Incidental Mutation 'R6909:Lrat'
ID 538908
Institutional Source Beutler Lab
Gene Symbol Lrat
Ensembl Gene ENSMUSG00000028003
Gene Name lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
Synonyms 1300010A18Rik
MMRRC Submission 045001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6909 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 82799889-82811281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82810961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 20 (S20F)
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: S20F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029632
Gene: ENSMUSG00000028003
AA Change: S20F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,006,323 (GRCm39) Q1261K probably benign Het
Acp3 T C 9: 104,178,164 (GRCm39) Y329C probably damaging Het
Agrn G T 4: 156,261,464 (GRCm39) H585N possibly damaging Het
Ano1 G A 7: 144,209,468 (GRCm39) T211M probably damaging Het
Atic T G 1: 71,616,005 (GRCm39) probably null Het
Catsperd T A 17: 56,957,781 (GRCm39) S229R probably damaging Het
Ccdc168 C T 1: 44,098,935 (GRCm39) R721Q possibly damaging Het
Cfap210 A T 2: 69,612,192 (GRCm39) probably null Het
Cfap251 A G 5: 123,425,815 (GRCm39) Y418C probably damaging Het
Cibar1 T C 4: 12,168,309 (GRCm39) T97A probably benign Het
Cmya5 T C 13: 93,227,760 (GRCm39) T2443A probably benign Het
Dysf A T 6: 84,169,920 (GRCm39) E1772V probably damaging Het
Eps8l1 T A 7: 4,472,899 (GRCm39) L107* probably null Het
Fpr3 T A 17: 18,191,429 (GRCm39) F233L probably benign Het
Gjc2 A T 11: 59,067,918 (GRCm39) V188E unknown Het
Gm45861 T A 8: 28,017,109 (GRCm39) Y690N unknown Het
Gsdma2 T A 11: 98,543,383 (GRCm39) C224* probably null Het
Gucy2d T A 7: 98,116,832 (GRCm39) Y881N probably damaging Het
Hcn3 A G 3: 89,059,936 (GRCm39) probably null Het
Hectd1 G T 12: 51,810,945 (GRCm39) probably null Het
Ifitm5 A G 7: 140,529,172 (GRCm39) F146L probably benign Het
Impg2 T C 16: 56,024,947 (GRCm39) F18S probably damaging Het
Ino80c T A 18: 24,241,812 (GRCm39) probably benign Het
Itga10 A G 3: 96,569,915 (GRCm39) H1109R probably benign Het
Kdm3b T A 18: 34,960,381 (GRCm39) probably null Het
Klra8 T G 6: 130,102,123 (GRCm39) N104T probably benign Het
Llgl2 G A 11: 115,741,625 (GRCm39) C585Y probably damaging Het
Lmod2 T A 6: 24,604,157 (GRCm39) D377E probably benign Het
Lrrc43 T A 5: 123,638,482 (GRCm39) H363Q probably benign Het
Lyst T G 13: 13,917,960 (GRCm39) I3340S probably damaging Het
Magi1 C A 6: 93,674,301 (GRCm39) G948W probably damaging Het
Map3k4 A C 17: 12,489,872 (GRCm39) F520V probably damaging Het
Mcm4 A T 16: 15,446,561 (GRCm39) N607K probably damaging Het
Mta3 T C 17: 84,073,980 (GRCm39) V216A possibly damaging Het
Ncor1 C A 11: 62,220,312 (GRCm39) G2131V probably damaging Het
Or10ag2 A G 2: 87,248,959 (GRCm39) H189R probably damaging Het
Or2z9 T A 8: 72,854,372 (GRCm39) V256E possibly damaging Het
Or5d16 A G 2: 87,773,034 (GRCm39) S313P probably benign Het
Or9k7 T A 10: 130,046,622 (GRCm39) I126L probably benign Het
Pramel12 T C 4: 143,144,479 (GRCm39) L275P probably damaging Het
Ptpn2 A T 18: 67,809,041 (GRCm39) probably null Het
Scn10a A G 9: 119,438,856 (GRCm39) I1671T probably damaging Het
Scyl2 A T 10: 89,481,604 (GRCm39) S622T probably benign Het
Sim1 C T 10: 50,785,506 (GRCm39) R192C possibly damaging Het
Skor2 A G 18: 76,948,252 (GRCm39) H658R possibly damaging Het
Slc10a5 A G 3: 10,400,655 (GRCm39) S2P possibly damaging Het
Slc37a4 A T 9: 44,311,331 (GRCm39) K207N possibly damaging Het
Syne2 G T 12: 76,110,969 (GRCm39) V5768L probably benign Het
Tdpoz3 T A 3: 93,733,772 (GRCm39) V149E probably damaging Het
Tekt5 T C 16: 10,176,165 (GRCm39) N460S probably damaging Het
Tk2 G T 8: 104,963,442 (GRCm39) Y142* probably null Het
Tkfc T A 19: 10,573,630 (GRCm39) Q236L probably benign Het
Tln2 G A 9: 67,299,814 (GRCm39) T148I probably damaging Het
Trim62 A G 4: 128,778,021 (GRCm39) D20G probably damaging Het
Tspan14 A C 14: 40,635,398 (GRCm39) V166G probably benign Het
Ttn A T 2: 76,712,065 (GRCm39) probably benign Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn2r117 C G 17: 23,698,479 (GRCm39) Q31H possibly damaging Het
Zfp87 T C 13: 74,519,861 (GRCm39) T406A possibly 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
R5495:Lrat UTSW 3 82,804,289 (GRCm39) missense probably benign 0.00
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
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'- TGTCAGGCATTAGATGGGCG -3'
(R):5'- AGGCACACTACCTCTTCAGC -3'

Sequencing Primer
(F):5'- ATGGGCGACACGGTTTTCC -3'
(R):5'- GCTGAGCCAAGCACTTTG -3'
Posted On 2018-11-06