|Institutional Source||Beutler Lab|
|Gene Name||LIM homeobox protein 5|
|Is this an essential gene?||Possibly essential (E-score: 0.652)|
|Stock #||R4504 (G1)|
|Chromosomal Location||120431699-120441223 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 120440008 bp|
|Amino Acid Change||Histidine to Asparagine at position 298 (H298N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031591 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031591]|
|Predicted Effect||possibly damaging
AA Change: H298N
PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: H298N
|Meta Mutation Damage Score||0.0897|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null mutation display defective hippocampal development and die within a few days after birth. Postmitotic hippocampal cells are unable to differentiate properly and migrate to correct positions, resulting in structural anomalies of the Ammon's horn and the dentate gyrus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lhx5||
(F):5'- TGTACTGACAGCCCTATCTGG -3'
(R):5'- AGGACTCTTGAGGCTTACCC -3'
(F):5'- CCTATCTGGGCGCCCTG -3'
(R):5'- ATACGGCCGCTTCGTTGAG -3'