Mutagenetix > Incidental Mutation

Incidental Mutation 'R9016:Acaa2'

686037

Institutional Source

Beutler Lab

Gene Symbol

Acaa2

Ensembl Gene

ENSMUSG00000036880

Gene Name

acetyl-CoA acyltransferase 2

Synonyms

0610011L04Rik, D18Ertd240e

MMRRC Submission

068846-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R9016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74912283-74939278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74932154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 264 (S264R)

Ref Sequence

ENSEMBL: ENSMUSP00000037348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041053]

AlphaFold

Q8BWT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041053
AA Change: S264R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037348
Gene: ENSMUSG00000036880
AA Change: S264R

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	7	266	1.4e-95	PFAM
Pfam:Thiolase_C	273	395	9e-52	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,694,188 (GRCm39)		probably null	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Apob	C	T	12: 8,035,408 (GRCm39)		silent	Het
Atg2a	G	C	19: 6,300,111 (GRCm39)	A640P	probably damaging	Het
AW209491	G	A	13: 14,812,193 (GRCm39)	V349M	probably damaging	Het
Bmpr2	C	T	1: 59,854,460 (GRCm39)	T103I	probably damaging	Het
Btaf1	A	C	19: 36,971,705 (GRCm39)	E1231D	probably benign	Het
Btbd7	T	C	12: 102,751,417 (GRCm39)	R1116G	probably damaging	Het
Catsperg1	A	T	7: 28,891,162 (GRCm39)	M627K	probably benign	Het
Cdk7	G	A	13: 100,854,126 (GRCm39)	T121I	probably benign	Het
Csmd3	T	A	15: 47,522,438 (GRCm39)	T1833S		Het
Dapk3	A	T	10: 81,028,266 (GRCm39)	R279W	probably damaging	Het
Dennd2b	A	C	7: 109,139,642 (GRCm39)	D645E	possibly damaging	Het
Dnah9	T	C	11: 65,998,856 (GRCm39)	E1064G	probably damaging	Het
Dner	T	C	1: 84,673,226 (GRCm39)	E75G	probably benign	Het
Dnmt1	T	C	9: 20,847,855 (GRCm39)	E229G	possibly damaging	Het
Fam171a1	G	A	2: 3,227,434 (GRCm39)	A856T	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fen1	A	T	19: 10,178,306 (GRCm39)	V46D	probably damaging	Het
Ffar3	T	C	7: 30,554,454 (GRCm39)	R289G	probably damaging	Het
Fhod3	G	A	18: 25,243,136 (GRCm39)	E1165K	possibly damaging	Het
Fras1	A	T	5: 96,783,923 (GRCm39)	H809L	probably damaging	Het
Gbp7	A	T	3: 142,249,870 (GRCm39)	E447V	probably benign	Het
Gja8	T	C	3: 96,827,521 (GRCm39)	D47G	probably damaging	Het
Gm5795	A	G	14: 14,883,574 (GRCm39)	K144E	probably benign	Het
Gm7298	A	C	6: 121,758,800 (GRCm39)	Q1139H	possibly damaging	Het
Gpa33	A	T	1: 165,992,730 (GRCm39)	Y281F	probably damaging	Het
H2-M10.5	G	A	17: 37,084,226 (GRCm39)	E63K	possibly damaging	Het
Hgf	T	C	5: 16,823,956 (GRCm39)	W718R	probably damaging	Het
Ifna5	C	G	4: 88,754,046 (GRCm39)	D95E	probably benign	Het
Ifnar2	T	C	16: 91,201,073 (GRCm39)	L438P	possibly damaging	Het
Ints1	T	C	5: 139,744,326 (GRCm39)	T1479A	probably benign	Het
Kif1a	C	T	1: 92,953,395 (GRCm39)	R1263H	probably damaging	Het
Ltbp2	T	C	12: 84,856,467 (GRCm39)	T686A	probably benign	Het
Med12l	A	T	3: 59,163,294 (GRCm39)	E1307V	probably damaging	Het
Mtcl1	T	A	17: 66,651,062 (GRCm39)	T1468S	probably damaging	Het
Myo9a	C	T	9: 59,775,427 (GRCm39)	Q1013*	probably null	Het
Nckap5	T	C	1: 126,623,491 (GRCm39)	M1V	probably null	Het
Nos3	G	T	5: 24,588,639 (GRCm39)	V1122F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Odad1	T	G	7: 45,585,988 (GRCm39)	C128W	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or52n4	A	T	7: 104,293,828 (GRCm39)	C250*	probably null	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
P2rx6	T	A	16: 17,385,304 (GRCm39)	H132Q	possibly damaging	Het
Pakap	T	C	4: 57,637,857 (GRCm39)	C12R	unknown	Het
Pde6b	T	A	5: 108,536,592 (GRCm39)	M96K	possibly damaging	Het
Polq	T	A	16: 36,843,159 (GRCm39)	L231Q	probably damaging	Het
Pramel23	T	C	4: 143,423,899 (GRCm39)	I297V	possibly damaging	Het
Prrc2a	G	A	17: 35,378,844 (GRCm39)	T399I	unknown	Het
Rapsn	A	G	2: 90,867,172 (GRCm39)	D158G	probably damaging	Het
Rcor1	T	A	12: 111,047,933 (GRCm39)		probably benign	Het
Sema4d	G	T	13: 51,867,794 (GRCm39)	P186T	probably damaging	Het
Skic2	A	C	17: 35,063,640 (GRCm39)	L601R	probably damaging	Het
Slc4a7	G	A	14: 14,773,241 (GRCm38)	R737Q	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Sox15	T	G	11: 69,546,529 (GRCm39)	Y111D	probably damaging	Het
Spen	C	T	4: 141,200,938 (GRCm39)	C2563Y	probably damaging	Het
Taf8	A	T	17: 47,807,527 (GRCm39)	D153E	probably damaging	Het
Tet3	G	A	6: 83,345,253 (GRCm39)	A1728V	probably damaging	Het
Tmem232	A	T	17: 65,737,778 (GRCm39)	D427E	probably benign	Het
Tmem53	T	C	4: 117,125,451 (GRCm39)	I188T	probably benign	Het
Tnc	T	G	4: 63,935,331 (GRCm39)	D535A	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Tnik	G	A	3: 28,692,544 (GRCm39)	G867R	probably damaging	Het
Uba3	A	T	6: 97,162,694 (GRCm39)	C367*	probably null	Het
Vmn1r235	G	T	17: 21,481,969 (GRCm39)	S98I	possibly damaging	Het
Vmn2r15	T	C	5: 109,442,109 (GRCm39)	E108G	probably benign	Het
Xrra1	T	A	7: 99,525,462 (GRCm39)	I127N	probably benign	Het
Zc3h18	G	A	8: 123,129,963 (GRCm39)	R447Q	unknown	Het
Zcwpw1	C	A	5: 137,798,340 (GRCm39)	P179Q	probably damaging	Het
Zfp526	C	T	7: 24,925,264 (GRCm39)	H508Y	probably damaging	Het
Zfp583	T	C	7: 6,320,404 (GRCm39)	K203E	probably benign	Het
Zfp979	A	G	4: 147,697,504 (GRCm39)	C402R	possibly damaging	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	Het

Other mutations in Acaa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Acaa2	APN	18	74,926,449 (GRCm39)	missense	probably damaging	1.00
IGL01413:Acaa2	APN	18	74,939,015 (GRCm39)	utr 3 prime	probably benign
R0129:Acaa2	UTSW	18	74,920,265 (GRCm39)	missense	probably damaging	0.98
R0615:Acaa2	UTSW	18	74,931,517 (GRCm39)	missense	probably benign	0.40
R0941:Acaa2	UTSW	18	74,931,414 (GRCm39)	missense	probably benign	0.00
R1432:Acaa2	UTSW	18	74,920,198 (GRCm39)	missense	probably damaging	0.99
R1911:Acaa2	UTSW	18	74,925,483 (GRCm39)	missense	probably benign	0.19
R2156:Acaa2	UTSW	18	74,926,476 (GRCm39)	critical splice donor site	probably null
R5620:Acaa2	UTSW	18	74,938,945 (GRCm39)	missense	possibly damaging	0.91
R5880:Acaa2	UTSW	18	74,937,072 (GRCm39)	missense	probably damaging	1.00
R5943:Acaa2	UTSW	18	74,925,453 (GRCm39)	missense	probably damaging	1.00
R5966:Acaa2	UTSW	18	74,937,223 (GRCm39)	missense	probably damaging	1.00
R6945:Acaa2	UTSW	18	74,926,380 (GRCm39)	missense	probably benign	0.00
R7378:Acaa2	UTSW	18	74,938,943 (GRCm39)	missense	probably benign	0.12
R7557:Acaa2	UTSW	18	74,928,230 (GRCm39)	missense	possibly damaging	0.82
R7625:Acaa2	UTSW	18	74,937,213 (GRCm39)	missense	possibly damaging	0.90
R7786:Acaa2	UTSW	18	74,925,518 (GRCm39)	missense	probably damaging	1.00
R8164:Acaa2	UTSW	18	74,928,318 (GRCm39)	nonsense	probably null
R9605:Acaa2	UTSW	18	74,932,230 (GRCm39)	missense	probably benign	0.01
X0018:Acaa2	UTSW	18	74,925,480 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGGTGAAGTTTTACCCCATGC -3'
(R):5'- TACTTTCCCAGGACTCTGAATG -3'

Sequencing Primer
(F):5'- GCTTAAGTGATTTCTGAAGCCC -3'
(R):5'- TTCCCAGGACTCTGAATGTCTAAAC -3'

Posted On

2021-10-11