Mutagenetix > Incidental Mutation

Incidental Mutation 'R8513:Apoe'

655978

Institutional Source

Beutler Lab

Gene Symbol

Apoe

Ensembl Gene

ENSMUSG00000002985

Gene Name

apolipoprotein E

Synonyms

Apoe

MMRRC Submission

067889-MU

Accession Numbers

Essential gene?

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

Stock #

R8513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19430034-19433113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19430565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 226 (G226W)

Ref Sequence

ENSEMBL: ENSMUSP00000133302 (fasta)

Gene Model

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

AlphaFold

P08226

Predicted Effect

probably damaging
Transcript: ENSMUST00000003066
AA Change: G226W

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

SMART Domains

Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985
AA Change: G226W

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

probably benign
Transcript: ENSMUST00000172808

SMART Domains

Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985

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: ENSMUST00000172983
AA Change: G226W

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

SMART Domains

Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985
AA Change: G226W

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: ENSMUST00000174064
AA Change: G226W

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

SMART Domains

Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985
AA Change: G226W

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: ENSMUST00000173739
AA Change: G226W

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

SMART Domains

Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985
AA Change: G226W

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: G226W

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

SMART Domains

Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985
AA Change: G226W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174191

SMART Domains

Protein: ENSMUSP00000133447
Gene: ENSMUSG00000002985

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: ENSMUST00000174355
AA Change: G226W

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

SMART Domains

Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985
AA Change: G226W

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: ENSMUST00000174710

SMART Domains

Protein: ENSMUSP00000134429
Gene: ENSMUSG00000002985

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 benign
Transcript: ENSMUST00000207978

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc9	T	C	1: 86,090,405 (GRCm39)	F67L	probably damaging	Het
Bsn	T	C	9: 107,991,709 (GRCm39)	I1348V	possibly damaging	Het
Cdc73	C	A	1: 143,493,129 (GRCm39)	E402*	probably null	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117 (GRCm39)		probably null	Het
Cpt2	G	A	4: 107,764,123 (GRCm39)	A547V	probably damaging	Het
Cpxm2	A	T	7: 131,745,431 (GRCm39)	H131Q	probably benign	Het
Ctdp1	G	A	18: 80,492,678 (GRCm39)	L606F	possibly damaging	Het
Dot1l	T	C	10: 80,627,260 (GRCm39)	S1494P	possibly damaging	Het
Evpl	C	T	11: 116,120,570 (GRCm39)		probably null	Het
Fgd3	T	C	13: 49,417,400 (GRCm39)	T688A	probably benign	Het
Galnt3	A	T	2: 65,924,064 (GRCm39)	C401*	probably null	Het
Gml2	C	G	15: 74,696,004 (GRCm39)	P133A	probably damaging	Het
Hepacam	A	G	9: 37,291,930 (GRCm39)	E86G	probably benign	Het
Ilf3	A	G	9: 21,299,932 (GRCm39)	E39G	possibly damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Kiz	A	G	2: 146,712,684 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,227,370 (GRCm39)	L147H	probably damaging	Het
Naa15	T	A	3: 51,367,444 (GRCm39)	V539E	probably damaging	Het
Nlrp6	A	C	7: 140,502,743 (GRCm39)	D283A	possibly damaging	Het
Ntf5	A	G	7: 45,065,179 (GRCm39)	T104A	probably damaging	Het
Or1e28-ps1	A	G	11: 73,615,148 (GRCm39)	V234A	unknown	Het
Pacsin3	A	C	2: 91,093,150 (GRCm39)	N214T	probably benign	Het
Pcdha6	T	C	18: 37,102,229 (GRCm39)	I474T	probably damaging	Het
Pcdhgb1	A	G	18: 37,813,581 (GRCm39)	Y24C	probably damaging	Het
Pde2a	A	T	7: 101,158,972 (GRCm39)	N749Y	probably damaging	Het
Ptpn3	G	A	4: 57,270,085 (GRCm39)	R26*	probably null	Het
Rab7	T	C	6: 87,981,250 (GRCm39)	Y144C	probably benign	Het
Ralgps1	T	C	2: 33,226,626 (GRCm39)	S22G	probably damaging	Het
Setdb2	G	A	14: 59,639,839 (GRCm39)	T668M	probably damaging	Het
Slit2	T	A	5: 48,382,050 (GRCm39)	C510*	probably null	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata2l	T	C	8: 123,960,438 (GRCm39)	M284V	probably benign	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Stab1	C	A	14: 30,871,747 (GRCm39)		probably null	Het
Tmem184b	A	T	15: 79,254,123 (GRCm39)	S142T	probably benign	Het
Tmem201	A	T	4: 149,812,380 (GRCm39)	M312K	probably damaging	Het
Tpp1	A	T	7: 105,398,786 (GRCm39)	D214E	possibly damaging	Het
Trav7-2	C	T	14: 53,628,478 (GRCm39)	S72F	probably damaging	Het
Vmn1r37	A	G	6: 66,708,820 (GRCm39)	T149A	probably benign	Het
Zfp512	T	C	5: 31,637,425 (GRCm39)	S505P	probably damaging	Het
Zfp942	T	C	17: 22,147,282 (GRCm39)	D449G	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
R2862: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
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'- ATGATGGGGTTGGTAGCCAC -3'
(R):5'- CTAGCTGTGTACAAGGCAGG -3'

Sequencing Primer
(F):5'- ATCAGGTTTGCCCACTGG -3'
(R):5'- TGTGTACAAGGCAGGGGCAC -3'

Posted On

2020-10-20