|Institutional Source||Beutler Lab|
|Gene Name||leucine rich repeat containing 2|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R2165 (G1)|
|Chromosomal Location||110951545-110984066 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 110979577 bp|
|Amino Acid Change||Histidine to Proline at position 294 (H294P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035076 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035076]|
|Predicted Effect||possibly damaging
AA Change: H294P
PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: H294P
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.046|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrrc2||
(F):5'- AGGCGTAAGGTCATGGTTGC -3'
(R):5'- AGCAAGGTTAGATTCTCCGGAG -3'
(F):5'- CGCGCGCATGTACACAC -3'
(R):5'- GATTCTCCGGAGTATGAAAATCATC -3'