Mutagenetix > Incidental Mutation

Incidental Mutation 'R9499:Apoa5'

717433

Institutional Source

Beutler Lab

Gene Symbol

Apoa5

Ensembl Gene

ENSMUSG00000032079

Gene Name

apolipoprotein A-V

Synonyms

1300007O05Rik, RAP3, Apoav

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46179931-46183217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 46181944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 340 (R340P)

Ref Sequence

ENSEMBL: ENSMUSP00000034584 (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: R340P

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

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: R340P

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: R340P

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

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: R340P

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,028,329 (GRCm38)	I20T	possibly damaging	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Arhgef17	T	C	7: 100,526,102 (GRCm39)	M851V	possibly damaging	Het
Arhgef5	A	T	6: 43,260,940 (GRCm39)	H1455L		Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Dnaaf11	T	C	15: 66,361,483 (GRCm39)	E6G	probably damaging	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm14401	C	T	2: 176,778,337 (GRCm39)	A141V	probably benign	Het
Gm14496	A	G	2: 181,638,179 (GRCm39)	K418E	probably benign	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Inpp5f	A	T	7: 128,295,437 (GRCm39)	I744F	possibly damaging	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mbl2	G	A	19: 30,216,664 (GRCm39)	A159T	probably damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mtor	C	T	4: 148,599,397 (GRCm39)	R1482C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Patl1	T	A	19: 11,897,728 (GRCm39)	M105K	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Plin1	T	C	7: 79,372,544 (GRCm39)	N343D	probably benign	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Rexo5	A	G	7: 119,404,480 (GRCm39)	E192G	probably damaging	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Slu7	G	A	11: 43,329,095 (GRCm39)	V106I	probably benign	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Sult2a8	A	C	7: 14,157,487 (GRCm39)	V116G	probably damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r24	T	A	6: 57,933,150 (GRCm39)	I123F	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,584 (GRCm39)	N355Y	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp710	A	G	7: 79,731,621 (GRCm39)	E266G	probably damaging	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zscan4c	T	C	7: 10,740,853 (GRCm39)	V124A	probably benign	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
R0046:Apoa5	UTSW	9	46,181,296 (GRCm39)	missense	probably damaging	1.00
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
Z1177:Apoa5	UTSW	9	46,180,417 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGGCTTTTCGGCATGACAC -3'
(R):5'- GAGTGTAATGCCCCTGAGTAGG -3'

Sequencing Primer
(F):5'- ATGACACCTACCTGCAGATTGCTG -3'
(R):5'- TTGGGACAGCAGCACCTTTG -3'

Posted On

2022-07-18