Incidental Mutation 'R5495:Lrat'
ID 432278
Institutional Source Beutler Lab
Gene Symbol Lrat
Ensembl Gene ENSMUSG00000028003
Gene Name lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
Synonyms 1300010A18Rik
MMRRC Submission 043056-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5495 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 82799889-82811281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82804289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 229 (M229I)
Ref Sequence ENSEMBL: ENSMUSP00000029632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029632]
AlphaFold Q9JI60
PDB Structure Crystal structure of HRASLS3/LRAT chimeric protein [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000029632
AA Change: M229I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029632
Gene: ENSMUSG00000028003
AA Change: M229I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:LRAT 43 174 1.4e-44 PFAM
low complexity region 194 205 N/A INTRINSIC
transmembrane domain 206 228 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156457
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
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 localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit retinol homeostasis abnormalities and are more susceptible to vitamin A deficiency or display impaired vision associated with abnormal retinol metabolism. Males have testicular hypoplasia/atrophy and reduced mature sperm counts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T C 7: 27,335,594 (GRCm39) probably null Het
Arhgap29 T G 3: 121,808,578 (GRCm39) M844R probably damaging Het
Atp1a1 T G 3: 101,498,741 (GRCm39) D184A probably benign Het
Bcl11a T A 11: 24,115,042 (GRCm39) V795E possibly damaging Het
Casp12 T A 9: 5,353,797 (GRCm39) I277N possibly damaging Het
Ccdc59 A G 10: 105,681,239 (GRCm39) K164E probably damaging Het
D630003M21Rik C T 2: 158,062,431 (GRCm39) G30S possibly damaging Het
Dgkd A G 1: 87,854,594 (GRCm39) D632G probably damaging Het
Efr3a A G 15: 65,687,258 (GRCm39) K56E possibly damaging Het
Egflam T A 15: 7,280,722 (GRCm39) R434S probably damaging Het
Fancl C G 11: 26,347,801 (GRCm39) A51G probably damaging Het
Fkbp7 T C 2: 76,493,638 (GRCm39) Y185C probably damaging Het
Galc A G 12: 98,197,673 (GRCm39) probably null Het
Galnt15 A G 14: 31,751,774 (GRCm39) S109G probably damaging Het
Gramd2b T C 18: 56,615,694 (GRCm39) I163T probably damaging Het
Impa1 A G 3: 10,391,230 (GRCm39) V80A probably benign Het
Itga10 T C 3: 96,554,687 (GRCm39) M56T possibly damaging Het
Larp1b G T 3: 40,990,257 (GRCm39) R135I probably damaging Het
Lgals12 C T 19: 7,581,495 (GRCm39) A71T probably damaging Het
Lmbr1 A T 5: 29,551,851 (GRCm39) L78* probably null Het
Mug2 A T 6: 122,056,609 (GRCm39) M1185L probably damaging Het
Naprt T C 15: 75,765,696 (GRCm39) probably null Het
Nfat5 A G 8: 108,095,079 (GRCm39) I1107V probably benign Het
Nr4a2 T C 2: 57,002,387 (GRCm39) Y22C probably damaging Het
Ogfod1 C A 8: 94,790,906 (GRCm39) Q526K probably benign Het
Or2d4 C A 7: 106,543,699 (GRCm39) G170* probably null Het
Or3a10 G A 11: 73,935,611 (GRCm39) T163I probably damaging Het
Or4p21 T C 2: 88,276,401 (GRCm39) T294A probably benign Het
Or8g36 T C 9: 39,422,441 (GRCm39) T192A probably benign Het
Parp10 T G 15: 76,127,366 (GRCm39) I24L probably benign Het
Pcdha11 A G 18: 37,144,079 (GRCm39) T57A probably benign Het
Prdm8 A G 5: 98,333,165 (GRCm39) E244G possibly damaging Het
Prl6a1 T C 13: 27,496,654 (GRCm39) S3P possibly damaging Het
Rab11fip3 T A 17: 26,235,117 (GRCm39) T18S probably damaging Het
Rfc4 T C 16: 22,941,004 (GRCm39) probably benign Het
Rubcnl G T 14: 75,279,777 (GRCm39) V387F possibly damaging Het
S100a7l2 A T 3: 90,997,602 (GRCm39) L38M possibly damaging Het
Serpinb12 T C 1: 106,884,151 (GRCm39) L299P probably damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,181 (GRCm39) I264F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Thsd7b T A 1: 129,523,570 (GRCm39) H124Q probably damaging Het
Ugt1a6a A T 1: 88,066,746 (GRCm39) Q184L probably benign Het
Vnn1 T A 10: 23,774,462 (GRCm39) F168L probably damaging Het
Zan A G 5: 137,468,670 (GRCm39) L267P probably damaging Het
Zswim8 A G 14: 20,772,354 (GRCm39) S1621G probably damaging Het
Other mutations in Lrat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03206:Lrat APN 3 82,810,656 (GRCm39) missense probably damaging 0.99
R1445:Lrat UTSW 3 82,810,676 (GRCm39) missense probably damaging 1.00
R1491:Lrat UTSW 3 82,810,649 (GRCm39) missense probably benign 0.07
R1735:Lrat UTSW 3 82,804,417 (GRCm39) missense probably benign 0.01
R2419:Lrat UTSW 3 82,810,992 (GRCm39) missense probably damaging 1.00
R4446:Lrat UTSW 3 82,804,293 (GRCm39) missense probably damaging 0.98
R5442:Lrat UTSW 3 82,810,527 (GRCm39) missense probably damaging 1.00
R6255:Lrat UTSW 3 82,810,812 (GRCm39) missense probably damaging 1.00
R6468:Lrat UTSW 3 82,810,799 (GRCm39) missense probably damaging 1.00
R6909:Lrat UTSW 3 82,810,961 (GRCm39) missense probably damaging 1.00
R7041:Lrat UTSW 3 82,810,755 (GRCm39) missense probably benign 0.03
R7396:Lrat UTSW 3 82,810,590 (GRCm39) nonsense probably null
R8369:Lrat UTSW 3 82,810,865 (GRCm39) missense probably damaging 0.97
Z1177:Lrat UTSW 3 82,810,797 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGCACGTGGTATGATTC -3'
(R):5'- CGGGAAGACTACTTGGTCTGTG -3'

Sequencing Primer
(F):5'- GCAAGCACGTGGTATGATTCTTAATC -3'
(R):5'- AGCCATGGTTCCTAACAGTC -3'
Posted On 2016-10-05