Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Slc27a2'

168115

Institutional Source

Beutler Lab

Gene Symbol

Slc27a2

Ensembl Gene

ENSMUSG00000027359

Gene Name

solute carrier family 27 (fatty acid transporter), member 2

Synonyms

Vlac, VLCS, FATP2, Vlacs, FATP2, ACSVL1

MMRRC Submission

039556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1509 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

126394944-126430163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126395234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 54 (T54A)

Ref Sequence

ENSEMBL: ENSMUSP00000057595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061491] [ENSMUST00000141482]

AlphaFold

O35488

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061491
AA Change: T54A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: T54A

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	41	53	N/A	INTRINSIC
Pfam:AMP-binding	59	488	1.4e-71	PFAM
Pfam:AMP-binding_C	496	572	1.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126249

Predicted Effect

probably benign
Transcript: ENSMUST00000141482

SMART Domains

Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	7	256	6.2e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180898

Meta Mutation Damage Score

0.2789

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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 isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutant mice are viable and show no gross morphological abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,340,766 (GRCm39)	S132P	probably benign	Het
AC153895.1	T	C	6: 50,020,451 (GRCm39)	R54G	unknown	Het
Acot12	G	A	13: 91,919,994 (GRCm39)		probably null	Het
Adhfe1	T	A	1: 9,623,671 (GRCm39)	D98E	probably benign	Het
Ago2	A	G	15: 72,988,213 (GRCm39)	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,545,927 (GRCm39)	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,592,342 (GRCm39)	A294D	probably damaging	Het
Bod1l	C	G	5: 41,976,883 (GRCm39)	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,336,844 (GRCm39)	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap52	C	T	11: 67,829,819 (GRCm39)	V317I	probably benign	Het
Cgn	A	T	3: 94,681,568 (GRCm39)	L509Q	probably benign	Het
Crb2	A	G	2: 37,676,631 (GRCm39)	H204R	probably benign	Het
Cspg4b	A	G	13: 113,504,790 (GRCm39)	N431S	probably damaging	Het
Ddx39a	G	A	8: 84,446,527 (GRCm39)	V99M	probably damaging	Het
Dis3l2	T	A	1: 86,948,808 (GRCm39)	C582S	possibly damaging	Het
Dmbt1	G	A	7: 130,676,061 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,004,425 (GRCm39)	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,384,084 (GRCm39)	E655G	probably damaging	Het
Epha4	T	C	1: 77,357,523 (GRCm39)	Y825C	probably damaging	Het
Esp36	T	A	17: 38,728,173 (GRCm39)	N36I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fem1c	A	G	18: 46,657,280 (GRCm39)	S145P	probably benign	Het
Galnt13	T	C	2: 54,623,094 (GRCm39)	I80T	probably damaging	Het
Gm5698	T	C	1: 31,016,728 (GRCm39)	T108A	probably benign	Het
Hipk3	A	G	2: 104,271,607 (GRCm39)	S442P	probably benign	Het
Hmcn2	T	A	2: 31,204,491 (GRCm39)	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,238,552 (GRCm39)		probably benign	Het
Ide	A	G	19: 37,262,603 (GRCm39)		probably null	Het
Ifnar1	C	A	16: 91,300,384 (GRCm39)	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,228,049 (GRCm39)	I485F	probably benign	Het
Jakmip3	C	T	7: 138,629,505 (GRCm39)	R549W	possibly damaging	Het
Lrrc36	A	G	8: 106,187,761 (GRCm39)	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,817,390 (GRCm39)	H122Q	probably benign	Het
Macf1	C	A	4: 123,577,802 (GRCm39)	V61L	possibly damaging	Het
Map1b	T	C	13: 99,568,036 (GRCm39)	T1562A	unknown	Het
Map3k20	A	T	2: 72,194,968 (GRCm39)		probably benign	Het
Mroh8	A	G	2: 157,075,125 (GRCm39)	V457A	probably benign	Het
Mrpl40	T	A	16: 18,694,159 (GRCm39)		probably null	Het
Ms4a10	C	T	19: 10,941,472 (GRCm39)	V166I	probably benign	Het
Mycl	A	G	4: 122,894,100 (GRCm39)	D300G	probably damaging	Het
Naca	T	A	10: 127,879,266 (GRCm39)		probably benign	Het
Ncoa4	T	C	14: 31,895,391 (GRCm39)	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,810,486 (GRCm39)	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,144,649 (GRCm39)	K301N	probably benign	Het
Or1af1	A	G	2: 37,109,966 (GRCm39)	H155R	probably damaging	Het
Or52ae9	A	T	7: 103,390,243 (GRCm39)	M68K	probably benign	Het
Or5b99	T	A	19: 12,976,815 (GRCm39)	I155N	possibly damaging	Het
Panx1	A	T	9: 14,921,341 (GRCm39)	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 110,367,402 (GRCm39)	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,638,039 (GRCm39)	H143Q	possibly damaging	Het
Potefam1	A	T	2: 111,048,972 (GRCm39)	M269K	probably benign	Het
Prdm12	G	A	2: 31,544,186 (GRCm39)	R263H	probably damaging	Het
Prkdc	A	C	16: 15,549,430 (GRCm39)	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,643,051 (GRCm39)	S583T	probably damaging	Het
Rnf157	T	A	11: 116,237,921 (GRCm39)	T567S	probably benign	Het
Rp1	T	C	1: 4,417,917 (GRCm39)	K1065R	probably damaging	Het
Rp1	A	G	1: 4,418,760 (GRCm39)	I784T	probably benign	Het
Rps10	A	C	17: 27,850,182 (GRCm39)	F150V	probably benign	Het
Rrp12	A	T	19: 41,870,639 (GRCm39)	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,562,535 (GRCm39)	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,904,864 (GRCm39)	Q57K	probably benign	Het
Slc9a9	T	A	9: 95,111,011 (GRCm39)	S610T	probably benign	Het
Smc1b	A	T	15: 84,970,335 (GRCm39)	S973T	probably benign	Het
Smc6	G	A	12: 11,329,734 (GRCm39)	S164N	possibly damaging	Het
Sp1	A	G	15: 102,316,314 (GRCm39)	T32A	possibly damaging	Het
Spen	T	C	4: 141,202,946 (GRCm39)	I1894V	probably benign	Het
Spen	T	C	4: 141,203,011 (GRCm39)	K1872R	possibly damaging	Het
Stab1	C	A	14: 30,873,541 (GRCm39)		probably benign	Het
Taar7d	T	G	10: 23,904,102 (GRCm39)	F328C	probably damaging	Het
Ticam1	A	T	17: 56,578,113 (GRCm39)	S327R	probably benign	Het
Tmem248	C	T	5: 130,258,295 (GRCm39)		probably benign	Het
Tom1	T	C	8: 75,781,259 (GRCm39)	S83P	probably damaging	Het
Txk	T	A	5: 72,856,453 (GRCm39)	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,279,237 (GRCm39)	C179S	probably benign	Het
Utrn	T	C	10: 12,331,185 (GRCm39)	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,862 (GRCm39)	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,623,881 (GRCm39)	Y146*	probably null	Het
Wdr1	G	A	5: 38,697,905 (GRCm39)	T220M	probably damaging	Het
Xpo7	T	C	14: 70,915,582 (GRCm39)	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zeb1os1	A	G	18: 5,583,794 (GRCm39)		noncoding transcript	Het
Zfp462	T	A	4: 55,007,667 (GRCm39)	D35E	probably damaging	Het
Zfp467	A	G	6: 48,415,621 (GRCm39)	S344P	possibly damaging	Het
Zfpm1	A	T	8: 123,034,285 (GRCm39)	D73V	possibly damaging	Het

Other mutations in Slc27a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc27a2	APN	2	126,422,837 (GRCm39)	missense	probably damaging	1.00
IGL01907:Slc27a2	APN	2	126,429,794 (GRCm39)	missense	probably benign	0.02
IGL02185:Slc27a2	APN	2	126,409,736 (GRCm39)	missense	probably damaging	0.99
IGL02363:Slc27a2	APN	2	126,420,870 (GRCm39)	missense	possibly damaging	0.58
IGL02451:Slc27a2	APN	2	126,420,912 (GRCm39)	missense	probably benign	0.00
IGL02486:Slc27a2	APN	2	126,395,270 (GRCm39)	missense	probably benign	0.00
IGL03217:Slc27a2	APN	2	126,428,172 (GRCm39)	missense	possibly damaging	0.80
IGL03287:Slc27a2	APN	2	126,395,312 (GRCm39)	missense	probably damaging	1.00
IGL03291:Slc27a2	APN	2	126,406,670 (GRCm39)	missense	probably benign	0.14
baseboard	UTSW	2	126,409,700 (GRCm39)	missense	probably damaging	0.97
B6584:Slc27a2	UTSW	2	126,403,562 (GRCm39)	missense	possibly damaging	0.94
R0021:Slc27a2	UTSW	2	126,409,806 (GRCm39)	splice site	probably benign
R0647:Slc27a2	UTSW	2	126,429,836 (GRCm39)	missense	probably benign	0.00
R1326:Slc27a2	UTSW	2	126,406,690 (GRCm39)	missense	probably damaging	1.00
R1907:Slc27a2	UTSW	2	126,428,262 (GRCm39)	missense	probably benign	0.13
R2012:Slc27a2	UTSW	2	126,395,535 (GRCm39)	missense	probably damaging	0.98
R2217:Slc27a2	UTSW	2	126,409,672 (GRCm39)	missense	probably damaging	0.99
R3769:Slc27a2	UTSW	2	126,409,718 (GRCm39)	missense	possibly damaging	0.90
R3770:Slc27a2	UTSW	2	126,409,718 (GRCm39)	missense	possibly damaging	0.90
R5244:Slc27a2	UTSW	2	126,420,775 (GRCm39)	missense	probably benign	0.00
R5459:Slc27a2	UTSW	2	126,422,912 (GRCm39)	missense	probably damaging	0.98
R5582:Slc27a2	UTSW	2	126,406,610 (GRCm39)	missense	probably damaging	1.00
R5606:Slc27a2	UTSW	2	126,406,610 (GRCm39)	missense	probably damaging	1.00
R5655:Slc27a2	UTSW	2	126,420,859 (GRCm39)	missense	probably damaging	1.00
R5680:Slc27a2	UTSW	2	126,403,530 (GRCm39)	missense	probably benign	0.02
R5747:Slc27a2	UTSW	2	126,406,658 (GRCm39)	missense	probably benign
R6346:Slc27a2	UTSW	2	126,429,800 (GRCm39)	missense	probably damaging	0.97
R7042:Slc27a2	UTSW	2	126,409,700 (GRCm39)	missense	probably damaging	0.97
R7297:Slc27a2	UTSW	2	126,420,866 (GRCm39)	missense	probably damaging	0.99
R7323:Slc27a2	UTSW	2	126,395,124 (GRCm39)	missense	probably benign	0.38
R7391:Slc27a2	UTSW	2	126,395,082 (GRCm39)	missense	unknown
R8247:Slc27a2	UTSW	2	126,395,515 (GRCm39)	missense	probably benign	0.01
R8836:Slc27a2	UTSW	2	126,416,656 (GRCm39)	missense
R9192:Slc27a2	UTSW	2	126,429,807 (GRCm39)	missense	probably damaging	0.97
R9526:Slc27a2	UTSW	2	126,429,846 (GRCm39)	missense	probably damaging	0.97
R9599:Slc27a2	UTSW	2	126,420,904 (GRCm39)	missense	probably damaging	1.00
R9614:Slc27a2	UTSW	2	126,409,736 (GRCm39)	missense	probably damaging	0.99
RF008:Slc27a2	UTSW	2	126,395,175 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGATCTCATCTGACCCCAGACACTG -3'
(R):5'- CTCATTGCCCATGAAGAGGGCTAC -3'

Sequencing Primer
(F):5'- GACACTGAACACAAGTGCTG -3'
(R):5'- TGAAGAGGGCTACGCAATCC -3'

Posted On

2014-04-13