Incidental Mutation 'R8300:Cp'
ID 639181
Institutional Source Beutler Lab
Gene Symbol Cp
Ensembl Gene ENSMUSG00000003617
Gene Name ceruloplasmin
Synonyms D3Ertd555e
MMRRC Submission 067788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8300 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 20011218-20063309 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 20011385 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A G 9: 21,437,561 (GRCm39) M1V probably null Het
Abca12 T A 1: 71,353,123 (GRCm39) N773I possibly damaging Het
Adh7 A G 3: 137,929,825 (GRCm39) E167G probably damaging Het
Ank2 T A 3: 126,804,555 (GRCm39) D622V Het
Asf1b T A 8: 84,695,805 (GRCm39) F149I possibly damaging Het
Bach1 T C 16: 87,515,996 (GRCm39) V179A probably benign Het
C1ra C T 6: 124,498,597 (GRCm39) A430V probably benign Het
Cacna1c T A 6: 118,575,717 (GRCm39) Q1944L Het
Camkk1 T C 11: 72,918,266 (GRCm39) V158A probably benign Het
Ccdc152 T C 15: 3,327,634 (GRCm39) T48A probably benign Het
Cd180 A T 13: 102,841,301 (GRCm39) M116L probably benign Het
Clca3a2 C T 3: 144,804,692 (GRCm39) G12R probably benign Het
Coq8b T C 7: 26,941,671 (GRCm39) V252A possibly damaging Het
Ctsj A T 13: 61,150,285 (GRCm39) V238E probably damaging Het
Ctsj C T 13: 61,150,286 (GRCm39) V238I probably damaging Het
Cxcr2 A T 1: 74,198,333 (GRCm39) M276L probably benign Het
Drd5 T C 5: 38,477,672 (GRCm39) S222P probably damaging Het
Egflam T C 15: 7,283,932 (GRCm39) D269G possibly damaging Het
Fbn2 C T 18: 58,342,687 (GRCm39) R64Q probably benign Het
Fyb2 A T 4: 104,857,689 (GRCm39) K622M probably damaging Het
Gm10220 T C 5: 26,322,818 (GRCm39) E198G probably damaging Het
Gm1527 A T 3: 28,980,744 (GRCm39) N615Y possibly damaging Het
Gpatch3 A G 4: 133,307,140 (GRCm39) H308R probably damaging Het
Gsdmc4 A G 15: 63,766,790 (GRCm39) I261T probably damaging Het
Gsg1 T G 6: 135,214,580 (GRCm39) T310P probably benign Het
Hecw2 T C 1: 53,926,775 (GRCm39) S1075G probably null Het
Hyal6 A G 6: 24,734,087 (GRCm39) T7A probably benign Het
Ighv1-59 T G 12: 115,298,987 (GRCm39) Q22H probably damaging Het
Lyst T A 13: 13,838,643 (GRCm39) M1853K possibly damaging Het
Maco1 A G 4: 134,555,762 (GRCm39) I237T probably benign Het
Mccc1 A T 3: 36,017,753 (GRCm39) M649K probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nek4 A G 14: 30,692,352 (GRCm39) D399G Het
Obscn T C 11: 58,933,896 (GRCm39) K5323E probably benign Het
Or6p1 T A 1: 174,258,100 (GRCm39) Y35* probably null Het
Paics T C 5: 77,109,253 (GRCm39) V196A probably damaging Het
Pced1a C A 2: 130,266,157 (GRCm39) probably benign Het
Pierce1 A T 2: 28,352,435 (GRCm39) Y109* probably null Het
Pik3cb A G 9: 98,928,711 (GRCm39) V848A probably damaging Het
Ppm1h T A 10: 122,618,118 (GRCm39) N92K probably damaging Het
Ppp1r16b T A 2: 158,588,571 (GRCm39) I152N probably damaging Het
Pramel7 A G 2: 87,319,967 (GRCm39) M442T probably benign Het
Prex2 A T 1: 11,301,942 (GRCm39) N1415I possibly damaging Het
Pum3 T C 19: 27,399,773 (GRCm39) K220R probably benign Het
Qrich2 G T 11: 116,347,175 (GRCm39) D1216E probably benign Het
Rbbp8 T A 18: 11,838,833 (GRCm39) silent Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rimbp2 C T 5: 128,874,835 (GRCm39) R252Q probably damaging Het
Rnpep T C 1: 135,211,397 (GRCm39) H117R probably benign Het
Serpinb10 A G 1: 107,474,456 (GRCm39) D206G probably benign Het
Sh3tc1 C T 5: 35,854,792 (GRCm39) V1302M probably benign Het
Slmap T C 14: 26,139,374 (GRCm39) E780G possibly damaging Het
Snrpg T A 6: 86,353,558 (GRCm39) V46E probably damaging Het
Spef1l A T 7: 139,557,091 (GRCm39) I98N probably damaging Het
Sptbn5 T A 2: 119,878,058 (GRCm39) Q953L noncoding transcript Het
Stard9 C T 2: 120,535,250 (GRCm39) L3836F possibly damaging Het
Tcerg1 T A 18: 42,683,137 (GRCm39) M619K probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf9 C T 4: 151,017,556 (GRCm39) T137M probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trak1 G T 9: 121,289,565 (GRCm39) E626* probably null Het
Trio G T 15: 27,855,108 (GRCm39) H750Q possibly damaging Het
U2af2 T C 7: 5,070,414 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,182,347 (GRCm39) I451V probably benign Het
Zfp930 A T 8: 69,680,998 (GRCm39) N230I 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
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
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'- GCAGAATTGCGCATGCTGTG -3'
(R):5'- GTTTCTTTTCTTCAGTGCCAGAAG -3'

Sequencing Primer
(F):5'- GCTGTGCATGTCCAACAC -3'
(R):5'- GCATAGTCCCAGACTGCTTCAG -3'
Posted On 2020-07-28