Incidental Mutation 'R5606:Slc27a2'
ID 439281
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 043157-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5606 (G1)
Quality Score 225
Status Not 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: 98.5%
  • 20x: 96.1%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,699,731 (GRCm39) S75P probably damaging Het
Ankib1 A T 5: 3,751,907 (GRCm39) I711N probably damaging Het
Ankmy2 A G 12: 36,215,920 (GRCm39) N40S probably benign Het
Armc8 T C 9: 99,418,315 (GRCm39) K80E probably benign Het
Blm C A 7: 80,110,580 (GRCm39) probably null Het
Cand1 C A 10: 119,047,359 (GRCm39) Q710H possibly damaging Het
Ckap2l A T 2: 129,127,959 (GRCm39) I73N probably damaging Het
Ddx27 T A 2: 166,861,886 (GRCm39) D129E probably benign Het
Dnm3 T C 1: 162,113,587 (GRCm39) E491G probably damaging Het
Fgd6 C A 10: 93,974,190 (GRCm39) Y1310* probably null Het
Hnrnph3 C T 10: 62,855,222 (GRCm39) R21H possibly damaging Het
Hs3st4 C A 7: 123,996,365 (GRCm39) Q344K probably damaging Het
Hyal3 T C 9: 107,462,265 (GRCm39) S100P probably benign Het
Map3k19 G A 1: 127,750,694 (GRCm39) R886C probably benign Het
Mmrn2 G A 14: 34,119,581 (GRCm39) D187N probably damaging Het
Myo5c G A 9: 75,182,790 (GRCm39) A810T probably damaging Het
Noxa1 T A 2: 24,976,292 (GRCm39) E332V possibly damaging Het
Or10al7 T C 17: 38,365,693 (GRCm39) T264A probably damaging Het
Or12j5 T A 7: 140,083,713 (GRCm39) I220F probably damaging Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or7c70 A G 10: 78,683,395 (GRCm39) M118T probably benign Het
Parg T A 14: 31,984,693 (GRCm39) V241E probably damaging Het
Pitrm1 T A 13: 6,610,101 (GRCm39) V391D probably damaging Het
Plch1 A T 3: 63,648,108 (GRCm39) V421E probably benign Het
Spta1 A T 1: 174,047,468 (GRCm39) H1704L probably damaging Het
Tbpl2 G A 2: 23,977,245 (GRCm39) P258S possibly damaging Het
Thoc2l T C 5: 104,669,744 (GRCm39) I1422T probably benign Het
Tlr11 T C 14: 50,599,717 (GRCm39) C568R probably benign Het
Tmem260 T A 14: 48,722,437 (GRCm39) M324K probably damaging Het
Tmprss11g T A 5: 86,635,269 (GRCm39) T402S probably damaging Het
Trim21 C G 7: 102,208,813 (GRCm39) R302P probably damaging Het
Uox T A 3: 146,316,057 (GRCm39) Y21* probably null Het
Vmn1r74 A G 7: 11,580,822 (GRCm39) M41V probably benign Het
Vmn2r59 A C 7: 41,695,318 (GRCm39) S365A probably benign Het
Zfp345 A T 2: 150,316,788 (GRCm39) Y6* probably null Het
Zpld2 A C 4: 133,927,523 (GRCm39) V410G probably benign 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
R5582: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'- TCACATGCTTTTAGGACAGGCC -3'
(R):5'- AGATGCCTGTGTGTCAACTGC -3'

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