Incidental Mutation 'R0320:Cp'
ID 38269
Institutional Source Beutler Lab
Gene Symbol Cp
Ensembl Gene ENSMUSG00000003617
Gene Name ceruloplasmin
Synonyms D3Ertd555e
MMRRC Submission 038530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0320 (G1)
Quality Score 170
Status Validated
Chromosome 3
Chromosomal Location 20011218-20063309 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20029012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003714] [ENSMUST00000091309] [ENSMUST00000108325] [ENSMUST00000108328] [ENSMUST00000108329]
AlphaFold Q61147
Predicted Effect probably benign
Transcript: ENSMUST00000003714
SMART Domains Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000091309
SMART Domains Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000108325
SMART Domains Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000108328
SMART Domains Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000108329
SMART Domains Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617

DomainStartEndE-ValueType
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: ENSMUST00000125994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174803
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 100% (71/71)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,571 (GRCm39) T465A probably benign Het
A430110L20Rik T G 1: 181,054,987 (GRCm39) noncoding transcript Het
Aadacl4fm1 A T 4: 144,248,990 (GRCm39) H119L probably damaging Het
Abcb10 C T 8: 124,689,746 (GRCm39) R439Q probably benign Het
Abcb8 T C 5: 24,605,788 (GRCm39) S199P probably damaging Het
Adam8 C A 7: 139,566,355 (GRCm39) C556F probably damaging Het
Akap11 T C 14: 78,750,819 (GRCm39) T523A probably benign Het
Aldh3b1 T C 19: 3,968,999 (GRCm39) probably benign Het
Arhgap30 T A 1: 171,231,372 (GRCm39) W230R possibly damaging Het
Atp8b4 A G 2: 126,301,614 (GRCm39) I82T possibly damaging Het
Bptf A T 11: 106,963,645 (GRCm39) L1850I probably damaging Het
C4b C A 17: 34,952,135 (GRCm39) V1237L probably benign Het
Calu C A 6: 29,374,550 (GRCm39) probably benign Het
Cit C A 5: 116,117,504 (GRCm39) L1227M possibly damaging Het
Col4a1 C T 8: 11,292,782 (GRCm39) probably null Het
Cpd T C 11: 76,731,273 (GRCm39) D311G possibly damaging Het
Ctc1 T A 11: 68,924,363 (GRCm39) S972T probably damaging Het
Dnah17 A G 11: 117,943,500 (GRCm39) F3201L possibly damaging Het
Dop1b C A 16: 93,607,035 (GRCm39) R2113S probably benign Het
Dym T A 18: 75,332,333 (GRCm39) D520E probably damaging Het
Eif5a G T 11: 69,808,305 (GRCm39) T64K probably benign Het
Flt3 A T 5: 147,306,389 (GRCm39) probably benign Het
Ints6 A T 14: 62,945,084 (GRCm39) Y415* probably null Het
Itga1 A G 13: 115,114,130 (GRCm39) probably benign Het
Itgae A G 11: 73,021,825 (GRCm39) H902R possibly damaging Het
Itprid1 T C 6: 55,953,432 (GRCm39) I916T probably damaging Het
Kdm5a T C 6: 120,366,581 (GRCm39) I406T probably benign Het
Lmx1a C T 1: 167,618,973 (GRCm39) Q111* probably null Het
Lrrc25 T C 8: 71,070,896 (GRCm39) Y226H probably benign Het
Mcam T A 9: 44,051,483 (GRCm39) N447K possibly damaging Het
Mcm10 A T 2: 5,008,897 (GRCm39) D357E probably benign Het
Nrip1 T C 16: 76,089,251 (GRCm39) T769A probably benign Het
Ofcc1 G C 13: 40,360,172 (GRCm39) Q286E probably benign Het
Or1e23 T G 11: 73,407,750 (GRCm39) I92L probably damaging Het
Or56b35 A T 7: 104,963,861 (GRCm39) I217F probably benign Het
Parp3 T A 9: 106,353,011 (GRCm39) N55I possibly damaging Het
Parp4 T C 14: 56,825,953 (GRCm39) probably null Het
Pilrb1 G A 5: 137,853,260 (GRCm39) T181I probably benign Het
Ppm1n A G 7: 19,012,281 (GRCm39) V317A probably damaging Het
Prdm2 A T 4: 142,905,921 (GRCm39) F55L probably damaging Het
Psd2 C T 18: 36,112,697 (GRCm39) R131C probably damaging Het
Ralgps1 A T 2: 33,031,027 (GRCm39) C570S possibly damaging Het
Scaf8 T C 17: 3,228,530 (GRCm39) S443P unknown Het
Setd5 A G 6: 113,088,442 (GRCm39) K190R probably damaging Het
Spsb4 T A 9: 96,878,161 (GRCm39) H54L probably damaging Het
St7l T A 3: 104,778,229 (GRCm39) L122* probably null Het
Stom C T 2: 35,211,646 (GRCm39) R125H probably damaging Het
Tigd4 T A 3: 84,502,481 (GRCm39) V466E probably benign Het
Tmc3 A C 7: 83,257,027 (GRCm39) probably benign Het
Vcl C T 14: 21,035,692 (GRCm39) probably benign Het
Vmn1r168 G A 7: 23,240,767 (GRCm39) R208H probably benign Het
Vmn2r75 C A 7: 85,814,288 (GRCm39) V402L probably benign Het
Vps13b A T 15: 35,674,974 (GRCm39) H1698L probably damaging Het
Wnt16 T G 6: 22,297,992 (GRCm39) V286G possibly damaging Het
Xirp1 C A 9: 119,845,533 (GRCm39) V1117L probably benign Het
Zfp788 C T 7: 41,298,971 (GRCm39) H536Y probably damaging Het
Other mutations in Cp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4413: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'- CAGGTACTGTTGCACCTGACAGAAG -3'
(R):5'- CCCATCAGCAAGTAAGCTGCCTTTC -3'

Sequencing Primer
(F):5'- CAATTCTAGGCAGACATTTGGCG -3'
(R):5'- GTAAGCTGCCTTTCTTGCATATTTTC -3'
Posted On 2013-05-23