Mutagenetix > Incidental Mutation

Incidental Mutation 'R3441:Cp'

267371

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

040659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20011218-20063309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20029121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 533 (M533L)

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: M532L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: M532L

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: M533L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: M533L

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: M532L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: M532L

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: M532L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: M532L

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: M533L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: M533L

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: ENSMUST00000150264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174803

Meta Mutation Damage Score

0.0737

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (34/35)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Ap5b1	A	G	19: 5,620,011 (GRCm39)	H477R	probably benign	Het
Asz1	A	C	6: 18,108,405 (GRCm39)	S68A	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Btnl6	T	C	17: 34,727,292 (GRCm39)	K413E	probably benign	Het
Cav3	G	A	6: 112,449,402 (GRCm39)	C140Y	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap91	T	C	16: 38,154,168 (GRCm39)	M126V	probably benign	Het
Clrn3	A	C	7: 135,115,854 (GRCm39)	Y165*	probably null	Het
Cyba	C	T	8: 123,151,803 (GRCm39)	W103*	probably null	Het
Epha4	G	T	1: 77,403,333 (GRCm39)	N95K	possibly damaging	Het
Fsip2	A	G	2: 82,817,071 (GRCm39)	N4268S	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gtf3c6	T	A	10: 40,127,169 (GRCm39)	E123V	probably null	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Hyal6	C	T	6: 24,734,592 (GRCm39)	A175V	probably benign	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Krtap24-1	T	C	16: 88,408,713 (GRCm39)	T138A	probably damaging	Het
Mrc2	A	T	11: 105,238,542 (GRCm39)	T1230S	possibly damaging	Het
Mx1	T	A	16: 97,257,431 (GRCm39)	I109F	probably damaging	Het
Nav3	A	G	10: 109,540,789 (GRCm39)	F1947S	probably benign	Het
Or12e1	A	G	2: 87,022,162 (GRCm39)	I44V	probably benign	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Plxnc1	G	A	10: 94,706,872 (GRCm39)	T555I	probably benign	Het
Rab21	CCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCC	10: 115,151,214 (GRCm39)		probably benign	Het
Rag2	T	A	2: 101,460,645 (GRCm39)	F318L	probably damaging	Het
Scgb2b24	G	T	7: 33,438,025 (GRCm39)	F27L	probably damaging	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Teddm1b	A	G	1: 153,751,007 (GRCm39)	E272G	probably benign	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Tfpi2	A	T	6: 3,965,504 (GRCm39)	Y103N	probably benign	Het
Tmem98	A	G	11: 80,705,125 (GRCm39)	N71S	probably damaging	Het
Vmn1r181	A	G	7: 23,684,308 (GRCm39)	I258V	probably benign	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
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
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'- TGGCTCAGTAGTCACATTTGAAAG -3'
(R):5'- GCAATTCCTGATGCACTTGAG -3'

Sequencing Primer
(F):5'- AGCACATACATAACCTCTCTGTTGTG -3'
(R):5'- GTTGGGAATCTCAAGTGTACATCAC -3'

Posted On

2015-02-18