Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Cp'

327955

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

041135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19957054-20009145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19966353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 170 (D170V)

Ref Sequence

ENSEMBL: ENSMUSP00000103965 (fasta)

Gene Model

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

AlphaFold

Q61147

Predicted Effect

probably damaging
Transcript: ENSMUST00000003714
AA Change: D170V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
AA Change: D170V

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: D170V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617
AA Change: D170V

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: D170V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617
AA Change: D170V

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: D170V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617
AA Change: D170V

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: D170V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617
AA Change: D170V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174803

Meta Mutation Damage Score

0.7427

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,577,453 (GRCm38)		probably benign	Het
Adprhl1	T	C	8: 13,246,114 (GRCm38)	K144E	probably benign	Het
Alpl	A	G	4: 137,758,628 (GRCm38)	I2T	possibly damaging	Het
Chdh	G	T	14: 30,031,715 (GRCm38)	G194C	probably damaging	Het
Cpne9	A	G	6: 113,290,001 (GRCm38)	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 26,198,443 (GRCm38)	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,848,761 (GRCm38)	N153S	probably benign	Het
Dnah17	T	C	11: 118,073,683 (GRCm38)	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,806,205 (GRCm38)		probably benign	Het
Eipr1	A	T	12: 28,859,373 (GRCm38)	D213V	probably damaging	Het
Fat1	T	C	8: 45,023,599 (GRCm38)	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,780,273 (GRCm38)	V462I	probably benign	Het
Gigyf2	A	G	1: 87,436,860 (GRCm38)	E954G	probably damaging	Het
Glis1	A	G	4: 107,634,718 (GRCm38)	H593R	probably damaging	Het
Gpr21	C	G	2: 37,517,432 (GRCm38)		probably benign	Het
Gsdmc3	A	G	15: 63,866,796 (GRCm38)	M139T	probably benign	Het
Hydin	C	T	8: 110,415,736 (GRCm38)	T749I	probably damaging	Het
Ilf3	C	T	9: 21,399,560 (GRCm38)	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,102,874 (GRCm38)	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,230,443 (GRCm38)	N33S	probably benign	Het
Nisch	A	G	14: 31,186,658 (GRCm38)		probably benign	Het
Npr2	G	A	4: 43,644,150 (GRCm38)	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,149 (GRCm38)	T164R	probably benign	Het
Olfr1231	A	G	2: 89,303,340 (GRCm38)	I84T	probably benign	Het
Palld	A	G	8: 61,687,372 (GRCm38)	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,414,141 (GRCm38)		probably null	Het
Plekhg3	A	C	12: 76,577,764 (GRCm38)	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,130,665 (GRCm38)	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511 (GRCm38)	V399A	probably benign	Het
Rpp30	T	A	19: 36,100,255 (GRCm38)	N172K	possibly damaging	Het
Sin3b	C	T	8: 72,739,779 (GRCm38)	A291V	probably benign	Het
Slc12a6	A	T	2: 112,335,888 (GRCm38)	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,908,394 (GRCm38)	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,197,002 (GRCm38)	T264K	probably damaging	Het
Srrm2	A	G	17: 23,810,468 (GRCm38)		probably benign	Het
Syne2	T	A	12: 76,106,060 (GRCm38)	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,335,232 (GRCm38)		probably null	Het
Vmn1r115	C	T	7: 20,844,282 (GRCm38)	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308 (GRCm38)	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,175,187 (GRCm38)	R236H	probably damaging	Het

Other mutations in Cp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cp	APN	3	19,985,662 (GRCm38)	missense	possibly damaging	0.95
IGL00923:Cp	APN	3	19,970,001 (GRCm38)	missense	probably damaging	1.00
IGL01302:Cp	APN	3	19,966,367 (GRCm38)	missense	probably damaging	0.99
IGL01407:Cp	APN	3	19,977,205 (GRCm38)	missense	possibly damaging	0.79
IGL01505:Cp	APN	3	19,977,192 (GRCm38)	missense	possibly damaging	0.83
IGL01677:Cp	APN	3	19,966,434 (GRCm38)	missense	probably damaging	1.00
IGL02013:Cp	APN	3	19,988,049 (GRCm38)	missense	probably damaging	1.00
IGL02114:Cp	APN	3	19,966,347 (GRCm38)	missense	probably benign	0.16
IGL02950:Cp	APN	3	19,988,001 (GRCm38)	missense	probably damaging	0.99
IGL03330:Cp	APN	3	19,966,435 (GRCm38)	missense	probably damaging	1.00
iron10	UTSW	3	19,989,147 (GRCm38)	unclassified	probably benign
R0008:Cp	UTSW	3	19,968,123 (GRCm38)	missense	probably damaging	1.00
R0008:Cp	UTSW	3	19,968,123 (GRCm38)	missense	probably damaging	1.00
R0320:Cp	UTSW	3	19,974,848 (GRCm38)	splice site	probably benign
R0632:Cp	UTSW	3	19,971,082 (GRCm38)	missense	probably null	0.98
R1103:Cp	UTSW	3	19,981,985 (GRCm38)	missense	possibly damaging	0.82
R1137:Cp	UTSW	3	19,978,952 (GRCm38)	missense	probably benign	0.04
R1199:Cp	UTSW	3	19,977,152 (GRCm38)	missense	probably damaging	1.00
R1523:Cp	UTSW	3	19,989,065 (GRCm38)	missense	probably benign	0.00
R1629:Cp	UTSW	3	19,966,450 (GRCm38)	critical splice donor site	probably null
R1678:Cp	UTSW	3	19,972,717 (GRCm38)	missense	probably damaging	0.99
R1733:Cp	UTSW	3	19,968,219 (GRCm38)	splice site	probably benign
R1779:Cp	UTSW	3	19,957,385 (GRCm38)	missense	possibly damaging	0.91
R1816:Cp	UTSW	3	19,968,220 (GRCm38)	splice site	probably benign
R1990:Cp	UTSW	3	19,979,013 (GRCm38)	missense	probably damaging	1.00
R2014:Cp	UTSW	3	19,987,434 (GRCm38)	missense	probably benign	0.00
R2179:Cp	UTSW	3	19,987,987 (GRCm38)	missense	probably damaging	1.00
R2249:Cp	UTSW	3	19,987,570 (GRCm38)	missense	probably damaging	1.00
R3440:Cp	UTSW	3	19,974,957 (GRCm38)	missense	probably benign	0.02
R3441:Cp	UTSW	3	19,974,957 (GRCm38)	missense	probably benign	0.02
R3886:Cp	UTSW	3	19,989,111 (GRCm38)	missense	probably damaging	1.00
R3937:Cp	UTSW	3	19,971,034 (GRCm38)	missense	probably damaging	1.00
R4387:Cp	UTSW	3	19,977,202 (GRCm38)	missense	probably damaging	1.00
R4413:Cp	UTSW	3	19,966,353 (GRCm38)	missense	probably damaging	1.00
R4514:Cp	UTSW	3	19,988,013 (GRCm38)	missense	probably damaging	0.99
R4578:Cp	UTSW	3	19,973,888 (GRCm38)	missense	probably damaging	1.00
R4579:Cp	UTSW	3	19,957,435 (GRCm38)	splice site	probably null
R4694:Cp	UTSW	3	19,974,885 (GRCm38)	missense	probably benign	0.07
R4724:Cp	UTSW	3	19,972,647 (GRCm38)	missense	probably benign	0.02
R4910:Cp	UTSW	3	19,989,224 (GRCm38)	unclassified	probably benign
R4960:Cp	UTSW	3	19,973,797 (GRCm38)	missense	probably damaging	0.96
R5043:Cp	UTSW	3	19,973,917 (GRCm38)	missense	probably benign	0.00
R5063:Cp	UTSW	3	19,989,215 (GRCm38)	missense	probably benign	0.27
R5294:Cp	UTSW	3	19,966,316 (GRCm38)	missense	probably benign	0.00
R5382:Cp	UTSW	3	19,978,925 (GRCm38)	missense	probably damaging	1.00
R5404:Cp	UTSW	3	19,989,128 (GRCm38)	missense	possibly damaging	0.92
R5569:Cp	UTSW	3	19,978,877 (GRCm38)	missense	probably damaging	1.00
R5789:Cp	UTSW	3	19,957,290 (GRCm38)	missense	probably benign
R5943:Cp	UTSW	3	19,964,306 (GRCm38)	missense	probably benign	0.11
R6492:Cp	UTSW	3	19,982,022 (GRCm38)	missense	probably benign	0.20
R6540:Cp	UTSW	3	19,964,529 (GRCm38)	critical splice donor site	probably null
R7007:Cp	UTSW	3	19,969,973 (GRCm38)	missense	probably damaging	0.97
R7126:Cp	UTSW	3	19,980,624 (GRCm38)	missense	probably damaging	1.00
R7136:Cp	UTSW	3	19,985,658 (GRCm38)	nonsense	probably null
R7212:Cp	UTSW	3	19,974,966 (GRCm38)	missense	probably damaging	1.00
R7269:Cp	UTSW	3	19,983,477 (GRCm38)	missense	probably damaging	1.00
R7316:Cp	UTSW	3	19,972,752 (GRCm38)	missense	probably damaging	1.00
R7336:Cp	UTSW	3	19,964,532 (GRCm38)	splice site	probably null
R7361:Cp	UTSW	3	19,964,306 (GRCm38)	missense	probably benign	0.11
R7578:Cp	UTSW	3	19,989,098 (GRCm38)	missense	possibly damaging	0.65
R7593:Cp	UTSW	3	19,966,330 (GRCm38)	missense	probably benign	0.00
R7782:Cp	UTSW	3	19,975,059 (GRCm38)	critical splice donor site	probably null
R7858:Cp	UTSW	3	19,971,055 (GRCm38)	missense	probably benign	0.05
R8246:Cp	UTSW	3	19,975,022 (GRCm38)	missense	probably damaging	1.00
R8247:Cp	UTSW	3	19,966,406 (GRCm38)	missense	possibly damaging	0.84
R8300:Cp	UTSW	3	19,957,221 (GRCm38)	start gained	probably benign
R8507:Cp	UTSW	3	19,971,029 (GRCm38)	missense	probably damaging	1.00
R8756:Cp	UTSW	3	20,005,572 (GRCm38)	critical splice donor site	probably null
R8826:Cp	UTSW	3	19,985,575 (GRCm38)	missense	probably damaging	1.00
R8875:Cp	UTSW	3	19,973,830 (GRCm38)	missense	possibly damaging	0.94
R9018:Cp	UTSW	3	19,989,152 (GRCm38)	missense	probably damaging	1.00
R9072:Cp	UTSW	3	19,978,994 (GRCm38)	missense	possibly damaging	0.91
R9111:Cp	UTSW	3	19,973,785 (GRCm38)	missense	probably damaging	1.00
R9439:Cp	UTSW	3	19,992,507 (GRCm38)	critical splice acceptor site	probably null
R9443:Cp	UTSW	3	19,978,919 (GRCm38)	missense	possibly damaging	0.84
R9460:Cp	UTSW	3	19,964,402 (GRCm38)	missense
R9733:Cp	UTSW	3	19,978,962 (GRCm38)	missense	probably damaging	1.00
R9748:Cp	UTSW	3	19,989,171 (GRCm38)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACAGCCACTAGATGATGAGGAC -3'
(R):5'- TTTTGTGATGTGACAACAAGGG -3'

Sequencing Primer
(F):5'- TGATGAGGACTGACAATTATTTCAAC -3'
(R):5'- GTGACAACAAGGGTATATTTATGCC -3'

Posted On

2015-07-07