Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Apoa2'

374883

Institutional Source

Beutler Lab

Gene Symbol

Apoa2

Ensembl Gene

ENSMUSG00000005681

Gene Name

apolipoprotein A-II

Synonyms

Apoa-2, Hdl-1, Alp-2, ApoA-II

MMRRC Submission

042476-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4866 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

171052623-171053948 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 171053369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005817] [ENSMUST00000005824] [ENSMUST00000079957] [ENSMUST00000111319] [ENSMUST00000111320] [ENSMUST00000111321] [ENSMUST00000111326] [ENSMUST00000143405] [ENSMUST00000193973] [ENSMUST00000147246] [ENSMUST00000111327] [ENSMUST00000138184]

AlphaFold

P09813

Predicted Effect

probably benign
Transcript: ENSMUST00000005817

SMART Domains

Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	302	7.2e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000005824

SMART Domains

Protein: ENSMUSP00000005824
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	99	4.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079957

SMART Domains

Protein: ENSMUSP00000078875
Gene: ENSMUSG00000058715

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:TCR_zetazeta	21	51	3.7e-19	PFAM
ITAM	62	82	9.62e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111319

SMART Domains

Protein: ENSMUSP00000106951
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	98	2.1e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111320

SMART Domains

Protein: ENSMUSP00000106952
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	99	4.2e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111321

SMART Domains

Protein: ENSMUSP00000106953
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	99	4.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111326

SMART Domains

Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	95	9e-16	PFAM
Pfam:Porin_3	85	268	1.4e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154106

Predicted Effect

probably benign
Transcript: ENSMUST00000143405

Predicted Effect

probably benign
Transcript: ENSMUST00000193973

SMART Domains

Protein: ENSMUSP00000141240
Gene: ENSMUSG00000058715

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:TCR_zetazeta	21	53	4.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147246

SMART Domains

Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	91	5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111327

SMART Domains

Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	302	3.4e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138184

SMART Domains

Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	119	1.5e-20	PFAM

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: This gene encodes a component of high density lipoproteins (HDL). Mice lacking the encoded protein have low HDL-cholesterol levels, smaller HDL particles, increased clearance of triglyceride-rich lipoproteins and insulin hypersensitivity. Transgenic mice overexpressing the encoded protein have elevated levels of HDL-cholesterol and show increased susceptibility to atherosclerosis. Alternative splicing of this gene results in multiple variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous null mutation of this gene results in a reduction of total cholesterol, HDL cholesterol, free fatty acids, insulin, and glucose levels in both the fasted and unfasted states. Strain specific alleles have been associated with varying degrees of amyloidosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Dclre1b	A	T	3: 103,715,412 (GRCm39)	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Katnb1	T	C	8: 95,824,132 (GRCm39)	S471P	possibly damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or56a4	T	C	7: 104,806,514 (GRCm39)	Y125C	possibly damaging	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp592	T	A	7: 80,691,607 (GRCm39)	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably damaging	Het

Other mutations in Apoa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0833:Apoa2	UTSW	1	171,052,948 (GRCm39)	unclassified	probably benign
R0836:Apoa2	UTSW	1	171,052,948 (GRCm39)	unclassified	probably benign
R0945:Apoa2	UTSW	1	171,053,268 (GRCm39)	splice site	probably null
R2230:Apoa2	UTSW	1	171,053,340 (GRCm39)	missense	probably benign	0.00
R7736:Apoa2	UTSW	1	171,053,741 (GRCm39)	missense	probably damaging	0.98
R8548:Apoa2	UTSW	1	171,053,798 (GRCm39)	missense	probably benign	0.05
R9308:Apoa2	UTSW	1	171,053,300 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GCAGTCTACATGCAGAGACTG -3'
(R):5'- ACCCTGATATAGCAAAGCCTG -3'

Sequencing Primer
(F):5'- CAGTCTACATGCAGAGACTGTGATC -3'
(R):5'- ATCAGACTCTGCAGACTGGAGTC -3'

Posted On

2016-03-17