Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Apoa5'

222511

Institutional Source

Beutler Lab

Gene Symbol

Apoa5

Ensembl Gene

ENSMUSG00000032079

Gene Name

apolipoprotein A-V

Synonyms

1300007O05Rik, RAP3, Apoav

MMRRC Submission

040016-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2007 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

46268633-46271919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46270367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 247 (Q247L)

Ref Sequence

ENSEMBL: ENSMUSP00000113413 (fasta)

Gene Model

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

AlphaFold

Q8C7G5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034584
AA Change: Q247L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: Q247L

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

possibly damaging
Transcript: ENSMUST00000121598
AA Change: Q247L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: Q247L

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

0.3164

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,542,892	N1387K	probably benign	Het
Abca13	T	C	11: 9,191,987	F8L	probably benign	Het
Abcg5	G	T	17: 84,669,920	L270M	probably damaging	Het
Acad10	A	G	5: 121,634,751	L489S	probably damaging	Het
Acsf2	G	A	11: 94,571,640	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,177,856	E282V	probably damaging	Het
Adcy4	C	T	14: 55,778,313	G440R	possibly damaging	Het
AI429214	G	A	8: 36,993,769	V24I	probably benign	Het
Angptl3	T	C	4: 99,037,397	I320T	probably damaging	Het
Astn1	T	G	1: 158,609,305	V811G	probably damaging	Het
Bard1	C	T	1: 71,031,403	V641I	probably benign	Het
Calb2	T	C	8: 110,168,070	E23G	probably benign	Het
Cdkl4	A	G	17: 80,556,301		probably benign	Het
Cep85l	A	G	10: 53,278,075		probably benign	Het
Chd1	G	T	17: 15,731,006	G281V	probably damaging	Het
Col17a1	C	T	19: 47,667,702	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833	D66V	probably damaging	Het
Csde1	A	T	3: 103,044,791	I204L	probably damaging	Het
Dchs1	A	T	7: 105,755,325	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,213,278	V428A	probably benign	Het
Dgkh	T	A	14: 78,603,049	D530V	probably benign	Het
Dis3l	A	T	9: 64,308,276		probably null	Het
Dst	T	G	1: 34,226,012		probably benign	Het
Eml6	C	T	11: 29,848,814		probably null	Het
En1	A	T	1: 120,603,404	E124D	probably benign	Het
Exo1	G	A	1: 175,908,530	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,778,748		probably benign	Het
Foxp2	G	A	6: 15,396,819	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,697,166	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,212,618	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,500,831	I155T	unknown	Het
Hmcn2	A	G	2: 31,438,255	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,319,513		probably benign	Het
Hpx	G	A	7: 105,595,574	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,520,548	E151A	probably benign	Het
Krt6b	A	T	15: 101,678,127	L309H	probably damaging	Het
Lce1c	G	T	3: 92,680,458	C64F	unknown	Het
Maats1	T	C	16: 38,298,254	I728V	probably benign	Het
March6	C	T	15: 31,461,941		probably null	Het
Myt1	C	A	2: 181,795,759	R88S	probably benign	Het
Nemp1	A	G	10: 127,693,577	S194G	probably benign	Het
Nphp4	A	G	4: 152,554,654	K914R	probably damaging	Het
Olfr410	T	A	11: 74,334,386	T282S	possibly damaging	Het
Osbp	T	C	19: 11,973,901	M270T	probably benign	Het
Parg	T	C	14: 32,210,574	M457T	possibly damaging	Het
Phf20	T	C	2: 156,287,954	M482T	probably benign	Het
Pik3c2a	G	A	7: 116,342,237	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,579,785	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,967,255	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,320,236	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,993,540	T65S	probably benign	Het
Sipa1l2	G	A	8: 125,439,437	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,227,048	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,928,629	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,571,374	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,350,123	F301S	probably damaging	Het
Tmem233	A	C	5: 116,051,437	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,332,545	D193G	probably damaging	Het
Tprkb	T	C	6: 85,933,048		probably benign	Het
Tram1l1	A	G	3: 124,321,839	H216R	possibly damaging	Het
Ttn	A	G	2: 76,734,140	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,409,251	N25S	possibly damaging	Het
Unc80	C	A	1: 66,503,776	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,632,587	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,347,953	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,586,644	I995V	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
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
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'- AACGCTTGGTGACTGGAATTGG -3'
(R):5'- TACTGTCTGAGTGTCCCAGC -3'

Sequencing Primer
(F):5'- GCAGACTCTGTCCCACAAA -3'
(R):5'- TCTGAGTGTCCCAGCTCAGG -3'

Posted On

2014-08-25