|Institutional Source||Beutler Lab|
|Gene Name||natriuretic peptide receptor 1|
|Synonyms||NPRA, guanylyl cyclase-A, GC-A, NPR-A|
|Is this an essential gene?||Probably non essential (E-score: 0.199)|
|Stock #||R7841 (G1)|
|Chromosomal Location||90450591-90465866 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 90454868 bp|
|Amino Acid Change||Leucine to Histidine at position 990 (L990H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029540 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029540]|
|Predicted Effect||probably damaging
AA Change: L990H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L990H
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
PHENOTYPE: Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Npr1||
(F):5'- TGCGTTTTCAACCCCATGTG -3'
(R):5'- GAGACTAAACCTTTATCCCCTGTC -3'
(F):5'- CACACACACCAATTGTCTTGATTTAC -3'
(R):5'- CTCTCTCCACACACCCTGGG -3'