Incidental Mutation 'R7949:Ppox'
| ID |
649445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppox
|
| Ensembl Gene |
ENSMUSG00000062729 |
| Gene Name |
protoporphyrinogen oxidase |
| Synonyms |
|
| MMRRC Submission |
045994-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R7949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 171105521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 307
(S307R)
|
| 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
AA Change: S307R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: S307R
| 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
AA Change: S280R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: S280R
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,303,353 (GRCm39) |
T6111M |
probably damaging |
Het |
| Adprhl1 |
T |
G |
8: 13,274,225 (GRCm39) |
R844S |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,807 (GRCm39) |
E115G |
possibly damaging |
Het |
| Anp32a |
A |
G |
9: 62,280,948 (GRCm39) |
E170G |
unknown |
Het |
| Arhgap27 |
A |
G |
11: 103,228,595 (GRCm39) |
S349P |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,685,328 (GRCm39) |
I110F |
probably damaging |
Het |
| Atad3a |
T |
C |
4: 155,833,152 (GRCm39) |
H437R |
possibly damaging |
Het |
| Atl2 |
C |
A |
17: 80,167,289 (GRCm39) |
R244L |
probably damaging |
Het |
| Bcl2l14 |
A |
T |
6: 134,407,083 (GRCm39) |
D222V |
probably damaging |
Het |
| Ccdc102a |
G |
T |
8: 95,631,913 (GRCm39) |
Q498K |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,338,212 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
G |
A |
7: 130,895,324 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
A |
9: 87,088,901 (GRCm39) |
M994L |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,483,047 (GRCm39) |
Y580H |
probably damaging |
Het |
| Entpd6 |
C |
A |
2: 150,612,197 (GRCm39) |
|
probably null |
Het |
| Fer |
T |
A |
17: 64,440,503 (GRCm39) |
S707T |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,207,826 (GRCm39) |
V215A |
probably benign |
Het |
| Gm20671 |
A |
G |
5: 32,977,288 (GRCm39) |
V142A |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,250,253 (GRCm39) |
N1439K |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,414 (GRCm39) |
K10R |
probably benign |
Het |
| Ighv5-8 |
TATATATATATATATATATATATA |
TATATATATATATATATATATATATA |
12: 113,618,563 (GRCm39) |
|
probably null |
Het |
| Igkv12-44 |
A |
T |
6: 69,791,874 (GRCm39) |
S30T |
probably benign |
Het |
| Immt |
A |
T |
6: 71,851,327 (GRCm39) |
R563* |
probably null |
Het |
| Jakmip1 |
A |
T |
5: 37,339,492 (GRCm39) |
Q1231L |
probably damaging |
Het |
| Jsrp1 |
T |
C |
10: 80,647,906 (GRCm39) |
T51A |
probably benign |
Het |
| Krtap31-1 |
A |
G |
11: 99,799,144 (GRCm39) |
T116A |
possibly damaging |
Het |
| Lrp8 |
T |
A |
4: 107,660,524 (GRCm39) |
D61E |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,262,081 (GRCm39) |
D311G |
probably benign |
Het |
| Men1 |
C |
T |
19: 6,388,323 (GRCm39) |
S314L |
possibly damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,234,397 (GRCm39) |
N290S |
possibly damaging |
Het |
| Or2f2 |
T |
C |
6: 42,767,588 (GRCm39) |
V205A |
possibly damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,610 (GRCm39) |
|
probably null |
Het |
| Pcolce2 |
A |
T |
9: 95,576,688 (GRCm39) |
T320S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
| Phf21b |
G |
T |
15: 84,676,036 (GRCm39) |
P337H |
probably damaging |
Het |
| Pinlyp |
G |
T |
7: 24,245,375 (GRCm39) |
T15K |
probably damaging |
Het |
| Ptk7 |
T |
A |
17: 46,897,387 (GRCm39) |
E315V |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,144,233 (GRCm38) |
I327T |
probably damaging |
Het |
| Rabgap1 |
A |
T |
2: 37,453,491 (GRCm39) |
K973I |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,851,892 (GRCm39) |
I238L |
probably benign |
Het |
| Runx2 |
T |
A |
17: 45,046,442 (GRCm39) |
D109V |
possibly damaging |
Het |
| Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,939,991 (GRCm39) |
G171C |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,467,795 (GRCm39) |
I451T |
possibly damaging |
Het |
| Sugp1 |
A |
T |
8: 70,509,153 (GRCm39) |
Y142F |
possibly damaging |
Het |
| Sumf2 |
T |
C |
5: 129,881,759 (GRCm39) |
F98S |
probably damaging |
Het |
| Tmem120a |
C |
T |
5: 135,771,220 (GRCm39) |
E39K |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,936,103 (GRCm39) |
P2680L |
probably damaging |
Het |
| Zfp78 |
C |
G |
7: 6,382,365 (GRCm39) |
R472G |
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 |
|
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'- AGTCGTACACAATTCCCAGG -3'
(R):5'- CCAGCTTCAGGTAATGGGAC -3'
Sequencing Primer
(F):5'- AATTCCCAGGACAGTCGGGTC -3'
(R):5'- GGACAGCCCTTCCCTTTCCTAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation