Mutagenetix > Incidental Mutation

Incidental Mutation 'R5043:Cp'

393284

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

042633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20011218-20063309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20028081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 496 (S496P)

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: S496P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: S496P

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: S496P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: S496P

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: S496P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: S496P

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: S496P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: S496P

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: S496P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: S496P

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: ENSMUST00000128615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174803

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,980,910 (GRCm39)	Y106*	probably null	Het
Acsbg3	A	G	17: 57,192,198 (GRCm39)	Y587C	probably damaging	Het
Akap12	G	C	10: 4,305,047 (GRCm39)	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,767,653 (GRCm39)	K32E	probably benign	Het
Capg	T	A	6: 72,535,237 (GRCm39)	Y253*	probably null	Het
Cntnap3	A	T	13: 64,942,162 (GRCm39)	F189L	probably damaging	Het
Cxcl11	T	C	5: 92,511,011 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,399,785 (GRCm39)	L217P	probably benign	Het
Dip2c	G	T	13: 9,601,863 (GRCm39)	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,606,147 (GRCm39)	S3776L	probably damaging	Het
Emcn	A	G	3: 137,097,362 (GRCm39)	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,400,174 (GRCm39)	Y397*	probably null	Het
Gabrp	T	C	11: 33,518,072 (GRCm39)	N79D	probably benign	Het
Glmp	T	G	3: 88,233,983 (GRCm39)		probably benign	Het
Gm5921	C	T	9: 115,267,087 (GRCm39)		noncoding transcript	Het
Gm6483	A	G	8: 19,743,686 (GRCm39)	T104A	probably benign	Het
Ifi206	A	T	1: 173,314,284 (GRCm39)	M52K	probably damaging	Het
Iqcc	T	C	4: 129,512,070 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,135 (GRCm39)	H288L	probably benign	Het
Myo5b	T	C	18: 74,771,224 (GRCm39)		probably null	Het
Nisch	A	G	14: 30,898,422 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,824 (GRCm39)	N575S	probably benign	Het
Or1n2	A	C	2: 36,796,977 (GRCm39)	R6S	probably benign	Het
Or8b49	A	G	9: 38,506,137 (GRCm39)	I207V	probably damaging	Het
Phlda1	T	A	10: 111,343,152 (GRCm39)	L296Q	unknown	Het
Pramel19	T	C	4: 101,797,721 (GRCm39)	F40L	possibly damaging	Het
Rab36	G	A	10: 74,886,837 (GRCm39)	E182K	probably benign	Het
Rasa3	G	A	8: 13,620,368 (GRCm39)	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,297,195 (GRCm39)	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,291,615 (GRCm39)	N221T	probably damaging	Het
Smg6	T	C	11: 74,820,721 (GRCm39)	S331P	possibly damaging	Het
Snx1	C	T	9: 66,004,718 (GRCm39)	A183T	probably benign	Het
Srpk2	T	C	5: 23,729,515 (GRCm39)	T375A	probably benign	Het
Tecpr1	T	C	5: 144,134,672 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,577,469 (GRCm39)	E126D	probably benign	Het
Ugt2b1	C	G	5: 87,065,503 (GRCm39)	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,399,719 (GRCm39)	W263*	probably null	Het
Utp20	A	T	10: 88,634,608 (GRCm39)	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,608,109 (GRCm39)	Y1257C	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
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
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'- TGAAGACAACTAATGCTCGCTTTG -3'
(R):5'- CTCTAATCTTAACATTGCAGGACC -3'

Sequencing Primer
(F):5'- AACTAATGCTCGCTTTGTCCCTAGG -3'
(R):5'- TTGCAGGACCTTAAAAACATTCAC -3'

Posted On

2016-06-15