|Institutional Source||Beutler Lab|
|Gene Name||kalirin, RhoGEF kinase|
|Synonyms||2210407G14Rik, Hapip, E530005C20Rik, LOC224126|
|Essential gene?||Probably essential (E-score: 0.934)|
|Stock #||R0614 (G1)|
|Chromosomal Location||33969073-34573532 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 33993670 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000110624 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076810] [ENSMUST00000114973]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele specific for isoform 7 exhibit decreased anxiety-related behavior, contextual conditioning, and synapse formation. Mice homozygous for another knock-out allele exhibit impaired AMPA-mediated synaptic currents and abnormal behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kalrn||
(F):5'- CGTCAGGGTTCAAATGACCCACAG -3'
(R):5'- GTCGTCCATAACAGAACAGGGCAAG -3'
(F):5'- cagacccagaaagatctgcc -3'
(R):5'- CAAGAAGGTGTGGGCTCCTG -3'