Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Cp'

379366

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

042512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4910 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

19957054-20009145 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 19989224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003714] [ENSMUST00000091309] [ENSMUST00000108325] [ENSMUST00000108328] [ENSMUST00000108329] [ENSMUST00000173779] [ENSMUST00000173848]

AlphaFold

Q61147

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150264

Predicted Effect

probably benign
Transcript: ENSMUST00000172605

SMART Domains

Protein: ENSMUSP00000134347
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
PDB:1KCW\|A	2	58	2e-28	PDB
SCOP:d1kcw_5	22	58	4e-11	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000172860
AA Change: S195T

SMART Domains

Protein: ENSMUSP00000133374
Gene: ENSMUSG00000003617
AA Change: S195T

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase	53	192	1.4e-6	PFAM
Pfam:Cu-oxidase_2	66	192	4.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173779

SMART Domains

Protein: ENSMUSP00000133643
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
SCOP:d1gw0a3	1	37	7e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173848

SMART Domains

Protein: ENSMUSP00000133676
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	16	93	1e-10	PFAM

Meta Mutation Damage Score

0.1278

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,998,199	T3016K	probably damaging	Het
Adam3	T	A	8: 24,694,305	I560L	probably benign	Het
Agxt	T	C	1: 93,135,714	F113L	probably benign	Het
Aknad1	T	A	3: 108,781,252		probably null	Het
Alpk2	T	A	18: 65,266,286	K2074*	probably null	Het
Apob	A	G	12: 8,007,848	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 123,308,377	L254Q	probably damaging	Het
Arhgap26	T	A	18: 38,993,637		probably benign	Het
Arhgef5	A	G	6: 43,272,828	D171G	probably benign	Het
Arid1b	T	A	17: 5,342,203	S2003T	probably damaging	Het
Armc5	T	G	7: 128,240,728	L406R	possibly damaging	Het
Arsb	T	C	13: 93,771,977	V67A	probably benign	Het
Aspm	A	G	1: 139,491,543	Y2982C	probably damaging	Het
Btbd7	A	G	12: 102,808,048	L487P	probably damaging	Het
Card11	C	G	5: 140,874,414	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,798,691	T615M	probably damaging	Het
Cd101	T	A	3: 100,993,889	T960S	probably benign	Het
Cdca7l	C	A	12: 117,873,785	S191*	probably null	Het
Cemip	A	T	7: 83,997,411	I143N	probably damaging	Het
Cep170	C	T	1: 176,782,263	E161K	possibly damaging	Het
Chrm2	A	T	6: 36,524,233	T342S	probably benign	Het
Cib2	A	G	9: 54,549,879	F34L	probably benign	Het
Cnot1	A	T	8: 95,733,231	I1836N	probably benign	Het
Col4a3	C	A	1: 82,672,679	P552Q	unknown	Het
Cul3	C	T	1: 80,290,089	V112I	probably benign	Het
Dcdc5	A	G	2: 106,365,550		noncoding transcript	Het
Disp1	A	T	1: 183,135,463	V133E	probably damaging	Het
Dlg4	A	G	11: 70,030,925	D30G	probably damaging	Het
Dopey1	C	T	9: 86,492,061	T191I	probably damaging	Het
Enam	T	G	5: 88,502,314	S561A	probably benign	Het
Fbxw8	G	T	5: 118,125,027		probably null	Het
Filip1	A	G	9: 79,817,932	V1135A	probably benign	Het
Galnt6	T	C	15: 100,716,178	T81A	probably benign	Het
Ghdc	T	C	11: 100,766,988	K472E	probably benign	Het
Gm10568	T	G	1: 3,680,941		noncoding transcript	Het
Gm4788	T	G	1: 139,774,563	D61A	probably damaging	Het
Gm4953	T	A	1: 159,168,359		noncoding transcript	Het
Gm6871	T	A	7: 41,573,592	H24L	probably benign	Het
Gm8298	T	A	3: 59,869,014		probably null	Het
Gpr155	G	A	2: 73,367,538	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,676		probably null	Het
Ighv1-31	G	C	12: 114,829,508	S36*	probably null	Het
Ighv8-5	A	G	12: 115,067,842	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,720,926		probably benign	Het
Igkv5-48	A	C	6: 69,726,849	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,939,263	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,244,901	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,327,292	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,541,864	N147K	probably damaging	Het
Mlc1	A	G	15: 88,958,212	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,426,544	V322A	probably benign	Het
Mroh7	T	C	4: 106,709,955		probably null	Het
Mybpc1	T	A	10: 88,555,724	K304*	probably null	Het
Nlrp14	A	C	7: 107,186,583	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,217,277	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,378,409		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,360	E628G	possibly damaging	Het
Nup133	T	C	8: 123,927,131	R530G	possibly damaging	Het
Nup98	A	G	7: 102,195,800	S21P	unknown	Het
Olfr1307	A	T	2: 111,945,078	I126K	possibly damaging	Het
Olfr168	T	C	16: 19,530,018	T301A	probably benign	Het
Olfr173	T	A	16: 58,797,442	T135S	probably benign	Het
Olfr251	T	A	9: 38,378,742	V287E	probably null	Het
Olfr671	G	A	7: 104,975,479	P169S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,170,043	I202V	probably benign	Het
Olfr798	T	C	10: 129,625,807	T85A	probably damaging	Het
Otog	A	T	7: 46,264,062	Y773F	probably damaging	Het
Otog	A	T	7: 46,298,534	I2320F	probably damaging	Het
Otogl	T	C	10: 107,879,517	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,485,159	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,724,734		probably benign	Het
Pgm2	T	C	4: 99,963,527	V207A	probably damaging	Het
Pkd1	T	A	17: 24,572,687	V1116E	probably damaging	Het
Pkd1l1	T	A	11: 8,929,360	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,982,947	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,021		probably benign	Het
Prdm9	T	C	17: 15,544,323	T732A	probably benign	Het
Prg4	T	A	1: 150,455,823		probably benign	Het
Ptpro	T	C	6: 137,368,338	V114A	probably damaging	Het
Pyurf	A	G	6: 57,691,948	S20P	unknown	Het
Rasgrf1	A	G	9: 89,976,752	T488A	probably benign	Het
Rassf8	A	T	6: 145,815,280	K111*	probably null	Het
Reps1	A	T	10: 18,107,688	E426D	probably damaging	Het
Robo2	T	C	16: 73,933,778	K982R	probably damaging	Het
Rps23	T	C	13: 90,923,752		probably null	Het
Scamp4	T	A	10: 80,609,671	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,895,032	V408I	probably benign	Het
Sigirr	A	G	7: 141,093,788	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,658,741	H271L	possibly damaging	Het
Slc7a5	G	T	8: 121,885,122	T389K	probably damaging	Het
Slf1	T	A	13: 77,043,880	H945L	probably benign	Het
Slit3	T	C	11: 35,632,722	S662P	probably damaging	Het
Snta1	C	A	2: 154,377,018	E466*	probably null	Het
Sowaha	A	G	11: 53,478,445	L488P	probably damaging	Het
Spata17	C	A	1: 187,194,011	V41F	probably damaging	Het
Spta1	T	A	1: 174,217,863		probably null	Het
Srrm2	T	A	17: 23,815,388		probably benign	Het
Stard13	T	C	5: 151,062,527	N388S	probably benign	Het
Stmn3	T	C	2: 181,308,837	K59E	probably damaging	Het
Sval1	A	G	6: 41,955,444	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,358,224	D986E	probably benign	Het
Sytl5	C	T	X: 9,915,602	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,139,130	S400L	probably benign	Het
Tesc	G	T	5: 118,056,466		probably benign	Het
Tjp1	C	T	7: 65,343,727	G33R	probably damaging	Het
Tlr11	C	A	14: 50,362,889	F777L	probably benign	Het
Tmem156	A	G	5: 65,091,462		probably benign	Het
Top3a	A	G	11: 60,752,378		probably benign	Het
Tpcn1	A	G	5: 120,556,519	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,515,212		probably benign	Het
Trim80	G	A	11: 115,446,455	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,479,513		probably null	Het
Vmn2r56	T	A	7: 12,715,535	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 42,043,653	T508A	probably benign	Het
Wdr73	A	G	7: 80,891,708	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,820,331	T207K	possibly damaging	Het
Zfp120	T	A	2: 150,117,952	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,931,499	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,770,540	G841D	possibly damaging	Het
Znfx1	A	T	2: 167,036,804	M1884K	probably damaging	Het
Znfx1	G	T	2: 167,037,482	A1658D	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	19989147	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
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'- ACAGGGGAGTATACAGTTCTGATG -3'
(R):5'- AAGCCTGTAAACTATAGTGCTGG -3'

Sequencing Primer
(F):5'- GTATACAGTTCTGATGTCTTTGACC -3'
(R):5'- CCTATGCTCTGTGTATGTGCACATG -3'

Posted On

2016-04-15