Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Cp'

59686

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19957054-20009145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19971082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 402 (S402G)

Ref Sequence

ENSEMBL: ENSMUSP00000103965 (fasta)

Gene Model

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

AlphaFold

Q61147

Predicted Effect

probably null
Transcript: ENSMUST00000003714
AA Change: S402G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: S402G

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 null
Transcript: ENSMUST00000091309
AA Change: S402G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: S402G

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 null
Transcript: ENSMUST00000108325
AA Change: S402G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: S402G

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 null
Transcript: ENSMUST00000108328
AA Change: S402G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: S402G

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 null
Transcript: ENSMUST00000108329
AA Change: S402G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: S402G

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

0.2440

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc109b	T	C	3: 129,918,726	M167V	probably benign	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Cp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cp	APN	3	19985662	missense	possibly damaging	0.95
IGL00923:Cp	APN	3	19970001	missense	probably damaging	1.00
IGL01302:Cp	APN	3	19966367	missense	probably damaging	0.99
IGL01407:Cp	APN	3	19977205	missense	possibly damaging	0.79
IGL01505:Cp	APN	3	19977192	missense	possibly damaging	0.83
IGL01677:Cp	APN	3	19966434	missense	probably damaging	1.00
IGL02013:Cp	APN	3	19988049	missense	probably damaging	1.00
IGL02114:Cp	APN	3	19966347	missense	probably benign	0.16
IGL02950:Cp	APN	3	19988001	missense	probably damaging	0.99
IGL03330:Cp	APN	3	19966435	missense	probably damaging	1.00
iron10	UTSW	3	19989148	unclassified	probably benign
R0008:Cp	UTSW	3	19968123	missense	probably damaging	1.00
R0008:Cp	UTSW	3	19968123	missense	probably damaging	1.00
R0320:Cp	UTSW	3	19974848	splice site	probably benign
R1103:Cp	UTSW	3	19981985	missense	possibly damaging	0.82
R1137:Cp	UTSW	3	19978952	missense	probably benign	0.04
R1199:Cp	UTSW	3	19977152	missense	probably damaging	1.00
R1523:Cp	UTSW	3	19989065	missense	probably benign	0.00
R1629:Cp	UTSW	3	19966450	critical splice donor site	probably null
R1678:Cp	UTSW	3	19972717	missense	probably damaging	0.99
R1733:Cp	UTSW	3	19968219	splice site	probably benign
R1779:Cp	UTSW	3	19957385	missense	possibly damaging	0.91
R1816:Cp	UTSW	3	19968220	splice site	probably benign
R1990:Cp	UTSW	3	19979013	missense	probably damaging	1.00
R2014:Cp	UTSW	3	19987434	missense	probably benign	0.00
R2179:Cp	UTSW	3	19987987	missense	probably damaging	1.00
R2249:Cp	UTSW	3	19987570	missense	probably damaging	1.00
R3440:Cp	UTSW	3	19974957	missense	probably benign	0.02
R3441:Cp	UTSW	3	19974957	missense	probably benign	0.02
R3886:Cp	UTSW	3	19989111	missense	probably damaging	1.00
R3937:Cp	UTSW	3	19971034	missense	probably damaging	1.00
R4387:Cp	UTSW	3	19977202	missense	probably damaging	1.00
R4412:Cp	UTSW	3	19966353	missense	probably damaging	1.00
R4413:Cp	UTSW	3	19966353	missense	probably damaging	1.00
R4514:Cp	UTSW	3	19988013	missense	probably damaging	0.99
R4578:Cp	UTSW	3	19973888	missense	probably damaging	1.00
R4579:Cp	UTSW	3	19957435	splice site	probably null
R4694:Cp	UTSW	3	19974885	missense	probably benign	0.07
R4724:Cp	UTSW	3	19972647	missense	probably benign	0.02
R4910:Cp	UTSW	3	19989224	unclassified	probably benign
R4960:Cp	UTSW	3	19973797	missense	probably damaging	0.96
R5043:Cp	UTSW	3	19973917	missense	probably benign	0.00
R5063:Cp	UTSW	3	19989215	missense	probably benign	0.27
R5294:Cp	UTSW	3	19966316	missense	probably benign	0.00
R5382:Cp	UTSW	3	19978925	missense	probably damaging	1.00
R5404:Cp	UTSW	3	19989128	missense	possibly damaging	0.92
R5569:Cp	UTSW	3	19978877	missense	probably damaging	1.00
R5789:Cp	UTSW	3	19957290	missense	probably benign
R5943:Cp	UTSW	3	19964306	missense	probably benign	0.11
R6492:Cp	UTSW	3	19982022	missense	probably benign	0.20
R6540:Cp	UTSW	3	19964529	critical splice donor site	probably null
R7007:Cp	UTSW	3	19969973	missense	probably damaging	0.97
R7126:Cp	UTSW	3	19980624	missense	probably damaging	1.00
R7136:Cp	UTSW	3	19985658	nonsense	probably null
R7212:Cp	UTSW	3	19974966	missense	probably damaging	1.00
R7269:Cp	UTSW	3	19983477	missense	probably damaging	1.00
R7316:Cp	UTSW	3	19972752	missense	probably damaging	1.00
R7336:Cp	UTSW	3	19964532	splice site	probably null
R7361:Cp	UTSW	3	19964306	missense	probably benign	0.11
R7578:Cp	UTSW	3	19989098	missense	possibly damaging	0.65
R7593:Cp	UTSW	3	19966330	missense	probably benign	0.00
R7782:Cp	UTSW	3	19975059	critical splice donor site	probably null
R7858:Cp	UTSW	3	19971055	missense	probably benign	0.05
R8246:Cp	UTSW	3	19975022	missense	probably damaging	1.00
R8247:Cp	UTSW	3	19966406	missense	possibly damaging	0.84
R8300:Cp	UTSW	3	19957221	start gained	probably benign
R8507:Cp	UTSW	3	19971029	missense	probably damaging	1.00
R8756:Cp	UTSW	3	20005572	critical splice donor site	probably null
R8826:Cp	UTSW	3	19985575	missense	probably damaging	1.00
R8875:Cp	UTSW	3	19973830	missense	possibly damaging	0.94
R9018:Cp	UTSW	3	19989152	missense	probably damaging	1.00
R9072:Cp	UTSW	3	19978994	missense	possibly damaging	0.91
R9111:Cp	UTSW	3	19973785	missense	probably damaging	1.00
R9439:Cp	UTSW	3	19992507	critical splice acceptor site	probably null
R9443:Cp	UTSW	3	19978919	missense	possibly damaging	0.84
R9460:Cp	UTSW	3	19964402	missense
R9733:Cp	UTSW	3	19978962	missense	probably damaging	1.00
R9748:Cp	UTSW	3	19989171	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GGTTCGTGACTGTAACAAGCCCTC -3'
(R):5'- AGGCAAGTATTCTGTGAAGCAGTAGTG -3'

Sequencing Primer
(F):5'- TCGCCAGAGGATAATATCCAAG -3'
(R):5'- atagagagggaaggggaagg -3'

Posted On

2013-07-11