|Institutional Source||Beutler Lab|
|Gene Name||calbindin 1|
|Synonyms||Brain-2, Calb, Calb-1, CalbindinD28K, calbindin-D (28k), calbindin, CB|
|Essential gene?||Possibly non essential (E-score: 0.354)|
|Stock #||R5586 (G1)|
|Chromosomal Location||15881264-15908064 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 15900811 bp (GRCm38)|
|Amino Acid Change||Threonine to Serine at position 165 (T165S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029876 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029876]|
AA Change: T165S
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: T165S
|Meta Mutation Damage Score||0.0860|
|Coding Region Coverage||
|Validation Efficiency||98% (101/103)|
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 calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous targeted mutants show severely impairment in motor coordination and Purkinje cells in the cerebellum show changes of synaptically evoked postsynaptic calcium transients. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Calb1||
(F):5'- AAGCTTCTAGTACCCAGTGGAAG -3'
(R):5'- CCCTAGGAGTCAGAAGAGAAGTTC -3'
(F):5'- CCCAGTGGAAGCTAAATAATTTGAG -3'
(R):5'- CCTACCATTTGAGTTTTTAGGGAAAG -3'