Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Cp'

8190

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0008 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20011218-20063309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20022287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 230 (Y230N)

Ref Sequence

ENSEMBL: ENSMUSP00000103965 (fasta)

Gene Model

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

AlphaFold

Q61147

Predicted Effect

probably damaging
Transcript: ENSMUST00000003714
AA Change: Y230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: Y230N

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 damaging
Transcript: ENSMUST00000091309
AA Change: Y230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: Y230N

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 damaging
Transcript: ENSMUST00000108325
AA Change: Y230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: Y230N

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 damaging
Transcript: ENSMUST00000108328
AA Change: Y230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: Y230N

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 damaging
Transcript: ENSMUST00000108329
AA Change: Y230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: Y230N

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: ENSMUST00000128615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150264

Meta Mutation Damage Score

0.7631

Coding Region Coverage

1x: 81.0%
3x: 72.4%
10x: 49.2%
20x: 28.4%

Validation Efficiency

90% (82/91)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,882,346 (GRCm39)	K118R	possibly damaging	Het
Afap1l1	A	G	18: 61,889,976 (GRCm39)	S87P	probably benign	Het
Ankrd27	A	G	7: 35,303,125 (GRCm39)	K196R	probably benign	Het
Arrdc3	T	A	13: 81,039,194 (GRCm39)	I75N	probably damaging	Het
Calcrl	T	C	2: 84,203,618 (GRCm39)	D54G	probably benign	Het
Cnot1	G	T	8: 96,487,969 (GRCm39)	D562E	probably damaging	Het
Dclre1c	T	C	2: 3,439,032 (GRCm39)	V64A	probably damaging	Het
Fat2	A	T	11: 55,202,075 (GRCm39)	L333H	probably damaging	Het
Hoxc11	T	C	15: 102,863,397 (GRCm39)	V146A	probably damaging	Het
Il11	T	C	7: 4,776,658 (GRCm39)	S111G	probably benign	Het
Ist1	A	T	8: 110,403,418 (GRCm39)	I273K	probably benign	Het
Lrp2	T	A	2: 69,346,895 (GRCm39)	N784Y	probably benign	Het
Lrp6	T	C	6: 134,462,716 (GRCm39)	E648G	probably damaging	Het
Mtbp	T	A	15: 55,449,889 (GRCm39)		probably benign	Het
Nat9	A	T	11: 115,075,941 (GRCm39)	Y27N	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112 (GRCm39)	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,449,274 (GRCm39)	H852L	probably benign	Het
Pax9	A	G	12: 56,756,528 (GRCm39)	T289A	probably benign	Het
Pcyt2	A	T	11: 120,506,695 (GRCm39)	I53N	possibly damaging	Het
Pdzph1	T	A	17: 59,229,756 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,704 (GRCm39)		probably benign	Het
Ppt1	T	C	4: 122,742,216 (GRCm39)		probably benign	Het
Prep	T	C	10: 44,991,174 (GRCm39)	V280A	probably benign	Het
Proser3	G	A	7: 30,239,563 (GRCm39)	R514C	probably damaging	Het
Rbm45	T	C	2: 76,208,742 (GRCm39)	Y293H	probably damaging	Het
Sdk2	A	G	11: 113,747,581 (GRCm39)	L643P	probably damaging	Het
Slc1a1	G	A	19: 28,878,884 (GRCm39)	G208S	probably benign	Het
Slc35b4	A	T	6: 34,135,452 (GRCm39)	Y287N	probably damaging	Het
Srgap2	T	C	1: 131,283,302 (GRCm39)	T260A	probably damaging	Het
Taf5	A	G	19: 47,064,301 (GRCm39)	S415G	possibly damaging	Het
Tdp2	T	G	13: 25,025,333 (GRCm39)		probably null	Het
Tnrc6a	G	A	7: 122,769,617 (GRCm39)	R469H	probably benign	Het
Tox	T	A	4: 6,842,411 (GRCm39)	M40L	probably benign	Het
Trib2	A	T	12: 15,859,930 (GRCm39)	H110Q	probably benign	Het
Trpa1	A	G	1: 14,973,439 (GRCm39)	I293T	possibly damaging	Het
Wdr93	A	G	7: 79,408,221 (GRCm39)	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,246,291 (GRCm39)	S245R	probably benign	Het
Zfyve9	T	A	4: 108,575,902 (GRCm39)	E393V	possibly 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
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
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

Posted On

2012-11-20