Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Cp'

640748

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

067852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20011218-20063309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20029186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 554 (I554M)

Ref Sequence

ENSEMBL: ENSMUSP00000088857 (fasta)

Gene Model

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

AlphaFold

Q61147

Predicted Effect

probably damaging
Transcript: ENSMUST00000003714
AA Change: I553M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: I553M

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 damaging
Transcript: ENSMUST00000091309
AA Change: I554M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: I554M

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 damaging
Transcript: ENSMUST00000108325
AA Change: I553M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: I553M

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 damaging
Transcript: ENSMUST00000108328
AA Change: I553M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: I553M

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 damaging
Transcript: ENSMUST00000108329
AA Change: I554M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: I554M

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

0.1774

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	C	A	7: 80,742,524 (GRCm39)	D780E	probably benign	Het
Anln	A	C	9: 22,262,251 (GRCm39)	S947A	probably benign	Het
Borcs6	C	T	11: 68,951,377 (GRCm39)	P252S	probably benign	Het
Ccdc42	C	A	11: 68,478,122 (GRCm39)	Q28K	probably benign	Het
Dnm3	T	G	1: 162,135,486 (GRCm39)	D429A	probably damaging	Het
Dok5	A	G	2: 170,642,813 (GRCm39)	K37R	probably benign	Het
Dtwd2	A	T	18: 49,831,492 (GRCm39)	Y268N	probably benign	Het
Eif3a	T	C	19: 60,767,806 (GRCm39)	E244G	probably damaging	Het
Elapor2	T	C	5: 9,496,966 (GRCm39)	V810A	probably benign	Het
Fam149a	T	C	8: 45,834,655 (GRCm39)	E48G	probably benign	Het
Fam186a	T	A	15: 99,838,428 (GRCm39)	E2605D	unknown	Het
Fhip1b	T	C	7: 105,038,867 (GRCm39)	E124G	probably damaging	Het
Fyn	T	A	10: 39,405,525 (GRCm39)	W264R	probably damaging	Het
Gm10024	T	A	10: 77,547,369 (GRCm39)	S27T	unknown	Het
Gpr157	C	T	4: 150,186,753 (GRCm39)	L294F	possibly damaging	Het
Kif6	C	T	17: 50,065,542 (GRCm39)	Q506*	probably null	Het
Klrh1	A	G	6: 129,752,339 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,451,242 (GRCm39)	K707R	possibly damaging	Het
Mcub	C	A	3: 129,708,814 (GRCm39)	V328L	probably benign	Het
Mdn1	C	T	4: 32,657,284 (GRCm39)	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,293,268 (GRCm39)	L94F	probably benign	Het
Mycbp2	G	T	14: 103,392,640 (GRCm39)	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,808,724 (GRCm39)		probably benign	Het
Or11g2	A	G	14: 50,855,841 (GRCm39)	Y54C	probably benign	Het
Or4f57	T	C	2: 111,790,483 (GRCm39)	I312V	probably benign	Het
Pax5	T	C	4: 44,570,027 (GRCm39)	H286R	probably benign	Het
Rmdn2	T	A	17: 79,979,966 (GRCm39)	C381*	probably null	Het
Rpusd4	A	G	9: 35,183,876 (GRCm39)	I202V	probably benign	Het
Shank3	A	T	15: 89,417,549 (GRCm39)	R49W	possibly damaging	Het
Smurf2	T	C	11: 106,721,870 (GRCm39)	T542A	probably benign	Het
Sorcs2	G	A	5: 36,219,932 (GRCm39)	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,101,388 (GRCm39)	H66R	probably damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889 (GRCm39)	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,427,156 (GRCm39)	M331V	probably damaging	Het
Tinf2	T	C	14: 55,917,042 (GRCm39)	S368G	probably damaging	Het
Tmem184c	A	T	8: 78,336,814 (GRCm39)	I14N	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ulk4	T	C	9: 120,985,941 (GRCm39)	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Vps16	G	C	2: 130,280,793 (GRCm39)	G241R	probably damaging	Het
Ythdc1	C	T	5: 86,965,181 (GRCm39)	T292I	possibly 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
R5043:Cp	UTSW	3	20,028,081 (GRCm39)	missense	probably benign	0.00
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
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'- ACATAACCTCTCTGTTGTGACC -3'
(R):5'- ATGCAATTCCTGATGCACTTGAG -3'

Sequencing Primer
(F):5'- TATATCCTCATCCTCAAGCAGC -3'
(R):5'- GTTGGGAATCTCAAGTGTACATCAC -3'

Posted On

2020-07-28