Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Slc27a2'

723433

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126394944-126430163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126420904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 465 (D465G)

Ref Sequence

ENSEMBL: ENSMUSP00000057595 (fasta)

Gene Model

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

AlphaFold

O35488

Predicted Effect

probably damaging
Transcript: ENSMUST00000061491
AA Change: D465G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: D465G

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

unknown
Transcript: ENSMUST00000141482
AA Change: D329G

SMART Domains

Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359
AA Change: D329G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,267 (GRCm39)	N1152S	probably benign	Het
Abcb6	A	T	1: 75,151,372 (GRCm39)	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,030,745 (GRCm39)	P168S	probably damaging	Het
Adam12	A	G	7: 133,566,454 (GRCm39)	V332A	probably damaging	Het
Adam23	T	C	1: 63,620,359 (GRCm39)	I805T	probably benign	Het
Adar	A	G	3: 89,654,516 (GRCm39)	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,107,912 (GRCm39)	T319A	probably damaging	Het
Apcdd1	T	A	18: 63,083,269 (GRCm39)		probably null	Het
Arhgef18	C	A	8: 3,482,718 (GRCm39)	A141E	possibly damaging	Het
Bub3	A	G	7: 131,170,428 (GRCm39)	T317A	probably benign	Het
Ccdc102a	A	G	8: 95,639,901 (GRCm39)	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,269,265 (GRCm39)	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,219,381 (GRCm39)	E125G	probably damaging	Het
Ccdc68	A	G	18: 70,093,492 (GRCm39)	E233G	probably damaging	Het
Cep192	A	G	18: 67,968,525 (GRCm39)	D973G	probably benign	Het
Cox5b	T	A	1: 36,730,759 (GRCm39)	M31K	probably benign	Het
Cse1l	A	G	2: 166,783,386 (GRCm39)	N780S	probably benign	Het
Cyfip1	T	C	7: 55,563,277 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,607,770 (GRCm39)	P133S	probably benign	Het
Dcp1a	A	G	14: 30,241,497 (GRCm39)	M436V	probably benign	Het
Dcst1	G	T	3: 89,265,075 (GRCm39)	Y258*	probably null	Het
Dhx30	T	C	9: 109,914,518 (GRCm39)	E993G	possibly damaging	Het
Disc1	A	T	8: 125,814,261 (GRCm39)	M42L	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Entrep3	A	G	3: 89,094,099 (GRCm39)	D304G	possibly damaging	Het
Erbb2	A	T	11: 98,318,216 (GRCm39)	D484V	probably benign	Het
Fxr2	A	G	11: 69,543,469 (GRCm39)	N657D	probably benign	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gdap2	A	T	3: 100,078,264 (GRCm39)	N76I	probably damaging	Het
Gm20939	A	G	17: 95,184,666 (GRCm39)	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,540,459 (GRCm39)	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,217,098 (GRCm39)	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ighv1-62-1	T	C	12: 115,350,601 (GRCm39)	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,895,211 (GRCm39)	F418L	probably benign	Het
Lin54	C	A	5: 100,598,546 (GRCm39)	R593L	probably damaging	Het
Lrp1	T	A	10: 127,410,246 (GRCm39)	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,999,494 (GRCm39)	S287R	probably benign	Het
Mab21l4	T	C	1: 93,087,568 (GRCm39)	E95G	possibly damaging	Het
Madd	G	A	2: 91,006,026 (GRCm39)	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 25,118,124 (GRCm39)	R1281L	probably damaging	Het
Masp1	T	A	16: 23,271,698 (GRCm39)	T618S	probably benign	Het
Mgat5	A	G	1: 127,248,445 (GRCm39)	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl39	A	G	16: 84,527,359 (GRCm39)	F176S	probably damaging	Het
Myt1l	T	C	12: 29,943,441 (GRCm39)	I953T	unknown	Het
Nedd4l	A	G	18: 65,343,400 (GRCm39)	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,664,855 (GRCm39)	V455D	probably damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or10ak8	C	T	4: 118,773,851 (GRCm39)	R271Q	probably benign	Het
Patz1	A	G	11: 3,240,720 (GRCm39)	N36S	probably benign	Het
Peg3	T	A	7: 6,714,723 (GRCm39)	K166N	probably damaging	Het
Pes1	T	A	11: 3,926,118 (GRCm39)	D302E	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,054,972 (GRCm39)	T627M	unknown	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Rnf20	T	C	4: 49,638,751 (GRCm39)	V191A	probably benign	Het
Scn8a	A	T	15: 100,911,172 (GRCm39)	K864M	probably damaging	Het
Sema3c	T	C	5: 17,919,452 (GRCm39)		probably null	Het
Slc24a4	C	T	12: 102,097,779 (GRCm39)	T30I	probably benign	Het
Snrnp48	T	C	13: 38,393,920 (GRCm39)	M75T	probably benign	Het
Srgap2	A	G	1: 131,272,164 (GRCm39)	S41P		Het
St3gal5	A	G	6: 72,130,580 (GRCm39)	T391A	probably benign	Het
Stkld1	T	C	2: 26,843,297 (GRCm39)	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,502,701 (GRCm39)	M1074K	probably benign	Het
Tent2	G	T	13: 93,322,821 (GRCm39)	Q43K	probably benign	Het
Tpsb2	T	A	17: 25,586,077 (GRCm39)	Y98*	probably null	Het
Trav6d-3	G	A	14: 52,964,144 (GRCm39)	D36N	probably benign	Het
Trim16	A	G	11: 62,731,644 (GRCm39)	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,457,458 (GRCm39)	D310G	probably benign	Het
Ubox5	A	G	2: 130,441,835 (GRCm39)	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,478,457 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,804,941 (GRCm39)	D57G	probably damaging	Het
Wdfy4	T	C	14: 32,855,428 (GRCm39)	T729A		Het
Wdr81	A	T	11: 75,344,349 (GRCm39)	M306K	probably benign	Het
Zfp62	A	G	11: 49,106,542 (GRCm39)	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,636,763 (GRCm39)	K1316E	probably 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
R1509:Slc27a2	UTSW	2	126,395,234 (GRCm39)	missense	possibly damaging	0.95
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
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'- ATAGCCAACGTATTGCCAGC -3'
(R):5'- AGATGGCCTGCCCTTTATTTTG -3'

Sequencing Primer
(F):5'- GCGGGCCCTCAATAAGAC -3'
(R):5'- TGATTTCCGCTGTAGAGAGAGAC -3'

Posted On

2022-08-09