Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Apoe'

358011

Institutional Source

Beutler Lab

Gene Symbol

Apoe

Ensembl Gene

ENSMUSG00000002985

Gene Name

apolipoprotein E

Synonyms

Apoe

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

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

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19430034-19433113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19430846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 121 (V121A)

Ref Sequence

ENSEMBL: ENSMUSP00000134558 (fasta)

Gene Model

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

AlphaFold

P08226

Predicted Effect

probably benign
Transcript: ENSMUST00000003066
AA Change: V132A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985
AA Change: V132A

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
AA Change: V121A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985
AA Change: V121A

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: ENSMUST00000172983
AA Change: V132A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985
AA Change: V132A

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: ENSMUST00000173739
AA Change: V132A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985
AA Change: V132A

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: ENSMUST00000174064
AA Change: V132A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985
AA Change: V132A

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: ENSMUST00000174144
AA Change: V132A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985
AA Change: V132A

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: ENSMUST00000174355
AA Change: V132A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985
AA Change: V132A

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: ENSMUST00000174476

Predicted Effect

probably benign
Transcript: ENSMUST00000207978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207500

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly 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
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
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'- ATGCGGTCACCAAAAGCCTG -3'
(R):5'- CACTGATGGAGGACACTATGACG -3'

Sequencing Primer
(F):5'- ACCTTGCTCCACCAGAGG -3'
(R):5'- CGGAAGTAAAGGCTTACAAAAAGG -3'

Posted On

2015-11-11