|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.226)|
|Stock #||R0771 (G1)|
|Chromosomal Location||43427670-43435996 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 43430703 bp|
|Amino Acid Change||Alanine to Glutamic Acid at position 38 (A38E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004732 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004732] [ENSMUST00000177375]|
|Predicted Effect||possibly damaging
AA Change: A38E
PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: A38E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, total lens opacity, disorganized lens fibers, posterior rupturing of lens capsule, and some have vacuolated lens. Heterozygotes exhibit the same dense cataract, but without microphthalmia or lens rupture. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lim2||
(F):5'- GAATGAAGAATCCAGACTTCCCGCC -3'
(R):5'- AGATGCAAAGCCTGTTCCATCCC -3'
(F):5'- TCACTCAAGGGTCCAGATTCC -3'
(R):5'- TTAGTGCAAGGACCTGTACC -3'