Incidental Mutation 'R7593:Cp'
ID 587502
Institutional Source Beutler Lab
Gene Symbol Cp
Ensembl Gene ENSMUSG00000003617
Gene Name ceruloplasmin
Synonyms D3Ertd555e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7593 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 20011218-20063309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20020494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 162 (N162K)
Ref Sequence ENSEMBL: ENSMUSP00000088857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003714] [ENSMUST00000091309] [ENSMUST00000108325] [ENSMUST00000108328] [ENSMUST00000108329]
AlphaFold Q61147
Predicted Effect probably benign
Transcript: ENSMUST00000003714
AA Change: N162K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: N162K

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: N162K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: N162K

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: N162K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: N162K

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: N162K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: N162K

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: N162K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: N162K

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,774 (GRCm39) A170V probably damaging Het
Acp6 A T 3: 97,073,266 (GRCm39) E102D probably benign Het
Acss1 T A 2: 150,461,688 (GRCm39) R632* probably null Het
Adamtsl1 G T 4: 86,259,450 (GRCm39) C832F probably damaging Het
Adgrg6 T G 10: 14,344,573 (GRCm39) M127L probably damaging Het
Alkbh1 A T 12: 87,487,095 (GRCm39) Y91* probably null Het
Arhgap35 A T 7: 16,298,786 (GRCm39) I93N probably damaging Het
Asic2 A T 11: 81,858,657 (GRCm39) D118E probably benign Het
Asprv1 G T 6: 86,605,762 (GRCm39) V203L probably damaging Het
Atad2b G A 12: 5,081,726 (GRCm39) D1212N probably benign Het
Atp4a A G 7: 30,424,105 (GRCm39) I960V probably benign Het
Bin1 G T 18: 32,552,932 (GRCm39) E186* probably null Het
Bmp10 A G 6: 87,410,651 (GRCm39) Y148C probably damaging Het
Ccdc152 T A 15: 3,310,137 (GRCm39) D246V probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cdh9 A T 15: 16,823,261 (GRCm39) D81V probably damaging Het
Cep162 A T 9: 87,086,250 (GRCm39) S1025T probably benign Het
Cidea A G 18: 67,493,283 (GRCm39) I101V probably benign Het
Clock G A 5: 76,384,145 (GRCm39) S478L possibly damaging Het
Crb1 C T 1: 139,164,978 (GRCm39) E1110K probably damaging Het
Cyp2b13 A T 7: 25,780,416 (GRCm39) I146L possibly damaging Het
D630045J12Rik A G 6: 38,172,429 (GRCm39) S580P possibly damaging Het
Dars2 T C 1: 160,885,113 (GRCm39) E224G probably damaging Het
Dcbld2 A G 16: 58,244,941 (GRCm39) T72A possibly damaging Het
Ddx11 A T 17: 66,433,193 (GRCm39) I8F possibly damaging Het
Dennd2d T C 3: 106,407,244 (GRCm39) F432L probably damaging Het
Dnah10 T C 5: 124,823,608 (GRCm39) V543A probably benign Het
Eef2k G A 7: 120,488,491 (GRCm39) probably null Het
Elmo1 A G 13: 20,474,610 (GRCm39) M345V probably benign Het
Ephb4 A G 5: 137,359,560 (GRCm39) M377V probably benign Het
Erbb4 C A 1: 68,293,758 (GRCm39) R711L probably damaging Het
Fads1 A G 19: 10,162,361 (GRCm39) E95G probably damaging Het
Farsa G A 8: 85,594,278 (GRCm39) probably null Het
Galntl6 A G 8: 58,230,293 (GRCm39) S42P probably damaging Het
Gga2 G A 7: 121,589,672 (GRCm39) T559M probably benign Het
Glipr1l2 G A 10: 111,928,465 (GRCm39) G120D probably damaging Het
Gm14226 A T 2: 154,866,114 (GRCm39) I24L unknown Het
Gprc5b G T 7: 118,583,492 (GRCm39) R126S probably damaging Het
Gys1 A G 7: 45,092,360 (GRCm39) D321G probably damaging Het
Hdlbp C T 1: 93,358,005 (GRCm39) A299T probably benign Het
Hic2 A G 16: 17,076,979 (GRCm39) T603A probably damaging Het
Hoxa11 A T 6: 52,220,524 (GRCm39) I253N probably damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Inpp5d T A 1: 87,645,500 (GRCm39) S1023T possibly damaging Het
Kif21a C T 15: 90,828,064 (GRCm39) A1233T probably benign Het
Kif9 A T 9: 110,350,421 (GRCm39) T771S possibly damaging Het
Klre1 T A 6: 129,560,150 (GRCm39) C141S probably damaging Het
Lats1 A G 10: 7,577,476 (GRCm39) Y200C probably damaging Het
Lgr4 T A 2: 109,829,801 (GRCm39) L247H probably damaging Het
Lrrc37a T C 11: 103,391,778 (GRCm39) K1216E probably benign Het
Lrrc41 G A 4: 115,950,141 (GRCm39) R518H possibly damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Mcm9 C T 10: 53,506,088 (GRCm39) R62H probably benign Het
Mmp10 T G 9: 7,503,154 (GRCm39) L38R probably damaging Het
Mroh8 A G 2: 157,071,867 (GRCm39) L546P probably damaging Het
Mtcl2 A T 2: 156,882,776 (GRCm39) D425E probably benign Het
Myt1 T A 2: 181,439,532 (GRCm39) D393E possibly damaging Het
Mzb1 A T 18: 35,780,901 (GRCm39) I129N probably damaging Het
Nek10 A G 14: 14,826,955 (GRCm38) D51G probably benign Het
Nme5 A G 18: 34,700,201 (GRCm39) I148T probably benign Het
Nr2e1 G A 10: 42,439,475 (GRCm39) P348L probably damaging Het
Nrp2 A G 1: 62,758,203 (GRCm39) E63G probably damaging Het
Or2d2 A T 7: 106,727,782 (GRCm39) S273T probably damaging Het
Or51ab3 A T 7: 103,200,956 (GRCm39) probably benign Het
Or52e3 A G 7: 102,869,471 (GRCm39) E182G probably damaging Het
Or52e5 A G 7: 104,718,704 (GRCm39) H10R probably benign Het
Or56a3 A G 7: 104,735,372 (GRCm39) T150A probably benign Het
Pak5 A G 2: 135,942,884 (GRCm39) S419P probably benign Het
Pfas C A 11: 68,881,921 (GRCm39) M25I Het
Prdm9 A G 17: 15,764,867 (GRCm39) S638P possibly damaging Het
Psd G A 19: 46,301,352 (GRCm39) T954I possibly damaging Het
Psph T C 5: 129,864,337 (GRCm39) probably benign Het
Ptprf A G 4: 118,069,593 (GRCm39) I1517T probably benign Het
Rassf8 A G 6: 145,761,129 (GRCm39) R152G probably benign Het
Rfx3 G A 19: 27,827,139 (GRCm39) T149I probably benign Het
Rfx8 A T 1: 39,722,838 (GRCm39) F260I probably damaging Het
Rnft1 C T 11: 86,384,023 (GRCm39) Q308* probably null Het
Rock2 A G 12: 17,008,241 (GRCm39) N528S probably benign Het
Rpp25l T C 4: 41,712,305 (GRCm39) R157G unknown Het
Ryr1 A T 7: 28,735,528 (GRCm39) N4083K probably damaging Het
Scd1 G T 19: 44,388,739 (GRCm39) T237N probably benign Het
Sema3d T C 5: 12,558,112 (GRCm39) F215L probably benign Het
Sema7a C T 9: 57,867,858 (GRCm39) T478I probably benign Het
Sftpc T C 14: 70,759,623 (GRCm39) T99A possibly damaging Het
Slc25a4 G A 8: 46,662,241 (GRCm39) T139I probably damaging Het
Snx27 T C 3: 94,410,272 (GRCm39) E468G possibly damaging Het
Snx33 T C 9: 56,834,058 (GRCm39) K4E possibly damaging Het
Soat1 A T 1: 156,268,148 (GRCm39) L253* probably null Het
Sycp2l A T 13: 41,326,192 (GRCm39) N749I probably damaging Het
Synj2bp A T 12: 81,557,664 (GRCm39) I47N probably damaging Het
Tmem82 T A 4: 141,343,605 (GRCm39) I222F probably damaging Het
Ube2o A T 11: 116,471,905 (GRCm39) L112Q possibly damaging Het
Vmn1r204 G A 13: 22,740,754 (GRCm39) W128* probably null Het
Vmn2r114 A T 17: 23,510,817 (GRCm39) Y554* probably null Het
Vmn2r62 A T 7: 42,437,213 (GRCm39) Y424N possibly damaging Het
Vmn2r70 A T 7: 85,215,312 (GRCm39) L74* probably null Het
Vmp1 T A 11: 86,477,377 (GRCm39) Y341F probably benign Het
Vps13a A T 19: 16,703,027 (GRCm39) V642D probably damaging Het
Vps33a T C 5: 123,674,619 (GRCm39) M383V probably benign Het
Vwf G A 6: 125,624,731 (GRCm39) V1827I Het
Zc3hav1 A G 6: 38,306,121 (GRCm39) Y644H probably benign Het
Zfp429 A C 13: 67,538,410 (GRCm39) C345G probably damaging Het
Zfp595 T C 13: 67,464,823 (GRCm39) H483R probably benign Het
Zfp748 G T 13: 67,690,638 (GRCm39) H207Q probably benign Het
Zfp758 T C 17: 22,593,939 (GRCm39) S142P probably damaging Het
Znfx1 A C 2: 166,898,145 (GRCm39) S260A 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
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 2019-10-24