Incidental Mutation 'R6468:Lrat'
ID 516413
Institutional Source Beutler Lab
Gene Symbol Lrat
Ensembl Gene ENSMUSG00000028003
Gene Name lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
MMRRC Submission 044601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6468 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 82892579-82903973 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82903492 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 74 (M74K)
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 damaging
Transcript: ENSMUST00000029632
AA Change: M74K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029632
Gene: ENSMUSG00000028003
AA Change: M74K

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: ENSMUST00000131274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156457
Meta Mutation Damage Score 0.3205 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (57/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik G T 10: 82,295,316 (GRCm38) T620K probably benign Het
4932438A13Rik T C 3: 37,008,443 (GRCm38) I3368T probably damaging Het
Adamtsl5 A G 10: 80,341,913 (GRCm38) V305A possibly damaging Het
Adgrl4 A G 3: 151,492,375 (GRCm38) T91A probably benign Het
Ano6 A G 15: 95,967,714 (GRCm38) I860V probably benign Het
B3galnt1 A G 3: 69,575,533 (GRCm38) S132P probably damaging Het
Btbd10 A T 7: 113,347,059 (GRCm38) V33E probably benign Het
Cacna1g A T 11: 94,439,722 (GRCm38) V989D probably damaging Het
Celsr3 A G 9: 108,835,790 (GRCm38) D1807G probably benign Het
Chd6 A G 2: 161,013,067 (GRCm38) M807T probably damaging Het
Cpxm2 T C 7: 132,070,860 (GRCm38) D320G probably damaging Het
Cryzl1 A C 16: 91,692,525 (GRCm38) probably null Het
Dcbld2 A T 16: 58,433,373 (GRCm38) K158* probably null Het
Depdc5 A G 5: 32,912,231 (GRCm38) N437S probably benign Het
Dock7 G A 4: 98,967,227 (GRCm38) S1496L probably benign Het
Eea1 T G 10: 96,028,412 (GRCm38) I931R probably benign Het
Eif2ak4 C A 2: 118,436,241 (GRCm38) L714I probably damaging Het
Enpep A G 3: 129,331,860 (GRCm38) probably null Het
Fam83b T A 9: 76,502,131 (GRCm38) K238* probably null Het
Fam83f A G 15: 80,692,111 (GRCm38) Y321C possibly damaging Het
Fanci A G 7: 79,417,939 (GRCm38) I42V probably benign Het
Flg2 A T 3: 93,214,421 (GRCm38) R1299S unknown Het
Gak G T 5: 108,623,336 (GRCm38) C102* probably null Het
Gcnt7 A G 2: 172,454,073 (GRCm38) L277P probably damaging Het
Gucy2d A G 7: 98,449,961 (GRCm38) E329G probably benign Het
Hacd1 T C 2: 14,035,944 (GRCm38) I167V probably damaging Het
Hdlbp T A 1: 93,417,667 (GRCm38) D662V possibly damaging Het
Hspa4 A T 11: 53,265,056 (GRCm38) V674E probably benign Het
Hunk A G 16: 90,493,432 (GRCm38) Q442R possibly damaging Het
Lce1j A T 3: 92,789,422 (GRCm38) C16* probably null Het
Lrig2 G A 3: 104,467,193 (GRCm38) R191C probably damaging Het
Lrrc37a A C 11: 103,460,840 (GRCm38) F2558L unknown Het
Mctp1 T A 13: 76,731,811 (GRCm38) probably null Het
Mecom T A 3: 30,140,386 (GRCm38) probably benign Het
Mgst1 A G 6: 138,141,587 (GRCm38) probably null Het
Ms4a15 T G 19: 10,993,170 (GRCm38) E3A probably benign Het
Myo1d T C 11: 80,557,474 (GRCm38) I942V probably benign Het
Neu2 A G 1: 87,596,878 (GRCm38) Y195C probably damaging Het
Nipa1 A T 7: 56,019,504 (GRCm38) V22E probably benign Het
Olfr1061 T A 2: 86,414,037 (GRCm38) N5I probably damaging Het
Olfr733 A T 14: 50,298,467 (GRCm38) L281I probably benign Het
Olfr781 T C 10: 129,333,711 (GRCm38) S277P possibly damaging Het
Pik3r4 A G 9: 105,685,190 (GRCm38) T1223A possibly damaging Het
Ppl T C 16: 5,092,441 (GRCm38) D811G probably damaging Het
Prep T A 10: 45,115,107 (GRCm38) Y290N probably damaging Het
Ptk6 A T 2: 181,199,102 (GRCm38) H215Q probably benign Het
Rad50 A G 11: 53,692,144 (GRCm38) I474T possibly damaging Het
Rnf213 T A 11: 119,452,687 (GRCm38) V3626E possibly damaging Het
Scn4a C T 11: 106,345,676 (GRCm38) V253M probably damaging Het
Snta1 T A 2: 154,377,149 (GRCm38) D422V probably damaging Het
Stk38 A G 17: 28,984,112 (GRCm38) L160P probably benign Het
Tapbp T C 17: 33,926,098 (GRCm38) F323S probably damaging Het
Uggt1 C T 1: 36,173,450 (GRCm38) R937Q probably benign Het
Vash2 G A 1: 190,978,287 (GRCm38) P57L probably damaging Het
Vmn1r4 G A 6: 56,956,867 (GRCm38) V119I probably benign Het
Vmn2r74 T C 7: 85,961,391 (GRCm38) D31G probably benign Het
Zfp114 T C 7: 24,177,781 (GRCm38) V16A possibly damaging Het
Other mutations in Lrat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03206:Lrat APN 3 82,903,349 (GRCm38) missense probably damaging 0.99
R1445:Lrat UTSW 3 82,903,369 (GRCm38) missense probably damaging 1.00
R1491:Lrat UTSW 3 82,903,342 (GRCm38) missense probably benign 0.07
R1735:Lrat UTSW 3 82,897,110 (GRCm38) missense probably benign 0.01
R2419:Lrat UTSW 3 82,903,685 (GRCm38) missense probably damaging 1.00
R4446:Lrat UTSW 3 82,896,986 (GRCm38) missense probably damaging 0.98
R5442:Lrat UTSW 3 82,903,220 (GRCm38) missense probably damaging 1.00
R5495:Lrat UTSW 3 82,896,982 (GRCm38) missense probably benign 0.00
R6255:Lrat UTSW 3 82,903,505 (GRCm38) missense probably damaging 1.00
R6909:Lrat UTSW 3 82,903,654 (GRCm38) missense probably damaging 1.00
R7041:Lrat UTSW 3 82,903,448 (GRCm38) missense probably benign 0.03
R7396:Lrat UTSW 3 82,903,283 (GRCm38) nonsense probably null
R8369:Lrat UTSW 3 82,903,558 (GRCm38) missense probably damaging 0.97
Z1177:Lrat UTSW 3 82,903,490 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-21