Incidental Mutation 'R5582:Slc27a2'
ID 438488
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 043136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5582 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126394944-126430163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126406610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 98 (A98V)
Ref Sequence ENSEMBL: ENSMUSP00000117145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061491] [ENSMUST00000141482]
AlphaFold O35488
Predicted Effect probably damaging
Transcript: ENSMUST00000061491
AA Change: A234V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: A234V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000141482
AA Change: A98V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359
AA Change: A98V

DomainStartEndE-ValueType
Pfam:AMP-binding 7 256 6.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150947
Meta Mutation Damage Score 0.5397 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (61/62)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,586,639 (GRCm39) probably null Het
Agxt2 A G 15: 10,399,245 (GRCm39) D444G probably damaging Het
Aldh1b1 G T 4: 45,802,750 (GRCm39) R96L probably damaging Het
Ank2 T C 3: 126,739,954 (GRCm39) probably benign Het
Apob A G 12: 8,060,788 (GRCm39) Y3090C probably damaging Het
Bbx A G 16: 50,043,719 (GRCm39) S647P probably damaging Het
Brinp2 T C 1: 158,076,979 (GRCm39) Y372C probably damaging Het
Btaf1 T C 19: 36,965,573 (GRCm39) probably null Het
Cdk5rap1 T A 2: 154,187,894 (GRCm39) E477D probably benign Het
Cfap65 G A 1: 74,946,677 (GRCm39) probably benign Het
Chdh A G 14: 29,758,816 (GRCm39) Y587C probably damaging Het
Chek2 T C 5: 111,015,901 (GRCm39) V472A probably damaging Het
Clasrp A C 7: 19,320,781 (GRCm39) I326S probably damaging Het
Clic6 A T 16: 92,296,342 (GRCm39) Q334L possibly damaging Het
Cyp2d11 A T 15: 82,276,319 (GRCm39) probably null Het
Entpd7 T C 19: 43,693,433 (GRCm39) I171T probably damaging Het
Fosl1 T C 19: 5,505,295 (GRCm39) probably benign Het
Gm6124 A G 7: 38,869,622 (GRCm39) noncoding transcript Het
H3f3a A T 1: 180,637,650 (GRCm39) probably benign Het
Hs1bp3 AGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGGAGGAGGAGG 12: 8,374,048 (GRCm39) probably benign Het
Idh2 CCAGGGC CC 7: 79,748,087 (GRCm39) probably null Het
Igkv3-7 A G 6: 70,584,990 (GRCm39) Y110C probably damaging Het
Ints9 C T 14: 65,266,345 (GRCm39) T399M possibly damaging Het
Kctd19 G A 8: 106,135,075 (GRCm39) T62M probably damaging Het
Lsmem1 A G 12: 40,230,643 (GRCm39) probably null Het
Obscn T C 11: 58,990,802 (GRCm39) probably null Het
Or11h23 T C 14: 50,948,425 (GRCm39) Y213H probably damaging Het
Or1j12 T C 2: 36,343,233 (GRCm39) I212T probably benign Het
Otop3 T A 11: 115,230,165 (GRCm39) M14K unknown Het
Pibf1 C T 14: 99,374,566 (GRCm39) A335V possibly damaging Het
Pkd1l2 A T 8: 117,767,522 (GRCm39) L1256* probably null Het
Plbd2 T C 5: 120,631,171 (GRCm39) E202G probably benign Het
Ppp1r37 A G 7: 19,266,219 (GRCm39) S516P probably damaging Het
Ppt2 G A 17: 34,836,373 (GRCm39) T229M probably damaging Het
Prr14 A T 7: 127,075,569 (GRCm39) I526F probably damaging Het
Scel T C 14: 103,820,575 (GRCm39) probably benign Het
Scn9a A T 2: 66,395,373 (GRCm39) probably benign Het
Senp6 T A 9: 79,997,158 (GRCm39) D57E possibly damaging Het
Setd5 T C 6: 113,091,886 (GRCm39) Y217H probably damaging Het
Sgcg T C 14: 61,462,754 (GRCm39) T198A probably damaging Het
Sipa1 C T 19: 5,704,729 (GRCm39) G622D probably benign Het
Slitrk3 G T 3: 72,957,737 (GRCm39) P345Q probably benign Het
Slx4 T C 16: 3,803,652 (GRCm39) D1054G possibly damaging Het
Sned1 A T 1: 93,210,083 (GRCm39) T898S probably damaging Het
Tg C T 15: 66,565,284 (GRCm39) P1209S probably damaging Het
Tmem63b C A 17: 45,978,689 (GRCm39) V294L probably benign Het
Tnks G A 8: 35,408,015 (GRCm39) R238C probably benign Het
Tsn G A 1: 118,232,944 (GRCm39) T120I probably damaging Het
Txnrd1 T A 10: 82,731,814 (GRCm39) F479I possibly damaging Het
Ubr1 T C 2: 120,745,888 (GRCm39) M849V probably benign Het
Usp13 T C 3: 32,965,738 (GRCm39) S574P probably damaging Het
Vmn1r69 A G 7: 10,314,435 (GRCm39) Y20H probably damaging Het
Zfp1001 T C 2: 150,204,972 (GRCm39) probably benign Het
Zfp780b T A 7: 27,664,252 (GRCm39) N101I probably damaging Het
Other mutations in Slc27a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CACATGCTTTTAGGACAGGC -3'
(R):5'- ATGCCTGTGTGTCAACTGCTG -3'

Sequencing Primer
(F):5'- AAACATACACACCCATGTCCAACTG -3'
(R):5'- CAACTGCTGATACCTGTAGGG -3'
Posted On 2016-10-26