Mutagenetix > Incidental Mutation

Incidental Mutation 'R8548:Apoa2'

659722

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

068513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171052623-171053948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171053798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 91 (M91K)

Ref Sequence

ENSEMBL: ENSMUSP00000106953 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000005824
AA Change: M91K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000005824
Gene: ENSMUSG00000005681
AA Change: M91K

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 benign
Transcript: ENSMUST00000111319
AA Change: M91K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106951
Gene: ENSMUSG00000005681
AA Change: M91K

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 benign
Transcript: ENSMUST00000111320
AA Change: M91K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106952
Gene: ENSMUSG00000005681
AA Change: M91K

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: ENSMUST00000111321
AA Change: M91K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106953
Gene: ENSMUSG00000005681
AA Change: M91K

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143405

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	T	5: 121,658,165 (GRCm39)	L376Q	probably damaging	Het
Akirin1	A	G	4: 123,631,831 (GRCm39)	M179T	possibly damaging	Het
Ap5b1	G	T	19: 5,621,123 (GRCm39)	V848L	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cdc20	A	C	4: 118,293,535 (GRCm39)	S160A	possibly damaging	Het
Cftr	G	T	6: 18,273,698 (GRCm39)	V839L	possibly damaging	Het
Ctf1	A	T	7: 127,316,564 (GRCm39)	H171L	probably benign	Het
Dmac2	T	A	7: 25,324,217 (GRCm39)	M225K	probably damaging	Het
Dmbx1	A	T	4: 115,777,512 (GRCm39)	V112E	probably damaging	Het
Eloa	T	C	4: 135,732,988 (GRCm39)	K754R	probably damaging	Het
Ern2	G	A	7: 121,777,062 (GRCm39)	T286I	probably damaging	Het
Fam135b	T	C	15: 71,334,659 (GRCm39)	D845G	probably damaging	Het
Fbxl6	T	A	15: 76,421,542 (GRCm39)	M232L	possibly damaging	Het
Gpr171	A	T	3: 59,005,400 (GRCm39)	I125K	probably damaging	Het
Hoxa2	G	A	6: 52,140,098 (GRCm39)	T296I	probably damaging	Het
Hspa8	A	G	9: 40,713,767 (GRCm39)	M87V	probably benign	Het
Ilkap	G	T	1: 91,318,882 (GRCm39)	D31E	possibly damaging	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Macc1	T	A	12: 119,414,091 (GRCm39)	S756T	probably benign	Het
Map2	A	G	1: 66,452,499 (GRCm39)	D545G	probably damaging	Het
Mapkbp1	A	G	2: 119,854,572 (GRCm39)	N1390D	probably benign	Het
Mgat5	G	A	1: 127,248,409 (GRCm39)	V104M	possibly damaging	Het
Myoz2	T	A	3: 122,827,916 (GRCm39)	M1L	possibly damaging	Het
Nmt1	A	G	11: 102,934,052 (GRCm39)	K64E	possibly damaging	Het
Nr6a1	C	A	2: 38,619,550 (GRCm39)	Q448H	probably damaging	Het
Nr6a1	T	G	2: 38,619,551 (GRCm39)	Q448P	probably damaging	Het
Odf2	T	C	2: 29,783,526 (GRCm39)		probably null	Het
Or8g37	T	A	9: 39,731,537 (GRCm39)	C201S	probably benign	Het
Osbpl6	A	G	2: 76,409,566 (GRCm39)	N476S	possibly damaging	Het
Pclo	A	G	5: 14,732,268 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,934,558 (GRCm39)	D1792N	probably damaging	Het
Prdm11	C	T	2: 92,843,103 (GRCm39)	V119M	probably damaging	Het
Prss23	A	G	7: 89,159,416 (GRCm39)	F218L	probably benign	Het
Rflnb	A	G	11: 75,913,047 (GRCm39)	Y114H	probably damaging	Het
Skor2	T	A	18: 76,946,581 (GRCm39)	I101N	unknown	Het
Sp8	A	C	12: 118,812,910 (GRCm39)	Y255S	possibly damaging	Het
Srfbp1	G	A	18: 52,621,463 (GRCm39)	V175I	probably benign	Het
Stxbp5	C	T	10: 9,693,050 (GRCm39)	D359N	probably null	Het
Thnsl1	A	G	2: 21,217,733 (GRCm39)	I496V	possibly damaging	Het
Usp32	G	A	11: 84,908,653 (GRCm39)	P1018S	possibly damaging	Het
Usp7	A	T	16: 8,529,939 (GRCm39)	V142E	possibly 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
R4866:Apoa2	UTSW	1	171,053,369 (GRCm39)	critical splice donor site	probably null
R7736:Apoa2	UTSW	1	171,053,741 (GRCm39)	missense	probably damaging	0.98
R9308:Apoa2	UTSW	1	171,053,300 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TCTGATCCTCTGCTGCATGG -3'
(R):5'- AGAGGCACCTACTCTGTCAC -3'

Sequencing Primer
(F):5'- CAGGCTTTGCTATATCAGGGTATACC -3'
(R):5'- TCCCCATGATACCAAAACTTGTCTC -3'

Posted On

2021-01-18