|Institutional Source||Beutler Lab|
|Gene Name||period circadian clock 2|
|Is this an essential gene?||Probably non essential (E-score: 0.243)|
|Stock #||R7943 (G1)|
|Chromosomal Location||91415982-91459324 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 91444759 bp|
|Amino Acid Change||Valine to Phenylalanine at position 198 (V198F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066620 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069620]|
|Predicted Effect||probably damaging
AA Change: V198F
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: V198F
|Coding Region Coverage||
FUNCTION: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mutants have a partially functional circadian clock, exhibiting a short circadian period followed by loss of circadian rhythmicity in constant darkness. Mutants are also deficient in DNA damage responses and show increased sensitivity togamma radiation and tumor development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Per2||
(F):5'- GTCAAGATGCTGCAGTCAGGAC -3'
(R):5'- CCCTGCTAGTGTTGCATTGG -3'
(F):5'- ATGCTGCAGTCAGGACCTCAC -3'
(R):5'- CTAGTGTTGCATTGGGCTTTTGC -3'