I749F	possibly damaging	Het
Pgap6	T	A	17: 26,339,425 (GRCm39)	F580I	probably damaging	Het
Phyhipl	T	C	10: 70,395,399 (GRCm39)	D269G	possibly damaging	Het
Pkdcc	A	G	17: 83,523,223 (GRCm39)	D110G	probably benign	Het
Ppp1r12c	A	G	7: 4,500,281 (GRCm39)	L94P	probably damaging	Het
Ppp6r2	T	A	15: 89,143,276 (GRCm39)	M141K	probably benign	Het
Prl3d1	A	T	13: 27,283,995 (GRCm39)	H188L	probably benign	Het
Psmb3	T	A	11: 97,604,296 (GRCm39)		probably benign	Het
Pxdn	T	A	12: 30,032,333 (GRCm39)	S150T	probably benign	Het
Ripor3	T	C	2: 167,823,203 (GRCm39)	T903A	probably damaging	Het
Rnase4	T	C	14: 51,342,306 (GRCm39)	L10S	probably benign	Het
Rnf224	T	C	2: 25,126,012 (GRCm39)	T114A	probably benign	Het
Rp1l1	A	T	14: 64,269,619 (GRCm39)	E1735V	probably benign	Het
Rrp1b	T	A	17: 32,264,950 (GRCm39)	Y60N	probably damaging	Het
Rsbn1l	A	T	5: 21,110,814 (GRCm39)	V508E	probably damaging	Het
Rubcnl	T	C	14: 75,278,381 (GRCm39)		probably null	Het
Rxfp4	A	G	3: 88,559,209 (GRCm39)		probably benign	Het
Sdccag8	A	G	1: 176,653,797 (GRCm39)	T85A	probably benign	Het
Slc46a1	A	T	11: 78,357,975 (GRCm39)	I343F	possibly damaging	Het
Ssh2	A	G	11: 77,340,639 (GRCm39)	D597G	probably damaging	Het
Syne2	T	A	12: 76,044,239 (GRCm39)	V3942E	possibly damaging	Het
Timd4	T	C	11: 46,708,573 (GRCm39)	S200P	probably benign	Het
Tmc5	G	A	7: 118,265,834 (GRCm39)		probably null	Het
Trbv16	A	G	6: 41,129,013 (GRCm39)	T66A	probably benign	Het
Ttc3	A	T	16: 94,240,183 (GRCm39)	K1103*	probably null	Het
Ttc7b	A	G	12: 100,350,492 (GRCm39)	V458A	probably damaging	Het
Ubxn10	A	G	4: 138,448,134 (GRCm39)	S181P	probably benign	Het
Vmn2r11	A	G	5: 109,207,114 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,002,925 (GRCm39)	N112Y	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zc3h10	T	C	10: 128,380,670 (GRCm39)	N229S	probably benign	Het
Zfp407	T	C	18: 84,226,867 (GRCm39)	*2247W	probably null	Het
Zfyve1	C	A	12: 83,621,910 (GRCm39)	V162L	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
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
R9065:Ppox	UTSW	1	171,105,447 (GRCm39)	critical splice donor site	probably benign
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'- AATGATTCAAGAGTCCCCGG -3'
(R):5'- TGTATGTAGGCGGTACCCTG -3'

Sequencing Primer
(F):5'- TTCAAGAGTCCCCGGGGTTAAG -3'
(R):5'- GGTACCCTGCACCCTCTAC -3'

Posted On

2016-11-21