Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Apoa5'

356814

Institutional Source

Beutler Lab

Gene Symbol

Apoa5

Ensembl Gene

ENSMUSG00000032079

Gene Name

apolipoprotein A-V

Synonyms

1300007O05Rik, RAP3, Apoav

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4760 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

46268633-46271919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46270295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

Ref Sequence

ENSEMBL: ENSMUSP00000113413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034584] [ENSMUST00000121598] [ENSMUST00000156440] [ENSMUST00000213878] [ENSMUST00000214202] [ENSMUST00000215187] [ENSMUST00000215458]

AlphaFold

Q8C7G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034584
AA Change: V223A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: V223A

Domain	Start	End	E-Value	Type
Pfam:Apolipoprotein	52	264	5.1e-59	PFAM
Pfam:Apolipoprotein	258	315	1.8e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114552

SMART Domains

Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078

Domain	Start	End	E-Value	Type
Zpr1	12	150	5.57e-30	SMART
Zpr1	184	343	4.27e-90	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121598
AA Change: V223A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: V223A

Domain	Start	End	E-Value	Type
Pfam:Apolipoprotein	51	305	8.1e-66	PFAM
low complexity region	312	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125239

SMART Domains

Protein: ENSMUSP00000123437
Gene: ENSMUSG00000032078

Domain	Start	End	E-Value	Type
low complexity region	11	32	N/A	INTRINSIC
Blast:Zpr1	33	59	2e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141763

Predicted Effect

probably benign
Transcript: ENSMUST00000156440

SMART Domains

Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
Zpr1	49	207	1.47e-93	SMART
low complexity region	236	246	N/A	INTRINSIC
Zpr1	257	416	4.27e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213878

Predicted Effect

probably benign
Transcript: ENSMUST00000214202

Predicted Effect

probably benign
Transcript: ENSMUST00000215187

Predicted Effect

probably benign
Transcript: ENSMUST00000215458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215484

Meta Mutation Damage Score

0.5421

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased triglyceride and VLDL cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113	Y17C	probably benign	Het
BC048403	T	C	10: 121,740,007	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939	C119Y	probably damaging	Het
Chat	T	C	14: 32,453,737	N122S	probably benign	Het
Col20a1	A	T	2: 180,984,403		probably benign	Het
Cyp2j9	A	T	4: 96,568,791	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,719,043	V438M	probably damaging	Het
Eva1c	G	A	16: 90,904,250	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886	H477R	probably benign	Het
Fga	T	G	3: 83,031,514	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259		probably null	Het
L3hypdh	T	C	12: 72,077,242	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687		probably benign	Het
Map4k5	T	A	12: 69,824,598	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716		probably null	Het
Mllt1	A	G	17: 56,902,630	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603	T23N	probably benign	Het
Nop53	C	A	7: 15,942,887	K100N	probably benign	Het
Nrg1	C	A	8: 31,918,200	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489	H228Q	probably benign	Het
Pank4	A	G	4: 154,974,634	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,411,942	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519		probably null	Het
Prdx3	A	C	19: 60,873,183	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128	L408P	probably damaging	Het
Rdx	T	C	9: 52,065,874	I141T	probably benign	Het
Reep1	T	A	6: 71,708,001	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496	I41L	probably benign	Het
Slc39a12	G	A	2: 14,400,323	S242N	probably benign	Het
Slc9a2	T	A	1: 40,761,916	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527		probably benign	Het
Tg	G	T	15: 66,693,319	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864	C148R	possibly damaging	Het

Other mutations in Apoa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Apoa5	APN	9	46270652	missense	probably damaging	0.98
IGL02089:Apoa5	APN	9	46269139	critical splice donor site	probably null
R0046:Apoa5	UTSW	9	46269998	missense	probably damaging	1.00
R1722:Apoa5	UTSW	9	46270549	nonsense	probably null
R2007:Apoa5	UTSW	9	46270367	missense	possibly damaging	0.95
R2356:Apoa5	UTSW	9	46270043	missense	probably damaging	0.98
R3739:Apoa5	UTSW	9	46269117	missense	probably damaging	1.00
R3835:Apoa5	UTSW	9	46270580	missense	probably damaging	1.00
R4364:Apoa5	UTSW	9	46270529	missense	probably damaging	1.00
R4657:Apoa5	UTSW	9	46269872	missense	probably benign	0.12
R5160:Apoa5	UTSW	9	46270496	missense	probably damaging	0.99
R5523:Apoa5	UTSW	9	46270589	missense	possibly damaging	0.79
R5915:Apoa5	UTSW	9	46269309	missense	probably damaging	1.00
R6106:Apoa5	UTSW	9	46270633	nonsense	probably null
R6849:Apoa5	UTSW	9	46270000	missense	probably benign	0.03
R7170:Apoa5	UTSW	9	46270139	missense	probably benign	0.00
R9268:Apoa5	UTSW	9	46270421	missense	probably benign	0.18
R9403:Apoa5	UTSW	9	46270646	missense	probably damaging	1.00
R9495:Apoa5	UTSW	9	46270646	missense	probably damaging	1.00
R9499:Apoa5	UTSW	9	46270646	missense	probably damaging	1.00
Z1177:Apoa5	UTSW	9	46269119	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CAGTTGAAACCCTACACGGC -3'
(R):5'- AAAAGCCTGCAGTCTCTGG -3'

Sequencing Primer
(F):5'- ACCAAGGCTCAGCTCCTG -3'
(R):5'- TGCAGTCTCTGGCGGAC -3'

Posted On

2015-11-11