|Institutional Source||Beutler Lab|
|Gene Name||leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.050)|
|Stock #||R6263 (G1)|
|Chromosomal Location||4237754-4243463 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 4238361 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 99 (Y99F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113091 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000117550]|
|Predicted Effect||probably damaging
AA Change: Y99F
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Y99F
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lilra5||
(F):5'- TTTCTTTGCAGGGAATCCGC -3'
(R):5'- GACTATCCAGGCTGCATTGC -3'
(F):5'- AACCCTTAGTGTTCAGCCAGG -3'
(R):5'- GCATTGCCTTCCAGTGTTGAGC -3'