|Institutional Source||Beutler Lab|
|Gene Name||creatine kinase, brain|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7976 (G1)|
|Chromosomal Location||111669361-111672338 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 111671032 bp|
|Amino Acid Change||Leucine to Arginine at position 165 (L165R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001304 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001304]|
|Predicted Effect||possibly damaging
AA Change: L165R
PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: L165R
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have abnormal hippocampal morphology with enlarged mossy fiber field size and display resistance to pharmacologically induced seizures, reduced habituation and spatial learning impairments. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ckb||
(F):5'- ACTGCACAAACTAGGAATTCAGGG -3'
(R):5'- CATCGAGAAGCTGGCAGTAG -3'
(F):5'- CTAGGAATTCAGGGCAGGCC -3'
(R):5'- TAGGGGTCGGGTAACAGCC -3'