Incidental Mutation 'R5789:Cp'
ID 448193
Institutional Source Beutler Lab
Gene Symbol Cp
Ensembl Gene ENSMUSG00000003617
Gene Name ceruloplasmin
Synonyms D3Ertd555e
MMRRC Submission 043383-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5789 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 20011218-20063309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20011454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 3 (F3I)
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
AA Change: F3I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: F3I

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
AA Change: F3I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: F3I

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
AA Change: F3I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: F3I

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
AA Change: F3I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: F3I

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
AA Change: F3I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: F3I

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: ENSMUST00000128615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131454
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,076,108 (GRCm39) F1200S probably damaging Het
Ahnak A T 19: 8,979,685 (GRCm39) D323V probably benign Het
Aloxe3 T C 11: 69,017,265 (GRCm39) Y13H probably damaging Het
Aqp1 A G 6: 55,313,746 (GRCm39) I91V probably benign Het
C9orf72 T A 4: 35,226,112 (GRCm39) probably benign Het
Carmil1 A G 13: 24,305,831 (GRCm39) S318P probably damaging Het
Cdan1 A G 2: 120,560,016 (GRCm39) F383L probably benign Het
Ciao3 T C 17: 26,000,177 (GRCm39) C303R probably benign Het
Col6a2 T A 10: 76,440,223 (GRCm39) E606V probably damaging Het
Col6a5 T C 9: 105,741,807 (GRCm39) T2371A possibly damaging Het
Cops3 T C 11: 59,721,106 (GRCm39) probably benign Het
Coq7 G T 7: 118,128,929 (GRCm39) H35Q possibly damaging Het
D630003M21Rik C T 2: 158,058,734 (GRCm39) E389K possibly damaging Het
Dclre1c A T 2: 3,438,993 (GRCm39) Q51L probably damaging Het
Dhx37 A C 5: 125,498,103 (GRCm39) I702S possibly damaging Het
Dnah3 G T 7: 119,542,822 (GRCm39) A3530D possibly damaging Het
Dnajc13 T C 9: 104,091,387 (GRCm39) R635G probably damaging Het
Dnhd1 A G 7: 105,354,217 (GRCm39) S3066G possibly damaging Het
Doc2b T A 11: 75,676,941 (GRCm39) H144L probably damaging Het
Eif2b3 T A 4: 116,885,692 (GRCm39) I78N probably damaging Het
Enpp1 A T 10: 24,523,137 (GRCm39) H767Q probably benign Het
Fam180a C A 6: 35,290,461 (GRCm39) *174L probably null Het
Gabra1 A T 11: 42,073,742 (GRCm39) probably benign Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm16551 T A 9: 74,756,535 (GRCm39) noncoding transcript Het
Ifi213 C A 1: 173,396,360 (GRCm39) probably benign Het
Inpp4a T C 1: 37,411,410 (GRCm39) V358A possibly damaging Het
Kmt2a T C 9: 44,731,201 (GRCm39) probably benign Het
Mrgprb13 A T 7: 47,961,946 (GRCm39) noncoding transcript Het
Mtrex A T 13: 113,027,819 (GRCm39) N680K probably benign Het
Nckap5 A G 1: 125,955,439 (GRCm39) F371S probably damaging Het
Nudcd1 G A 15: 44,251,879 (GRCm39) Q428* probably null Het
Pcdhgc5 C A 18: 37,954,559 (GRCm39) P611Q probably damaging Het
Plekhb1 A T 7: 100,294,793 (GRCm39) Y193* probably null Het
Prrt1 T C 17: 34,850,931 (GRCm39) probably null Het
Ptpn12 G A 5: 21,194,013 (GRCm39) T753I possibly damaging Het
Samsn1 T C 16: 75,673,336 (GRCm39) D180G probably damaging Het
Sh2d2a T A 3: 87,756,820 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,045,091 (GRCm39) probably null Het
Socs3 T A 11: 117,858,608 (GRCm39) Q150L probably benign Het
Supt6 A G 11: 78,124,412 (GRCm39) V23A unknown Het
Tcf12 T C 9: 71,792,518 (GRCm39) Y119C probably damaging Het
Them5 A G 3: 94,253,908 (GRCm39) E210G probably damaging Het
Tmem135 A G 7: 88,845,330 (GRCm39) F167S possibly damaging Het
Tmem170 A G 8: 112,593,032 (GRCm39) V134A possibly damaging Het
Trbv20 A G 6: 41,165,725 (GRCm39) Y50C probably damaging Het
Uroc1 A G 6: 90,321,179 (GRCm39) M252V probably damaging Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Xpnpep3 T A 15: 81,300,065 (GRCm39) probably benign Het
Yars1 C T 4: 129,090,690 (GRCm39) T78M probably damaging Het
Zdhhc16 T A 19: 41,926,572 (GRCm39) H98Q probably damaging Het
Zfp90 T C 8: 107,150,605 (GRCm39) L106P probably benign Het
Zscan22 T G 7: 12,637,853 (GRCm39) S82A probably benign 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
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
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
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'- TAGTTAGAGAAGCCTGGCCACAG -3'
(R):5'- GGTAACATGAATTTGGCCCATAAAG -3'

Sequencing Primer
(F):5'- AACTGTGTTTGTTTTGGTTTTTCCCC -3'
(R):5'- CCCAGACTGCTTCAGTAA -3'
Posted On 2016-12-15