Mutagenetix > Incidental Mutation

Incidental Mutation 'R1137:Cp'

95120

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

039210-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20011218-20063309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20033116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 648 (A648S)

Ref Sequence

ENSEMBL: ENSMUSP00000103965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003714] [ENSMUST00000091309] [ENSMUST00000108325] [ENSMUST00000108328] [ENSMUST00000108329] [ENSMUST00000173848]

AlphaFold

Q61147

Predicted Effect

probably benign
Transcript: ENSMUST00000003714
AA Change: A647S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: A647S

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 benign
Transcript: ENSMUST00000091309
AA Change: A648S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: A648S

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 benign
Transcript: ENSMUST00000108325
AA Change: A647S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: A647S

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 benign
Transcript: ENSMUST00000108328
AA Change: A647S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: A647S

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 benign
Transcript: ENSMUST00000108329
AA Change: A648S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: A648S

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: ENSMUST00000125994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150264

Predicted Effect

probably benign
Transcript: ENSMUST00000173848

SMART Domains

Protein: ENSMUSP00000133676
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	16	93	1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172605

SMART Domains

Protein: ENSMUSP00000134347
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
PDB:1KCW\|A	2	58	2e-28	PDB
SCOP:d1kcw_5	22	58	4e-11	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,256 (GRCm39)	S54T	probably benign	Het
Ahdc1	A	G	4: 132,789,424 (GRCm39)	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Cep250	A	G	2: 155,832,760 (GRCm39)	K1561E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Clca4a	A	G	3: 144,676,446 (GRCm39)	V78A	probably damaging	Het
Clec4n	G	A	6: 123,223,526 (GRCm39)	M170I	possibly damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dnah8	A	G	17: 31,074,910 (GRCm39)	D4543G	probably damaging	Het
Elp3	A	G	14: 65,785,370 (GRCm39)	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,885,205 (GRCm39)	S245P	probably benign	Het
Fkbp9	G	T	6: 56,837,682 (GRCm39)	G312V	probably damaging	Het
Htr4	A	G	18: 62,570,624 (GRCm39)	I226M	probably damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Kif20b	T	C	19: 34,914,486 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,515,981 (GRCm39)	V2621F	possibly damaging	Het
Lif	A	G	11: 4,219,237 (GRCm39)	D172G	probably damaging	Het
Llgl1	C	A	11: 60,595,559 (GRCm39)	H82N	probably benign	Het
Lrwd1	T	C	5: 136,162,273 (GRCm39)	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511 (GRCm39)	I1078N	probably damaging	Het
Muc1	A	T	3: 89,137,745 (GRCm39)	T196S	probably benign	Het
Myh7b	T	C	2: 155,464,634 (GRCm39)	L657P	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,645,015 (GRCm39)	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697 (GRCm39)	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,149,595 (GRCm39)	T125A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,600,039 (GRCm39)	R125C	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tigit	G	T	16: 43,469,485 (GRCm39)	T202N	probably benign	Het
Tmem132b	C	T	5: 125,860,606 (GRCm39)	A617V	possibly damaging	Het
Tpm1	T	C	9: 66,938,400 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,768,659 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,852,422 (GRCm39)	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,300,221 (GRCm39)	N134H	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
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'- TCTGGGGACAGCAGAGGCATT -3'
(R):5'- cacaTCCTACTCCACCCATGTATAGGAA -3'

Sequencing Primer
(F):5'- AGGCTTAAATGTGTGCTTACATGAG -3'
(R):5'- ccaaatatactctttccccccc -3'

Posted On

2014-01-05