Mutagenetix > Incidental Mutation

Incidental Mutation 'R4657:Apoa5'

352527

Institutional Source

Beutler Lab

Gene Symbol

Apoa5

Ensembl Gene

ENSMUSG00000032079

Gene Name

apolipoprotein A-V

Synonyms

1300007O05Rik, RAP3, Apoav

MMRRC Submission

041917-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4657 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46268633-46271919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46269872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 82 (Q82R)

Ref Sequence

ENSEMBL: ENSMUSP00000149877 (fasta)

Gene Model

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

AlphaFold

Q8C7G5

Predicted Effect

probably benign
Transcript: ENSMUST00000034584
AA Change: Q82R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: Q82R

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 benign
Transcript: ENSMUST00000121598
AA Change: Q82R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: Q82R

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
AA Change: Q82R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000214202
AA Change: Q82R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000215187

Predicted Effect

probably benign
Transcript: ENSMUST00000215458
AA Change: Q82R

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215484

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,013,478	V264E	possibly damaging	Het
Abcg1	T	A	17: 31,108,434	W368R	probably benign	Het
Acin1	A	G	14: 54,643,047	I476T	possibly damaging	Het
Acsm1	T	A	7: 119,640,694	I287N	possibly damaging	Het
Adgrv1	C	T	13: 81,405,364	V5464I	probably benign	Het
AI429214	T	A	8: 36,994,391	L231Q	probably damaging	Het
Akp3	A	G	1: 87,125,834		probably benign	Het
Amy2b	C	T	3: 113,153,477		noncoding transcript	Het
Arhgap44	A	G	11: 65,005,452		probably null	Het
Arhgef38	C	A	3: 133,234,681	G48V	probably damaging	Het
Bod1l	G	T	5: 41,818,612	N1786K	probably benign	Het
Cav2	A	T	6: 17,281,410	D17V	probably null	Het
Ccdc148	G	T	2: 59,001,888	N238K	probably benign	Het
Ccin	A	T	4: 43,984,981	I463F	probably damaging	Het
Cd8b1	C	T	6: 71,329,774	H162Y	possibly damaging	Het
Cdh16	T	A	8: 104,615,226		probably null	Het
Cfap65	T	A	1: 74,925,354		probably benign	Het
Clec4n	T	C	6: 123,232,196		probably null	Het
Cpne7	T	A	8: 123,134,575	*558R	probably null	Het
Cs	A	G	10: 128,353,137	I172V	probably benign	Het
Cyp2ab1	A	T	16: 20,313,072	L306Q	probably damaging	Het
D16Ertd472e	A	T	16: 78,547,926	V98E	probably damaging	Het
Dcaf15	A	C	8: 84,102,838	S92A	probably damaging	Het
Dkk3	T	C	7: 112,149,046		probably null	Het
Dnah11	A	T	12: 118,192,427	C163S	probably benign	Het
Eda2r	T	A	X: 97,341,633	Q171L	probably damaging	Het
Eml4	A	T	17: 83,450,948	K397*	probably null	Het
Eml6	A	T	11: 29,805,108	I889N	possibly damaging	Het
Etaa1	A	T	11: 17,946,964	D384E	possibly damaging	Het
Fzr1	T	A	10: 81,367,552		probably null	Het
Gm13889	G	T	2: 93,956,576	F61L	probably damaging	Het
Gm14149	A	T	2: 151,230,764		noncoding transcript	Het
Gm5828	T	A	1: 16,769,418		noncoding transcript	Het
Gm5866	G	A	5: 52,582,920		noncoding transcript	Het
Gp2	T	C	7: 119,457,168	I27M	probably benign	Het
Gpr83	G	A	9: 14,866,983		probably null	Het
Gucd1	T	C	10: 75,511,125	N97S	probably benign	Het
H2-Q7	T	A	17: 35,442,759	V326E	possibly damaging	Het
Haao	A	T	17: 83,832,345	D227E	possibly damaging	Het
Hipk3	C	T	2: 104,433,759	S819N	probably benign	Het
Hist3h2ba	C	T	11: 58,948,971	P11L	probably benign	Het
Hlcs	A	G	16: 94,262,698	V501A	probably benign	Het
Hmcn1	A	G	1: 150,624,550	Y3964H	probably damaging	Het
Ifi204	C	A	1: 173,760,361		probably benign	Het
Ifi211	A	G	1: 173,907,660	F68L	probably benign	Het
Ift57	A	G	16: 49,762,594		probably null	Het
Ighv5-12-4	A	T	12: 113,762,267	L112*	probably null	Het
Il1f6	T	A	2: 24,224,404	M97K	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Itsn2	A	G	12: 4,713,197	*1686W	probably null	Het
Jkamp	G	T	12: 72,094,049	V123F	probably damaging	Het
Kat7	C	A	11: 95,277,598	V411L	probably damaging	Het
Kcnj5	A	G	9: 32,322,677	V114A	probably benign	Het
Krtap5-4	T	A	7: 142,303,754	C54S	unknown	Het
Lats1	T	A	10: 7,705,684	N744K	possibly damaging	Het
Lpo	T	C	11: 87,814,347	E387G	probably damaging	Het
Lrba	T	G	3: 86,737,164	M388R	probably damaging	Het
Lrp2	C	A	2: 69,466,993	R3208L	probably damaging	Het
Mterf1b	T	A	5: 4,197,176	C272*	probably null	Het
Mum1	T	A	10: 80,233,014	C331S	probably benign	Het
Myh15	A	T	16: 49,172,058	R1632*	probably null	Het
Myo3b	T	C	2: 70,238,899	V494A	possibly damaging	Het
Myo9a	T	C	9: 59,875,416		probably null	Het
Nelfa	T	G	5: 33,901,813	S233R	probably benign	Het
Nr4a3	A	T	4: 48,051,522	E121V	probably damaging	Het
Obscn	T	A	11: 59,042,290	E5406D	probably damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr347	T	A	2: 36,734,403	Y27*	probably null	Het
Olfr873	A	C	9: 20,300,623	H142P	probably damaging	Het
Oxct2b	T	C	4: 123,117,133	L282P	probably damaging	Het
Pappa	G	A	4: 65,314,796		probably null	Het
Pcdhb14	A	G	18: 37,448,847	I335M	possibly damaging	Het
Pcsk1	T	A	13: 75,132,235	D726E	probably damaging	Het
Pkhd1	T	A	1: 20,364,167	Q2349L	possibly damaging	Het
Pkhd1l1	G	A	15: 44,547,347	C2750Y	probably damaging	Het
Ppp2r3d	A	G	9: 124,476,821	C26R	unknown	Het
Prex2	T	A	1: 11,065,825	I74N	probably benign	Het
Ptgir	A	G	7: 16,907,146	D121G	probably benign	Het
Ralbp1	T	C	17: 65,852,691	S526G	probably null	Het
Ric8b	T	C	10: 84,992,137	Y442H	probably damaging	Het
Rpap1	C	T	2: 119,775,006	D385N	probably benign	Het
Sash1	T	C	10: 8,725,660	Y1177C	probably damaging	Het
Shroom1	T	C	11: 53,465,588	I363T	possibly damaging	Het
Slc26a9	T	C	1: 131,753,138	L95P	probably damaging	Het
Slc44a5	A	G	3: 154,256,584	T385A	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc7a1	T	A	5: 148,352,399	M13L	probably benign	Het
Snrpb2	A	G	2: 143,070,973	N172S	possibly damaging	Het
Spns1	G	T	7: 126,374,302		probably benign	Het
Srsf6	T	A	2: 162,933,427	S86R	probably benign	Het
Stk25	A	T	1: 93,625,656		probably benign	Het
Szt2	A	T	4: 118,397,669	C275S	probably benign	Het
Tcp10b	T	A	17: 13,073,617		probably null	Het
Tmem248	T	A	5: 130,231,774	L60H	probably damaging	Het
Trim27	T	C	13: 21,183,760	I182T	probably damaging	Het
Tspan10	A	G	11: 120,444,498	N145D	probably damaging	Het
Uhrf1bp1	T	A	17: 27,890,105	F1099L	probably benign	Het
Vps13d	A	G	4: 145,074,842	F487S	probably damaging	Het
Wdr86	A	T	5: 24,718,231	D154E	probably benign	Het
Wfdc18	C	A	11: 83,709,869	A32D	possibly damaging	Het
Wrn	A	T	8: 33,335,991		probably null	Het
Zfp811	C	A	17: 32,800,923	E7*	probably null	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
R4760:Apoa5	UTSW	9	46270295	missense	probably damaging	0.97
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'- AAATATTAGTGTCCCACAGCTTTGG -3'
(R):5'- AGCTGAGCCTTGGTGTCTTC -3'

Sequencing Primer
(F):5'- CTTTGGGGAAAGGGAGATTTCAATGC -3'
(R):5'- CAGCTCCTGCACACTCAG -3'

Posted On

2015-10-08