|Institutional Source||Beutler Lab|
|Gene Name||natriuretic peptide type B|
|Essential gene?||Probably non essential (E-score: 0.148)|
|Stock #||R4687 (G1)|
|Chromosomal Location||147985788-147987205 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 147986296 bp (GRCm38)|
|Amino Acid Change||Lysine to Glutamic Acid at position 43 (K43E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099521 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103231]|
AA Change: K43E
PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: K43E
|Coding Region Coverage||
FUNCTION: This gene encodes a secreted protein that belongs to the family of natriuretic peptides. Its precursor protein is processed to generate the active mature peptide. The mature peptide is a cardiac hormone that plays a role in ventricular remodeling as well as blood pressure regulation. Mice lacking this gene exhibit cardiac fibrosis. In humans this gene is associated with congestive heart failure, low bone-mineral density and postmenopausal osteoporosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation develop multifocal fibrotic ventricular lesions which become larger and more numerous under conditions of ventricular pressure overload. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nppb||
(F):5'- GCCAGTCTCCAGAGCAATTC -3'
(R):5'- CCCAAAGCAGCTTGAGATATGTG -3'
(F):5'- GTCTCCAGAGCAATTCAAGATG -3'
(R):5'- AGCAGCTTGAGATATGTGTCACC -3'