Mutagenetix > Incidental Mutation

Incidental Mutation 'R6468:Lrat'

516413

Institutional Source

Beutler Lab

Gene Symbol

Lrat

Ensembl Gene

ENSMUSG00000028003

Gene Name

lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)

Synonyms

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

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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- GACTTCTTCTTGAGAGTCCCG -3'
(R):5'- AGAACCCAATGCTGGAAGC -3'

Sequencing Primer
(F):5'- AGAGTCCCGTCTAGGTGATTGAC -3'
(R):5'- AATGCTGGAAGCTGCGTC -3'

Posted On

2018-05-21