Incidental Mutation 'R5442:Lrat'
ID |
427217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrat
|
Ensembl Gene |
ENSMUSG00000028003 |
Gene Name |
lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) |
Synonyms |
1300010A18Rik |
MMRRC Submission |
043007-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R5442 (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 T
at 82810527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 165
(V165M)
|
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: V165M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029632 Gene: ENSMUSG00000028003 AA Change: V165M
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,909,594 (GRCm39) |
M114T |
probably benign |
Het |
Ablim3 |
A |
T |
18: 61,990,296 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,340,709 (GRCm39) |
D238G |
probably benign |
Het |
Astn2 |
G |
T |
4: 65,500,023 (GRCm39) |
S955R |
possibly damaging |
Het |
Casc3 |
A |
G |
11: 98,712,297 (GRCm39) |
E112G |
probably damaging |
Het |
Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
Commd4 |
A |
G |
9: 57,064,090 (GRCm39) |
V37A |
possibly damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,643 (GRCm39) |
Q205R |
possibly damaging |
Het |
Gal3st4 |
A |
G |
5: 138,264,042 (GRCm39) |
V319A |
possibly damaging |
Het |
Inpp5d |
G |
A |
1: 87,645,788 (GRCm39) |
A1058T |
probably benign |
Het |
Lpin3 |
A |
G |
2: 160,746,936 (GRCm39) |
Y781C |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,502,103 (GRCm39) |
S142P |
probably benign |
Het |
Oas1a |
T |
C |
5: 121,035,269 (GRCm39) |
T349A |
probably benign |
Het |
Or52e8 |
A |
T |
7: 104,624,435 (GRCm39) |
F252L |
possibly damaging |
Het |
Or5m3b |
T |
C |
2: 85,872,295 (GRCm39) |
V212A |
probably benign |
Het |
Or5v1 |
A |
T |
17: 37,810,330 (GRCm39) |
I263F |
probably damaging |
Het |
Or8c20 |
T |
A |
9: 38,261,158 (GRCm39) |
S260T |
probably benign |
Het |
Pakap |
C |
A |
4: 57,637,876 (GRCm39) |
P18Q |
probably null |
Het |
Pcdha2 |
T |
C |
18: 37,072,915 (GRCm39) |
V182A |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,784,254 (GRCm39) |
D26G |
probably benign |
Het |
Phrf1 |
G |
A |
7: 140,820,850 (GRCm39) |
R159H |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rab3ip |
T |
C |
10: 116,754,753 (GRCm39) |
T268A |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,656,742 (GRCm39) |
D299G |
probably damaging |
Het |
Rem1 |
A |
G |
2: 152,469,977 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
A |
G |
2: 122,317,350 (GRCm39) |
N36S |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,293,473 (GRCm39) |
M1286T |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,748,799 (GRCm39) |
T52A |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,793,872 (GRCm39) |
F390Y |
probably damaging |
Het |
Trio |
T |
C |
15: 27,856,280 (GRCm39) |
D696G |
probably benign |
Het |
Ttll11 |
T |
C |
2: 35,793,135 (GRCm39) |
*191W |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,135,083 (GRCm39) |
D805G |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,336,467 (GRCm39) |
I1469T |
possibly damaging |
Het |
Vmn1r70 |
G |
T |
7: 10,367,877 (GRCm39) |
A122S |
possibly damaging |
Het |
Vmn2r78 |
G |
T |
7: 86,569,330 (GRCm39) |
L74F |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 102,044,425 (GRCm39) |
E1860G |
probably benign |
Het |
|
Other mutations in Lrat |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TGAAATAGCCTTTCTGCGAGG -3'
(R):5'- CATTTGCAAGGTGGCTAGCATC -3'
Sequencing Primer
(F):5'- TTTCTGCGAGGCAAACTGC -3'
(R):5'- TCCGTGTGGACACAGTAGAG -3'
|
Posted On |
2016-09-01 |