Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Apoe'

306890

Institutional Source

Beutler Lab

Gene Symbol

Apoe

Ensembl Gene

ENSMUSG00000002985

Gene Name

apolipoprotein E

Synonyms

Apoe

MMRRC Submission

040817-MU

Accession Numbers

Essential gene?

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

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19430034-19433113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19430472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 257 (T257A)

Ref Sequence

ENSEMBL: ENSMUSP00000134160 (fasta)

Gene Model

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

AlphaFold

P08226

Predicted Effect

probably benign
Transcript: ENSMUST00000003066
AA Change: T257A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985
AA Change: T257A

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 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 benign
Transcript: ENSMUST00000174064
AA Change: T257A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985
AA Change: T257A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173739
AA Change: T257A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985
AA Change: T257A

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: ENSMUST00000174355
AA Change: T257A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985
AA Change: T257A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207525

Predicted Effect

probably benign
Transcript: ENSMUST00000207978

Predicted Effect

probably benign
Transcript: ENSMUST00000174144

SMART Domains

Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985

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: ENSMUST00000172983

SMART Domains

Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985

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 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 43,879,852 (GRCm39)		probably benign	Het
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Abcb5	A	G	12: 118,854,353 (GRCm39)	M854T	possibly damaging	Het
Akap9	T	A	5: 4,011,764 (GRCm39)	Y822*	probably null	Het
Atm	C	A	9: 53,403,578 (GRCm39)	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,222,599 (GRCm39)	S674P	unknown	Het
Cd177	T	C	7: 24,443,858 (GRCm39)	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,298,460 (GRCm39)	F91L	possibly damaging	Het
Chil4	A	T	3: 106,109,848 (GRCm39)	N388K	probably benign	Het
Dnah3	G	A	7: 119,550,303 (GRCm39)	L3328F	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ercc5	C	A	1: 44,201,091 (GRCm39)	T217K	probably damaging	Het
Esyt1	T	A	10: 128,356,905 (GRCm39)		probably benign	Het
Ifih1	C	A	2: 62,453,845 (GRCm39)		probably benign	Het
Ints12	A	T	3: 132,806,444 (GRCm39)	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914 (GRCm39)	L1022P	probably damaging	Het
Lama2	T	A	10: 26,994,501 (GRCm39)	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 93,640,902 (GRCm39)	T449I	probably damaging	Het
Ly6c2	A	T	15: 74,980,613 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,232,066 (GRCm39)	K1304E	probably benign	Het
Mdm4	T	C	1: 132,922,306 (GRCm39)	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,749 (GRCm39)	S132N	probably benign	Het
Mras	T	A	9: 99,293,473 (GRCm39)	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,097,829 (GRCm39)	K28E	probably benign	Het
Myrip	G	A	9: 120,261,695 (GRCm39)	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,850,723 (GRCm39)	T379S	probably damaging	Het
Or8k27	A	G	2: 86,275,762 (GRCm39)	V188A	probably benign	Het
Plscr3	T	A	11: 69,738,236 (GRCm39)		probably benign	Het
Pola1	C	A	X: 92,505,078 (GRCm39)	R1313L	probably benign	Het
Ppt2	T	C	17: 34,841,897 (GRCm39)	N213S	probably damaging	Het
Prelid2	T	A	18: 42,070,740 (GRCm39)	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,402,588 (GRCm39)		probably null	Het
Rec8	A	G	14: 55,858,716 (GRCm39)	T164A	probably benign	Het
Rnf103	G	A	6: 71,487,331 (GRCm39)	R654Q	probably benign	Het
Setdb2	T	A	14: 59,656,616 (GRCm39)	I250F	probably damaging	Het
Slurp1	A	T	15: 74,598,659 (GRCm39)	*111K	probably null	Het
Sphkap	T	G	1: 83,254,179 (GRCm39)	E903A	probably damaging	Het
Sst	T	C	16: 23,708,591 (GRCm39)	D80G	possibly damaging	Het
Stat4	C	T	1: 52,135,981 (GRCm39)	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,091,964 (GRCm39)	V174M	probably benign	Het
Trim6	A	T	7: 103,882,057 (GRCm39)	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,433,245 (GRCm39)	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,434,854 (GRCm39)	N462D	possibly damaging	Het
Whrn	G	T	4: 63,413,421 (GRCm39)	S17*	probably null	Het
Zfhx4	T	A	3: 5,464,175 (GRCm39)	S1469R	possibly damaging	Het
Zfp108	T	A	7: 23,960,257 (GRCm39)	C283S	probably damaging	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
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'- CATTGATTCTCCTGGGCCAC -3'
(R):5'- TAGCTGTGTACAAGGCAGGG -3'

Sequencing Primer
(F):5'- GCCACTGGGGTGATGATG -3'
(R):5'- TGTGAGTGCCATCCGTGAGC -3'

Posted On

2015-04-17