Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Cp'

580616

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19957054-20009145 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 19964532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617

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

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617

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

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617

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

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617

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

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,388,233	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,571,650	Q180E	probably benign	Het
Adamts8	A	G	9: 30,962,067	D856G	probably benign	Het
Agrn	A	T	4: 156,174,914	C828*	probably null	Het
Ankub1	T	C	3: 57,665,687	T205A	probably benign	Het
Atm	A	T	9: 53,462,503	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,909,843	F257L	probably benign	Het
Bcat2	T	A	7: 45,575,485	C27S	probably benign	Het
Bod1l	G	A	5: 41,821,524	R816C	probably damaging	Het
Btg3	A	G	16: 78,364,807	Y172H	probably benign	Het
C130079G13Rik	G	A	3: 59,932,753		probably null	Het
Cacna1d	T	C	14: 30,045,282	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,706,601	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,303,112	V646A	probably benign	Het
Ccp110	C	T	7: 118,722,210	P363S	probably damaging	Het
Cct4	C	A	11: 23,001,564	T377K	possibly damaging	Het
Cep350	T	A	1: 155,862,276	H2607L	probably benign	Het
Cfap46	A	G	7: 139,620,104	F1954L	unknown	Het
Chat	C	T	14: 32,423,256		probably null	Het
Clasp2	A	G	9: 113,876,353		probably null	Het
Cldn9	T	C	17: 23,683,015	D212G	probably benign	Het
Cyfip1	T	A	7: 55,926,400	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,797,734	D4060G	probably damaging	Het
Dpyd	A	G	3: 119,064,921	T595A	probably damaging	Het
Eps8	G	A	6: 137,509,213	R434C	possibly damaging	Het
Fasl	A	G	1: 161,787,988	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,849,727	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,473,214	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,914,357	N102S	probably damaging	Het
Gm2381	T	C	7: 42,822,380	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,187,345	K269N	probably damaging	Het
Icosl	C	A	10: 78,073,873	Y217*	probably null	Het
Il17rd	G	T	14: 27,087,546	R153L	probably benign	Het
Kif17	C	A	4: 138,298,306	T973K	possibly damaging	Het
Klk1b16	A	G	7: 44,141,483	I236M	probably benign	Het
Lgmn	G	A	12: 102,423,739		probably benign	Het
Lmbr1l	T	C	15: 98,913,587	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,677,191	I196N	possibly damaging	Het
Maml1	C	T	11: 50,266,449	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,533,817	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,713,839	T69A	probably benign	Het
Mlph	G	A	1: 90,921,983		probably null	Het
Myh1	A	T	11: 67,220,609	M1625L	probably benign	Het
Myh3	G	T	11: 67,091,021	R781L	probably benign	Het
Nckap5	A	T	1: 126,026,049	I922K	probably benign	Het
Nlrp5	T	A	7: 23,417,634	M261K	probably damaging	Het
Olfr1317	A	T	2: 112,142,169	S75C	possibly damaging	Het
Olfr312	T	A	11: 58,831,924	Y257N	probably damaging	Het
Olfr396-ps1	G	A	11: 73,928,837	M204I	probably benign	Het
Olfr965	A	G	9: 39,719,610	N128D	probably benign	Het
Pak1	T	A	7: 97,888,972	V262E	probably benign	Het
Pigw	A	T	11: 84,877,104	D466E	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,333,116		probably benign	Het
Rfx1	A	G	8: 84,073,756		probably benign	Het
Rfx7	A	G	9: 72,593,357	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,200,719	D226E	probably benign	Het
Sgk3	G	A	1: 9,884,476	A271T	possibly damaging	Het
Sh2d5	T	A	4: 138,256,839	C173S	probably benign	Het
Skint8	T	C	4: 111,939,572	V291A	probably benign	Het
Slc22a27	T	A	19: 7,926,689	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,116,435	V449I	probably benign	Het
Slc39a9	T	C	12: 80,679,542	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,036,128	H495Y	probably damaging	Het
Stab2	G	A	10: 86,969,185	Q310*	probably null	Het
Supt16	C	A	14: 52,171,491	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,236,177	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,548,859	T565M	unknown	Het
Tll1	G	A	8: 64,025,142	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,969,631	T232I	possibly damaging	Het
Tmem2	C	A	19: 21,826,145	Y847*	probably null	Het
Trim65	T	G	11: 116,128,290	D141A	probably benign	Het
Trim80	T	C	11: 115,441,216	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,873,217	I83N	probably benign	Het
Vnn3	G	A	10: 23,851,908	G72D	probably benign	Het
Wasl	G	T	6: 24,619,687	P278Q	unknown	Het
Wdr62	A	T	7: 30,243,917	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,723,833	T663I	unknown	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
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
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'- TGGTCCAGATCGTATTGGAAG -3'
(R):5'- GCTTGCAGTCCATTTAGTCATG -3'

Sequencing Primer
(F):5'- TTTGAGTACACAGATGGCACC -3'
(R):5'- CAGTCCATTTAGTCATGTGTAGC -3'

Posted On

2019-10-14