|Institutional Source||Beutler Lab|
|Gene Name||leucine rich repeat protein 2, neuronal|
|Is this an essential gene?||Probably non essential (E-score: 0.086)|
|Stock #||R8195 (G1)|
|Chromosomal Location||132880273-132940005 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 132937344 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 49 (E49G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027706 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027706]|
|Predicted Effect||probably damaging
AA Change: E49G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E49G
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrrn2||
(F):5'- AGAATGACTGCCCTGAGAGG -3'
(R):5'- CATCTGAGAAGCTGTTCTGGGAC -3'
(F):5'- CCTGCAAGTCGTGAAGAGC -3'
(R):5'- ACAGGTCCAGCTCTGTGAG -3'