Incidental Mutation 'R4413:Cp'
| ID |
328000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cp
|
| Ensembl Gene |
ENSMUSG00000003617 |
| Gene Name |
ceruloplasmin |
| Synonyms |
D3Ertd555e |
| MMRRC Submission |
041136-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20011218-20063309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20020517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 170
(D170V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003714]
[ENSMUST00000091309]
[ENSMUST00000108325]
[ENSMUST00000108328]
[ENSMUST00000108329]
|
| AlphaFold |
Q61147 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003714
AA Change: D170V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: D170V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_3
|
90 |
203 |
5.1e-8 |
PFAM |
|
Pfam:Cu-oxidase
|
220 |
357 |
9.6e-11 |
PFAM |
|
Pfam:Cu-oxidase_2
|
280 |
357 |
1.1e-7 |
PFAM |
|
Pfam:Cu-oxidase_3
|
444 |
556 |
1.4e-7 |
PFAM |
|
Blast:FA58C
|
598 |
673 |
3e-6 |
BLAST |
|
Pfam:Cu-oxidase_3
|
789 |
897 |
2.3e-9 |
PFAM |
|
Pfam:Cu-oxidase_2
|
927 |
1054 |
8.3e-18 |
PFAM |
|
low complexity region
|
1067 |
1078 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091309
AA Change: D170V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: D170V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_3
|
90 |
203 |
7.7e-8 |
PFAM |
|
Pfam:Cu-oxidase
|
220 |
357 |
1.1e-11 |
PFAM |
|
Pfam:Cu-oxidase_2
|
280 |
357 |
2e-7 |
PFAM |
|
Pfam:Cu-oxidase_3
|
444 |
557 |
4.6e-7 |
PFAM |
|
Blast:FA58C
|
599 |
674 |
2e-6 |
BLAST |
|
Pfam:Cu-oxidase_3
|
790 |
898 |
3.4e-9 |
PFAM |
|
Pfam:Cu-oxidase_2
|
928 |
1055 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108325
AA Change: D170V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: D170V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_3
|
90 |
203 |
4.9e-8 |
PFAM |
|
Pfam:Cu-oxidase
|
220 |
357 |
9.3e-11 |
PFAM |
|
Pfam:Cu-oxidase_2
|
280 |
357 |
1e-7 |
PFAM |
|
Pfam:Cu-oxidase_3
|
444 |
556 |
1.4e-7 |
PFAM |
|
Blast:FA58C
|
598 |
673 |
2e-6 |
BLAST |
|
Pfam:Cu-oxidase_3
|
789 |
897 |
2.2e-9 |
PFAM |
|
Pfam:Cu-oxidase_2
|
927 |
1054 |
8.1e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108328
AA Change: D170V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: D170V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_3
|
90 |
203 |
5.1e-8 |
PFAM |
|
Pfam:Cu-oxidase
|
220 |
357 |
9.6e-11 |
PFAM |
|
Pfam:Cu-oxidase_2
|
280 |
357 |
1.1e-7 |
PFAM |
|
Pfam:Cu-oxidase_3
|
444 |
556 |
1.4e-7 |
PFAM |
|
Blast:FA58C
|
598 |
673 |
3e-6 |
BLAST |
|
Pfam:Cu-oxidase_3
|
789 |
897 |
2.3e-9 |
PFAM |
|
Pfam:Cu-oxidase_2
|
927 |
1054 |
8.3e-18 |
PFAM |
|
low complexity region
|
1067 |
1078 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108329
AA Change: D170V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: D170V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_3
|
89 |
203 |
8.7e-8 |
PFAM |
|
Pfam:Cu-oxidase
|
220 |
357 |
7.8e-12 |
PFAM |
|
Pfam:Cu-oxidase_2
|
242 |
356 |
2.1e-7 |
PFAM |
|
Pfam:Cu-oxidase_3
|
445 |
555 |
4.4e-7 |
PFAM |
|
Blast:FA58C
|
599 |
674 |
3e-6 |
BLAST |
|
Pfam:Cu-oxidase_3
|
793 |
898 |
6.1e-9 |
PFAM |
|
Pfam:Cu-oxidase_2
|
931 |
1055 |
5.2e-18 |
PFAM |
|
low complexity region
|
1068 |
1079 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150264
|
| Meta Mutation Damage Score |
0.7427 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (42/45) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a copper-containing glycoprotein found soluble in the serum and GPI-anchored in other tissues. It oxidizes Fe(II) to Fe(III) and is proposed to play an important role in iron homeostasis. In humans mutations of this gene cause aceruloplasminemia, which is characterized by retinal degeneration, diabetes, anemia and neurological symptoms. In mouse deficiency of this gene in combination with a deficiency of its homolog hephaestin causes retinal degeneration and serves as a pathophysiological model for aceruloplasminemia and age-related macular degeneration. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit progressive accumulation of stored iron in the liver, spleen, cerebellum, and brainstem, mild iron deficiency anemia, and impaired motor coordination associated with loss of brainstem dopaminergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Bcdin3d |
A |
G |
15: 99,368,614 (GRCm39) |
L195P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,012,830 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 113,901,965 (GRCm39) |
S553R |
unknown |
Het |
| Dnah17 |
C |
T |
11: 117,915,994 (GRCm39) |
A4303T |
probably benign |
Het |
| Dpp4 |
G |
A |
2: 62,217,484 (GRCm39) |
R38C |
possibly damaging |
Het |
| Dusp6 |
C |
T |
10: 99,099,786 (GRCm39) |
T78M |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,689,866 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,787,051 (GRCm39) |
C295* |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
T |
A |
3: 107,950,644 (GRCm39) |
D85V |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,488,544 (GRCm39) |
N3612D |
possibly damaging |
Het |
| Izumo3 |
T |
C |
4: 92,035,136 (GRCm39) |
D27G |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,718 (GRCm39) |
C151S |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,719 (GRCm39) |
N131S |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,997,932 (GRCm39) |
S699P |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,297,993 (GRCm39) |
V186D |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Mrm1 |
G |
T |
11: 84,710,054 (GRCm39) |
R49S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Noct |
C |
T |
3: 51,157,756 (GRCm39) |
R365W |
probably damaging |
Het |
| Ntn1 |
C |
T |
11: 68,276,736 (GRCm39) |
G71S |
probably damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,040 (GRCm39) |
S186P |
probably damaging |
Het |
| Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,703,880 (GRCm39) |
M52L |
probably benign |
Het |
| Saxo5 |
T |
A |
8: 3,533,529 (GRCm39) |
H278Q |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,906 (GRCm39) |
N212S |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
C |
A |
10: 85,891,456 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tnk2 |
C |
T |
16: 32,488,319 (GRCm39) |
R191C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,556,120 (GRCm39) |
I21968T |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,522 (GRCm39) |
V402E |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,012,672 (GRCm39) |
D1546G |
probably damaging |
Het |
|
| Other mutations in Cp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Cp
|
APN |
3 |
20,039,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00923:Cp
|
APN |
3 |
20,024,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01302:Cp
|
APN |
3 |
20,020,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01407:Cp
|
APN |
3 |
20,031,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01505:Cp
|
APN |
3 |
20,031,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01677:Cp
|
APN |
3 |
20,020,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02013:Cp
|
APN |
3 |
20,042,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02114:Cp
|
APN |
3 |
20,020,511 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02950:Cp
|
APN |
3 |
20,042,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03330:Cp
|
APN |
3 |
20,020,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
iron10
|
UTSW |
3 |
20,043,311 (GRCm39) |
unclassified |
probably benign |
|
|
R0008:Cp
|
UTSW |
3 |
20,022,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Cp
|
UTSW |
3 |
20,022,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Cp
|
UTSW |
3 |
20,029,012 (GRCm39) |
splice site |
probably benign |
|
|
R0632:Cp
|
UTSW |
3 |
20,025,246 (GRCm39) |
missense |
probably null |
0.98 |
|
R1103:Cp
|
UTSW |
3 |
20,036,149 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1137:Cp
|
UTSW |
3 |
20,033,116 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1199:Cp
|
UTSW |
3 |
20,031,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Cp
|
UTSW |
3 |
20,043,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1629:Cp
|
UTSW |
3 |
20,020,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1678:Cp
|
UTSW |
3 |
20,026,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1733:Cp
|
UTSW |
3 |
20,022,383 (GRCm39) |
splice site |
probably benign |
|
|
R1779:Cp
|
UTSW |
3 |
20,011,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1816:Cp
|
UTSW |
3 |
20,022,384 (GRCm39) |
splice site |
probably benign |
|
|
R1990:Cp
|
UTSW |
3 |
20,033,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Cp
|
UTSW |
3 |
20,041,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2179:Cp
|
UTSW |
3 |
20,042,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Cp
|
UTSW |
3 |
20,041,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Cp
|
UTSW |
3 |
20,029,121 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3441:Cp
|
UTSW |
3 |
20,029,121 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3886:Cp
|
UTSW |
3 |
20,043,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Cp
|
UTSW |
3 |
20,025,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4387:Cp
|
UTSW |
3 |
20,031,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Cp
|
UTSW |
3 |
20,020,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Cp
|
UTSW |
3 |
20,042,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4578:Cp
|
UTSW |
3 |
20,028,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Cp
|
UTSW |
3 |
20,011,599 (GRCm39) |
splice site |
probably null |
|
|
R4694:Cp
|
UTSW |
3 |
20,029,049 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4724:Cp
|
UTSW |
3 |
20,026,811 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4910:Cp
|
UTSW |
3 |
20,043,388 (GRCm39) |
unclassified |
probably benign |
|
|
R4960:Cp
|
UTSW |
3 |
20,027,961 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5043:Cp
|
UTSW |
3 |
20,028,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5063:Cp
|
UTSW |
3 |
20,043,379 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5294:Cp
|
UTSW |
3 |
20,020,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5382:Cp
|
UTSW |
3 |
20,033,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5404:Cp
|
UTSW |
3 |
20,043,292 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5569:Cp
|
UTSW |
3 |
20,033,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Cp
|
UTSW |
3 |
20,011,454 (GRCm39) |
missense |
probably benign |
|
|
R5943:Cp
|
UTSW |
3 |
20,018,470 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6492:Cp
|
UTSW |
3 |
20,036,186 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6540:Cp
|
UTSW |
3 |
20,018,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7007:Cp
|
UTSW |
3 |
20,024,137 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7126:Cp
|
UTSW |
3 |
20,034,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Cp
|
UTSW |
3 |
20,039,822 (GRCm39) |
nonsense |
probably null |
|
|
R7212:Cp
|
UTSW |
3 |
20,029,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Cp
|
UTSW |
3 |
20,037,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Cp
|
UTSW |
3 |
20,026,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Cp
|
UTSW |
3 |
20,018,696 (GRCm39) |
splice site |
probably null |
|
|
R7361:Cp
|
UTSW |
3 |
20,018,470 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7578:Cp
|
UTSW |
3 |
20,043,262 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7593:Cp
|
UTSW |
3 |
20,020,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7782:Cp
|
UTSW |
3 |
20,029,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7858:Cp
|
UTSW |
3 |
20,025,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8246:Cp
|
UTSW |
3 |
20,029,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Cp
|
UTSW |
3 |
20,020,570 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8300:Cp
|
UTSW |
3 |
20,011,385 (GRCm39) |
start gained |
probably benign |
|
|
R8507:Cp
|
UTSW |
3 |
20,025,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Cp
|
UTSW |
3 |
20,059,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8826:Cp
|
UTSW |
3 |
20,039,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Cp
|
UTSW |
3 |
20,027,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9018:Cp
|
UTSW |
3 |
20,043,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Cp
|
UTSW |
3 |
20,033,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9111:Cp
|
UTSW |
3 |
20,027,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9439:Cp
|
UTSW |
3 |
20,046,671 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9443:Cp
|
UTSW |
3 |
20,033,083 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9460:Cp
|
UTSW |
3 |
20,018,566 (GRCm39) |
missense |
|
|
|
R9733:Cp
|
UTSW |
3 |
20,033,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Cp
|
UTSW |
3 |
20,043,335 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCACTAGATGATGAGGAC -3'
(R):5'- TTTTGTGATGTGACAACAAGGG -3'
Sequencing Primer
(F):5'- TGATGAGGACTGACAATTATTTCAAC -3'
(R):5'- GTGACAACAAGGGTATATTTATGCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation