Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Apoe'

252928

Institutional Source

Beutler Lab

Gene Symbol

Apoe

Ensembl Gene

ENSMUSG00000002985

Gene Name

apolipoprotein E

Synonyms

Apoe

MMRRC Submission

040452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R2862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19430034-19433113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19431479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 46 (Y46C)

Ref Sequence

ENSEMBL: ENSMUSP00000134160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003066] [ENSMUST00000032555] [ENSMUST00000045035] [ENSMUST00000093552] [ENSMUST00000108451] [ENSMUST00000172808] [ENSMUST00000174064] [ENSMUST00000174191] [ENSMUST00000172983] [ENSMUST00000173739] [ENSMUST00000174144] [ENSMUST00000174355] [ENSMUST00000174710] [ENSMUST00000207978]

AlphaFold

P08226

Predicted Effect

probably damaging
Transcript: ENSMUST00000003066
AA Change: Y46C

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

SMART Domains

Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032555

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984

Domain	Start	End	E-Value	Type
low complexity region	8	69	N/A	INTRINSIC
Pfam:Porin_3	79	355	7.7e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045035

SMART Domains

Protein: ENSMUSP00000045571
Gene: ENSMUSG00000040564

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ApoC-I	27	87	1.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093552

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984

Domain	Start	End	E-Value	Type
low complexity region	8	69	N/A	INTRINSIC
Pfam:Porin_3	79	355	1.5e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108451

SMART Domains

Protein: ENSMUSP00000104091
Gene: ENSMUSG00000040564

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ApoC-I	27	87	3.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167646

SMART Domains

Protein: ENSMUSP00000132032
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	201	1.9e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172808
AA Change: Y35C

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

SMART Domains

Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985
AA Change: Y35C

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Apolipoprotein	61	146	8.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174064
AA Change: Y46C

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

SMART Domains

Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	73	284	2e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174191
AA Change: Y46C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133447
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
PDB:1YA9\|A	20	70	8e-31	PDB
SCOP:d1nfn__	34	70	5e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172983
AA Change: Y46C

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

SMART Domains

Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	232	1.3e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173739
AA Change: Y46C

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

SMART Domains

Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174144
AA Change: Y46C

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

SMART Domains

Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	232	1.3e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174355
AA Change: Y46C

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

SMART Domains

Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174710
AA Change: Y46C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134429
Gene: ENSMUSG00000002985
AA Change: Y46C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
PDB:1YA9\|A	20	70	8e-31	PDB
SCOP:d1nfn__	34	70	5e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174476

Predicted Effect

probably benign
Transcript: ENSMUST00000207978

Meta Mutation Damage Score

0.9201

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the apolipoprotein A1/A4/E family of proteins. This protein is involved in the transport of lipoproteins in the blood. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. Homozygous knockout mice for this gene accumulate high levels of cholesterol in the blood and develop atherosclerosis. Different alleles of this gene have been associated with either increased risk or a protective effect for Alzheimer's disease in human patients. This gene maps to chromosome 7 in a cluster with the related apolipoprotein C1, C2 and C4 genes. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mutations at this locus cause diet-induced hypercholesterolemia and atherosclerosis. Homozygous null mutants also develop foam-cell rich deposits in proximal aorta, impaired blood-nerve and blood-brain barriers, and many xanthomatous lesions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Ccdc121	G	A	5: 31,643,255 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lamp5	A	T	2: 135,900,866 (GRCm39)	H22L	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Mrps18b	G	A	17: 36,221,746 (GRCm39)	S101L	probably benign	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4c109	A	T	2: 88,817,664 (GRCm39)	I294K	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Slc35e4	A	T	11: 3,862,796 (GRCm39)	V131D	probably damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	Het

Other mutations in Apoe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Apoe	APN	7	19,430,525 (GRCm39)	missense	probably damaging	1.00
IGL03324:Apoe	APN	7	19,430,462 (GRCm39)	missense	probably benign	0.05
R0008:Apoe	UTSW	7	19,431,005 (GRCm39)	missense	probably damaging	0.99
R2860:Apoe	UTSW	7	19,431,479 (GRCm39)	missense	probably damaging	1.00
R2861:Apoe	UTSW	7	19,431,479 (GRCm39)	missense	probably damaging	1.00
R3919:Apoe	UTSW	7	19,430,472 (GRCm39)	missense	probably benign	0.00
R4583:Apoe	UTSW	7	19,431,423 (GRCm39)	missense	possibly damaging	0.66
R4756:Apoe	UTSW	7	19,430,846 (GRCm39)	missense	probably benign	0.20
R5027:Apoe	UTSW	7	19,430,940 (GRCm39)	missense	probably damaging	1.00
R6188:Apoe	UTSW	7	19,432,305 (GRCm39)	intron	probably benign
R6464:Apoe	UTSW	7	19,431,461 (GRCm39)	missense	probably damaging	1.00
R7652:Apoe	UTSW	7	19,430,535 (GRCm39)	missense	possibly damaging	0.95
R8277:Apoe	UTSW	7	19,432,303 (GRCm39)	intron	probably benign
R8513:Apoe	UTSW	7	19,430,565 (GRCm39)	missense	probably damaging	1.00
R8932:Apoe	UTSW	7	19,430,597 (GRCm39)	missense	possibly damaging	0.72
R9123:Apoe	UTSW	7	19,432,375 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGTGTCCTCCATCAGTGCC -3'
(R):5'- ACAAGACAGTGCATGCTTGTAG -3'

Sequencing Primer
(F):5'- TCGAAGCCAGCTTGAGTTAC -3'
(R):5'- GCTTGTAGTATCTAAACAGACTCCAC -3'

Posted On

2014-12-04