Incidental Mutation 'R5476:Cpox'
| ID |
434097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpox
|
| Ensembl Gene |
ENSMUSG00000022742 |
| Gene Name |
coproporphyrinogen oxidase |
| Synonyms |
clone 560, nct, Cpo, M100835, cac |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58490571-58500754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 58499088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 434
(V434L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060077]
|
| AlphaFold |
P36552 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060077
AA Change: V434L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: V434L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
Pfam:Coprogen_oxidas
|
140 |
442 |
7.6e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232532
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a spontaneous allele develop cataracts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
| Other mutations in Cpox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Cpox
|
APN |
16 |
58,494,787 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03031:Cpox
|
APN |
16 |
58,492,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03034:Cpox
|
APN |
16 |
58,495,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
scraggy
|
UTSW |
16 |
58,491,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Cpox
|
UTSW |
16 |
58,491,232 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0523:Cpox
|
UTSW |
16 |
58,495,608 (GRCm39) |
nonsense |
probably null |
|
|
R0551:Cpox
|
UTSW |
16 |
58,495,753 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2064:Cpox
|
UTSW |
16 |
58,494,772 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4651:Cpox
|
UTSW |
16 |
58,491,050 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4701:Cpox
|
UTSW |
16 |
58,498,332 (GRCm39) |
nonsense |
probably null |
|
|
R4782:Cpox
|
UTSW |
16 |
58,492,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Cpox
|
UTSW |
16 |
58,495,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Cpox
|
UTSW |
16 |
58,495,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Cpox
|
UTSW |
16 |
58,498,311 (GRCm39) |
nonsense |
probably null |
|
|
R5346:Cpox
|
UTSW |
16 |
58,495,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Cpox
|
UTSW |
16 |
58,491,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5404:Cpox
|
UTSW |
16 |
58,495,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Cpox
|
UTSW |
16 |
58,495,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6026:Cpox
|
UTSW |
16 |
58,491,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Cpox
|
UTSW |
16 |
58,491,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Cpox
|
UTSW |
16 |
58,491,223 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7606:Cpox
|
UTSW |
16 |
58,494,812 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8753:Cpox
|
UTSW |
16 |
58,498,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8779:Cpox
|
UTSW |
16 |
58,491,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8793:Cpox
|
UTSW |
16 |
58,493,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Cpox
|
UTSW |
16 |
58,490,984 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9736:Cpox
|
UTSW |
16 |
58,494,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF059:Cpox
|
UTSW |
16 |
58,491,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGTAGTCACAGTGGGGTG -3'
(R):5'- GACAGTTTGACATCCCCACC -3'
Sequencing Primer
(F):5'- GGAGGAACTATGCATTGTTTTTACTC -3'
(R):5'- TGGAAAAGATCAAAACCGCCTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation