|Institutional Source||Beutler Lab|
|Gene Name||calcium and integrin binding family member 2|
|Synonyms||calcium binding protein Kip2, 2810434I23Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6823 (G1)|
|Chromosomal Location||54544794-54560218 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 54549891 bp (GRCm38)|
|Amino Acid Change||Leucine to Isoleucine at position 30 (L30I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038527 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041901] [ENSMUST00000060242]|
AA Change: L30I
PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: L30I
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cib2||
(F):5'- ACACATTCACAATGGCTTGAG -3'
(R):5'- AGGGATTCACCAGAACCTGC -3'
(F):5'- GCAATATGGATCTGGGCCTCTAAC -3'
(R):5'- ATTGGCCCCTCACTAGAT -3'