|Institutional Source||Beutler Lab|
|Gene Name||guanylate cyclase 1, soluble, beta 1|
|Synonyms||beta 1 sGC|
|Is this an essential gene?||Possibly essential (E-score: 0.519)|
|Stock #||R0115 (G1)|
|Chromosomal Location||82032006-82074689 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 82034391 bp|
|Amino Acid Change||Histidine to Leucine at position 586 (H586L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029635 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029635] [ENSMUST00000193597]|
|Predicted Effect||probably benign
AA Change: H586L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H586L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0995|
|Coding Region Coverage||
|Validation Efficiency||98% (98/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice that bypass neonatal lethality die prematurely due to severe gastrointestinal obstruction and exhibit hypertension, reduced heart rate, lack of glycerol trinitrate-induced drop in systolic pressure, and lack of a nitric oxide effect on aortic relaxation and platelet aggregation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gucy1b1||
(F):5'- TTTGGACTGCATCTGAGCTGGAC -3'
(R):5'- AGCCATCTTACCTCACCCTGAAGG -3'
(F):5'- AACTGGCTCATCAGTGTGAC -3'
(R):5'- TCACCCTGAAGGTTTCCAATAAAG -3'