Incidental Mutation 'R2217:Slc27a2'
ID 241194
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 040219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 126394944-126430163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126409672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 285 (T285A)
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: T285A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: T285A

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 possibly damaging
Transcript: ENSMUST00000141482
AA Change: T149A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359
AA Change: T149A

DomainStartEndE-ValueType
Pfam:AMP-binding 7 256 6.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150947
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly 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
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'- AGAATGATTCTCCATGCACCTTC -3'
(R):5'- AGTGTGTCATCAGGCATGTTAC -3'

Sequencing Primer
(F):5'- ATGCACCTTCTCCTCTTCCATAGG -3'
(R):5'- CGAGATCCCAGGAGTCTTGAATATC -3'
Posted On 2014-10-15