Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Apoa5'

43719

Institutional Source

Beutler Lab

Gene Symbol

Apoa5

Ensembl Gene

ENSMUSG00000032079

Gene Name

apolipoprotein A-V

Synonyms

1300007O05Rik, RAP3, Apoav

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

46179931-46183217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46181296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 124 (L124S)

Ref Sequence

ENSEMBL: ENSMUSP00000113413 (fasta)

Gene Model

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

AlphaFold

Q8C7G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034584
AA Change: L124S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: L124S

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: L124S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: L124S

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: ENSMUST00000215458

Predicted Effect

probably benign
Transcript: ENSMUST00000214202

Predicted Effect

probably benign
Transcript: ENSMUST00000215187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215484

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,483 (GRCm39)	P19L	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Atp7b	T	C	8: 22,550,011 (GRCm39)	T9A	probably benign	Het
Auh	G	A	13: 53,083,421 (GRCm39)		probably benign	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Card11	T	C	5: 140,894,279 (GRCm39)	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,942,434 (GRCm39)	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,626,047 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,666,236 (GRCm39)		noncoding transcript	Het
Dhx9	C	T	1: 153,348,453 (GRCm39)	V291M	probably benign	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,496,033 (GRCm39)		probably null	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Fat3	T	C	9: 15,877,275 (GRCm39)	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,593,964 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,699,604 (GRCm39)		probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Khdrbs2	A	G	1: 32,658,283 (GRCm39)	D281G	possibly damaging	Het
Krt86	A	T	15: 101,375,283 (GRCm39)	M393L	probably benign	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Nrp1	C	T	8: 129,227,089 (GRCm39)		probably benign	Het
Or11g26	T	A	14: 50,753,596 (GRCm39)	*312K	probably null	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8k33	A	G	2: 86,383,976 (GRCm39)	F164S	probably damaging	Het
Pcdhb13	A	T	18: 37,577,310 (GRCm39)	M563L	probably benign	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Peli2	C	T	14: 48,358,659 (GRCm39)	P16S	possibly damaging	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Pik3c2a	A	T	7: 115,953,307 (GRCm39)	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 110,262,617 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sis	T	G	3: 72,839,427 (GRCm39)	N813T	probably benign	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Vmn2r111	A	G	17: 22,766,990 (GRCm39)	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,451,146 (GRCm39)	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably damaging	Het

Other mutations in Apoa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Apoa5	APN	9	46,181,950 (GRCm39)	missense	probably damaging	0.98
IGL02089:Apoa5	APN	9	46,180,437 (GRCm39)	critical splice donor site	probably null
R1722:Apoa5	UTSW	9	46,181,847 (GRCm39)	nonsense	probably null
R2007:Apoa5	UTSW	9	46,181,665 (GRCm39)	missense	possibly damaging	0.95
R2356:Apoa5	UTSW	9	46,181,341 (GRCm39)	missense	probably damaging	0.98
R3739:Apoa5	UTSW	9	46,180,415 (GRCm39)	missense	probably damaging	1.00
R3835:Apoa5	UTSW	9	46,181,878 (GRCm39)	missense	probably damaging	1.00
R4364:Apoa5	UTSW	9	46,181,827 (GRCm39)	missense	probably damaging	1.00
R4657:Apoa5	UTSW	9	46,181,170 (GRCm39)	missense	probably benign	0.12
R4760:Apoa5	UTSW	9	46,181,593 (GRCm39)	missense	probably damaging	0.97
R5160:Apoa5	UTSW	9	46,181,794 (GRCm39)	missense	probably damaging	0.99
R5523:Apoa5	UTSW	9	46,181,887 (GRCm39)	missense	possibly damaging	0.79
R5915:Apoa5	UTSW	9	46,180,607 (GRCm39)	missense	probably damaging	1.00
R6106:Apoa5	UTSW	9	46,181,931 (GRCm39)	nonsense	probably null
R6849:Apoa5	UTSW	9	46,181,298 (GRCm39)	missense	probably benign	0.03
R7170:Apoa5	UTSW	9	46,181,437 (GRCm39)	missense	probably benign	0.00
R9268:Apoa5	UTSW	9	46,181,719 (GRCm39)	missense	probably benign	0.18
R9403:Apoa5	UTSW	9	46,181,944 (GRCm39)	missense	probably damaging	1.00
R9495:Apoa5	UTSW	9	46,181,944 (GRCm39)	missense	probably damaging	1.00
R9499:Apoa5	UTSW	9	46,181,944 (GRCm39)	missense	probably damaging	1.00
Z1177:Apoa5	UTSW	9	46,180,417 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AAAGGCAGCTTCGAGCAAGACC -3'
(R):5'- AGTCACCAAGCGTTCTGCGTAAG -3'

Sequencing Primer
(F):5'- CCTAGAAAAGCTGGGACCCTTG -3'
(R):5'- TTCTGCGTAAGGGTGGAAGAG -3'

Posted On

2013-05-29