Incidental Mutation 'R0131:Ppox'
| ID |
68263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppox
|
| Ensembl Gene |
ENSMUSG00000062729 |
| Gene Name |
protoporphyrinogen oxidase |
| Synonyms |
|
| MMRRC Submission |
038416-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R0131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 171106849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 192
(A192S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000065941]
[ENSMUST00000073120]
[ENSMUST00000111305]
[ENSMUST00000111306]
[ENSMUST00000111313]
[ENSMUST00000151863]
[ENSMUST00000126699]
[ENSMUST00000149187]
[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 |
possibly damaging
Transcript: ENSMUST00000073120
AA Change: A219S
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: A219S
| 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: ENSMUST00000126765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000152689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192956
AA Change: A192S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: A192S
| 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 |
|
| Meta Mutation Damage Score |
0.1535 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
| Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,682,009 (GRCm39) |
T196S |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
| Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
| Dazap1 |
T |
G |
10: 80,114,060 (GRCm39) |
|
probably null |
Het |
| Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,164,037 (GRCm39) |
S3073T |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
| Gm16069 |
T |
C |
3: 89,088,232 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
| Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
| Kif3a |
A |
G |
11: 53,477,743 (GRCm39) |
K404R |
possibly damaging |
Het |
| Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
| Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
| Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,844 (GRCm39) |
I92M |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,058,577 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
| Ptprn2 |
T |
G |
12: 116,685,711 (GRCm39) |
F57V |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
| Rab26 |
C |
T |
17: 24,749,759 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,681,673 (GRCm39) |
K407E |
probably damaging |
Het |
| Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
| Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,751 (GRCm39) |
I73T |
probably benign |
Het |
| Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,381,437 (GRCm39) |
|
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,631,845 (GRCm39) |
|
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
| Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
| Tusc1 |
A |
T |
4: 93,223,070 (GRCm39) |
H196Q |
probably benign |
Het |
| Ugt2a1 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
| Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
| Zfp879 |
C |
A |
11: 50,724,426 (GRCm39) |
G210V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
probably benign |
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 |
|
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 |
|
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'- TGACGTAGGTTCGCTACACTCCAG -3'
(R):5'- AGTCTCTCACAAGCAGGGCCAATG -3'
Sequencing Primer
(F):5'- CGCTACACTCCAGAGGTTC -3'
(R):5'- AGGTACTGTGTACAAGGGGT -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation