|Institutional Source||Beutler Lab|
|Gene Name||PAS domain containing serine/threonine kinase|
|Is this an essential gene?||Probably non essential (E-score: 0.087)|
|Stock #||R3778 (G1)|
|Chromosomal Location||93308770-93343482 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 93327467 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 294 (I294F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027493 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027493]|
|Predicted Effect||probably damaging
AA Change: I294F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I294F
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice display resistance to diet-induced obesity, impaired glucose stimulated insulin secretion, abnormal energy balance, and abnormalities in hypoxia induced changes in ventialtion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pask||
(F):5'- CTCCATAAATTGTGCCATCTGG -3'
(R):5'- TGCATTTGTTCTGGGCCCAG -3'
(F):5'- CCATCTGGCAGCAGAGTGATG -3'
(R):5'- AGAGTCCTCCCAGCCTGTTG -3'