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|Institutional Source||Beutler Lab|
|Gene Name||natriuretic peptide type B|
|Is this an essential gene?||Probably non essential (E-score: 0.108)|
|Stock #||R6666 (G1)|
|Chromosomal Location||147985788-147987205 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 147986006 bp|
|Amino Acid Change||Isoleucine to Valine at position 11 (I11V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099521 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103231]|
|Predicted Effect||probably benign
AA Change: I11V
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: I11V
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
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'- GGGTGAATTCTCAGGTCCTG -3'
(R):5'- GGCTAATTCCCAAAGGACTCG -3'
(F):5'- TCAGGTCCTGAGCTCAGC -3'
(R):5'- CCAAAGGACTCGAGGTCTTTTCATTG -3'