|Institutional Source||Beutler Lab|
|Gene Name||natriuretic peptide type B|
|Is this an essential gene?||Probably non essential (E-score: 0.114)|
|Stock #||R7299 (G1)|
|Chromosomal Location||147985788-147987205 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 147986323 bp|
|Amino Acid Change||Serine to Proline at position 52 (S52P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099521 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103231]|
|Predicted Effect||probably benign
AA Change: S52P
PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
AA Change: S52P
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
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'- TCGAGTCCTTTGGGAATTAGC -3'
(R):5'- TGCAGCTTTGCAGGGAAGTG -3'
(F):5'- TTAGCCATGTGAGAGTCAGC -3'
(R):5'- TGGCAAGGTAGGTGCTCAC -3'