|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, cGMP-dependent, type I|
|Essential gene?||Possibly essential (E-score: 0.728)|
|Stock #||R2011 (G1)|
|Chromosomal Location||30567551-31765033 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31664142 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 47 (D47G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073268 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065067] [ENSMUST00000073581]|
AA Change: D47G
PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: D47G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mutant mice exhibit abnormal smooth muscle function and penile erectile deficiency. Conditional disruption in the hippocampus results in impaired LTP. Mice homozygous for a transposon induced allele exhibit postnatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkg1||
(F):5'- TAACCCTGCTTACTGTGGGC -3'
(R):5'- CTTTAGGGAAAGTTGATCCGAGAGG -3'
(F):5'- CTCTTGGGGTAGAAGGGCAG -3'
(R):5'- GAGGAAGCCCCAAGACGC -3'