Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Apoa5'

702686

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 #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46179931-46183217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46181719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 265 (D265V)

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 benign
Transcript: ENSMUST00000034584
AA Change: D265V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: D265V

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: D265V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: D265V

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,969,030 (GRCm39)	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Adnp	A	G	2: 168,031,233 (GRCm39)	I26T	possibly damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Asb15	G	A	6: 24,566,298 (GRCm39)	R417H	probably benign	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Bace1	G	T	9: 45,767,282 (GRCm39)		probably benign	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Ces1b	A	C	8: 93,798,583 (GRCm39)	V201G	probably damaging	Het
Clk1	A	G	1: 58,458,882 (GRCm39)	L133S	unknown	Het
Clstn3	G	A	6: 124,433,880 (GRCm39)	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,207,781 (GRCm39)		probably benign	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,702,643 (GRCm39)	V58D	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Enam	A	G	5: 88,640,778 (GRCm39)	M147V	probably benign	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
F13a1	C	T	13: 37,076,910 (GRCm39)	G593D	probably benign	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fat4	C	T	3: 38,942,396 (GRCm39)	R430C	probably damaging	Het
Fhod3	T	C	18: 24,842,832 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ift70a1	A	T	2: 75,811,279 (GRCm39)	V268E	probably benign	Het
Igkv4-72	A	T	6: 69,203,980 (GRCm39)	Y70*	probably null	Het
Kdm1b	A	C	13: 47,217,705 (GRCm39)	N388T	probably benign	Het
Klri2	A	T	6: 129,710,037 (GRCm39)	W188R	probably damaging	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,222,855 (GRCm39)	L265P	probably damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Myo3b	A	C	2: 70,257,305 (GRCm39)	*1334C	probably null	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,490,548 (GRCm39)	M393K	probably damaging	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Otogl	A	T	10: 107,616,917 (GRCm39)	C1787S	probably damaging	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Parp1	A	G	1: 180,415,509 (GRCm39)	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Rmi1	T	C	13: 58,555,853 (GRCm39)	I34T	probably damaging	Het
Rnf220	A	G	4: 117,346,833 (GRCm39)	I193T	probably benign	Het
Rpgrip1l	T	C	8: 92,007,355 (GRCm39)	T412A	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Sptlc1	A	T	13: 53,512,872 (GRCm39)	I162N	probably damaging	Het
Ssrp1	C	A	2: 84,870,606 (GRCm39)		probably benign	Het
Sytl2	A	G	7: 90,034,359 (GRCm39)	N523S	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Thumpd3	T	A	6: 113,043,819 (GRCm39)	F411L	probably damaging	Het
Ttn	A	G	2: 76,768,079 (GRCm39)	W3007R	unknown	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,284,577 (GRCm39)	V99E	probably damaging	Het
Wdr47	T	C	3: 108,525,812 (GRCm39)	F112L	probably benign	Het
Wnk2	A	G	13: 49,235,507 (GRCm39)	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	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
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
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'- CTTGGTGACTGGAATTGGGCAC -3'
(R):5'- TTACTGTCTGAGTGTCCCAGC -3'

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

Posted On

2022-03-25