Mutagenetix > Incidental Mutations

Incidental Mutation 'R5789:Cp'

448193

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

043383-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19957054-20009145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19957290 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 3 (F3I)

Ref Sequence

ENSEMBL: ENSMUSP00000103965 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000003714
AA Change: F3I

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

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: F3I

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: F3I

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

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: F3I

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: F3I

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

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: F3I

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: F3I

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

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: F3I

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: F3I

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

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: F3I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	T	A	4: 35,226,112		probably benign	Het
Abcb11	A	G	2: 69,245,764	F1200S	probably damaging	Het
Ahnak	A	T	19: 9,002,321	D323V	probably benign	Het
Aloxe3	T	C	11: 69,126,439	Y13H	probably damaging	Het
Aqp1	A	G	6: 55,336,761	I91V	probably benign	Het
Carmil1	A	G	13: 24,121,848	S318P	probably damaging	Het
Cdan1	A	G	2: 120,729,535	F383L	probably benign	Het
Col6a2	T	A	10: 76,604,389	E606V	probably damaging	Het
Col6a5	T	C	9: 105,864,608	T2371A	possibly damaging	Het
Cops3	T	C	11: 59,830,280		probably benign	Het
Coq7	G	T	7: 118,529,706	H35Q	possibly damaging	Het
D630003M21Rik	C	T	2: 158,216,814	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,437,956	Q51L	probably damaging	Het
Dhx37	A	C	5: 125,421,039	I702S	possibly damaging	Het
Dnah3	G	T	7: 119,943,599	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,214,188	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,705,010	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,786,115	H144L	probably damaging	Het
Eif2b3	T	A	4: 117,028,495	I78N	probably damaging	Het
Enpp1	A	T	10: 24,647,239	H767Q	probably benign	Het
Fam180a	C	A	6: 35,313,526	*174L	probably null	Het
Gabra1	A	T	11: 42,182,915		probably benign	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm16551	T	A	9: 74,849,253		noncoding transcript	Het
Ifi213	C	A	1: 173,568,794		probably benign	Het
Inpp4a	T	C	1: 37,372,329	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,819,904		probably benign	Het
Mrgprb13	A	T	7: 48,312,198		noncoding transcript	Het
Narfl	T	C	17: 25,781,203	C303R	probably benign	Het
Nckap5	A	G	1: 126,027,702	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,388,483	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,821,506	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,645,586	Y193*	probably null	Het
Prrt1	T	C	17: 34,631,957		probably null	Het
Ptpn12	G	A	5: 20,989,015	T753I	possibly damaging	Het
Samsn1	T	C	16: 75,876,448	D180G	probably damaging	Het
Sh2d2a	T	A	3: 87,849,513		probably benign	Het
Skiv2l2	A	T	13: 112,891,285	N680K	probably benign	Het
Slc12a2	T	A	18: 57,912,019		probably null	Het
Socs3	T	A	11: 117,967,782	Q150L	probably benign	Het
Supt6	A	G	11: 78,233,586	V23A	unknown	Het
Tcf12	T	C	9: 71,885,236	Y119C	probably damaging	Het
Them5	A	G	3: 94,346,601	E210G	probably damaging	Het
Tmem135	A	G	7: 89,196,122	F167S	possibly damaging	Het
Tmem170	A	G	8: 111,866,400	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,188,791	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,344,197	M252V	probably damaging	Het
Wasf1	G	A	10: 40,926,574	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,415,864		probably benign	Het
Yars	C	T	4: 129,196,897	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,938,133	H98Q	probably damaging	Het
Zfp90	T	C	8: 106,423,973	L106P	probably benign	Het
Zscan22	T	G	7: 12,903,926	S82A	probably benign	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
R0632:Cp	UTSW	3	19971082	missense	probably null	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTTAGAGAAGCCTGGCCACAG -3'
(R):5'- GGTAACATGAATTTGGCCCATAAAG -3'

Sequencing Primer
(F):5'- AACTGTGTTTGTTTTGGTTTTTCCCC -3'
(R):5'- CCCAGACTGCTTCAGTAA -3'

Posted On

2016-12-15