Incidental Mutation 'R4446:Lrat'
ID 329884
Institutional Source Beutler Lab
Gene Symbol Lrat
Ensembl Gene ENSMUSG00000028003
Gene Name lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
Synonyms 1300010A18Rik
MMRRC Submission 041707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4446 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 82799889-82811281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82804293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 228 (M228T)
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: M228T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029632
Gene: ENSMUSG00000028003
AA Change: M228T

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
Meta Mutation Damage Score 0.2536 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 91% (43/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,731 (GRCm39) noncoding transcript Het
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Akt1 C T 12: 112,625,567 (GRCm39) R144H probably benign Het
Arrdc3 T C 13: 81,037,182 (GRCm39) probably benign Het
Asxl2 T A 12: 3,551,774 (GRCm39) V1172E possibly damaging Het
Atp9a C T 2: 168,523,917 (GRCm39) A242T possibly damaging Het
C2cd3 C T 7: 100,023,684 (GRCm39) T90I probably damaging Het
C4bp A G 1: 130,570,692 (GRCm39) S295P probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cep131 T C 11: 119,955,645 (GRCm39) E1025G probably damaging Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Dgkb G T 12: 38,234,952 (GRCm39) G439V probably damaging Het
Dgkh A G 14: 78,865,523 (GRCm39) V20A probably damaging Het
Dipk1a T C 5: 108,072,500 (GRCm39) Y52C probably damaging Het
Dysf A G 6: 84,182,854 (GRCm39) N2035S probably damaging Het
Fzd1 A G 5: 4,805,777 (GRCm39) Y602H probably damaging Het
Gm38706 C A 6: 130,460,273 (GRCm39) noncoding transcript Het
Hmmr T C 11: 40,606,148 (GRCm39) Q274R probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Klf5 C T 14: 99,539,666 (GRCm39) R360C probably damaging Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo3a A T 2: 22,490,149 (GRCm39) K565N probably damaging Het
Or10n1 A T 9: 39,525,294 (GRCm39) I144L probably benign Het
Or1ad6 C T 11: 50,860,690 (GRCm39) P282S probably damaging Het
Or3a1d T C 11: 74,237,588 (GRCm39) D274G probably benign Het
Pcdha6 A G 18: 37,100,813 (GRCm39) D2G probably benign Het
Pcdhga3 A G 18: 37,808,938 (GRCm39) R464G probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pramel42 T A 5: 94,685,702 (GRCm39) I454K probably damaging Het
Rnf13 A C 3: 57,728,010 (GRCm39) K230T probably damaging Het
Sema6d A G 2: 124,505,979 (GRCm39) M596V probably damaging Het
Slc25a25 T C 2: 32,320,621 (GRCm39) K47E probably benign Het
Sptbn1 C T 11: 30,089,114 (GRCm39) R716H possibly damaging Het
Ssx2ip G A 3: 146,132,186 (GRCm39) V216I probably benign Het
Tatdn2 T G 6: 113,679,501 (GRCm39) probably null Het
Tmprss6 A G 15: 78,337,039 (GRCm39) Y356H probably damaging Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Umod A G 7: 119,065,279 (GRCm39) probably null Het
Vmn2r93 T A 17: 18,524,312 (GRCm39) I102K possibly damaging Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign 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
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
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'- ATCGGGAAGACTACTTGGTCTG -3'

Sequencing Primer
(F):5'- GCAAGCACGTGGTATGATTCTTAATC -3'
(R):5'- TAGCCATGGTTCCTAACAGTC -3'
Posted On 2015-07-21