Incidental Mutation 'R4167:Nppb'
ID 320620
Institutional Source Beutler Lab
Gene Symbol Nppb
Ensembl Gene ENSMUSG00000029019
Gene Name natriuretic peptide type B
Synonyms BNP
MMRRC Submission 041008-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R4167 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148070264-148071662 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 148071431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 121 (L121*)
Ref Sequence ENSEMBL: ENSMUSP00000099521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103231]
AlphaFold P40753
Predicted Effect probably null
Transcript: ENSMUST00000103231
AA Change: L121*
SMART Domains Protein: ENSMUSP00000099521
Gene: ENSMUSG00000029019
AA Change: L121*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
NAT_PEP 92 115 9.45e-6 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 94% (31/33)
MGI Phenotype 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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casp6 A G 3: 129,706,993 (GRCm39) H201R probably damaging Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Cdh16 A G 8: 105,344,362 (GRCm39) L59P probably benign Het
Dcp2 T A 18: 44,529,034 (GRCm39) Y50N probably damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fam78b T C 1: 166,829,301 (GRCm39) V51A possibly damaging Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Glyctk G T 9: 106,034,961 (GRCm39) A35E probably benign Het
Kat14 A G 2: 144,236,030 (GRCm39) E254G probably damaging Het
Kcng1 T A 2: 168,104,617 (GRCm39) S410C probably damaging Het
Krt74 A G 15: 101,667,304 (GRCm39) noncoding transcript Het
Lrp12 T C 15: 39,748,409 (GRCm39) T70A probably damaging Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mindy4 G A 6: 55,201,331 (GRCm39) G339S possibly damaging Het
Naip1 C T 13: 100,580,794 (GRCm39) G151D probably benign Het
Ndufaf7 G A 17: 79,252,415 (GRCm39) V275I probably benign Het
Oog2 A T 4: 143,922,782 (GRCm39) Q349L probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5v1b T C 17: 37,840,897 (GRCm39) S10P possibly damaging Het
Pcdhgb8 T G 18: 37,895,596 (GRCm39) V222G possibly damaging Het
Plcd3 A T 11: 102,969,290 (GRCm39) C226S probably damaging Het
Plxdc2 A G 2: 16,570,196 (GRCm39) E125G probably damaging Het
Rnf213 A G 11: 119,332,069 (GRCm39) E2426G probably damaging Het
Rraga T C 4: 86,494,304 (GRCm39) V50A possibly damaging Het
Scmh1 T C 4: 120,386,473 (GRCm39) probably benign Het
Slc9a9 A G 9: 95,110,952 (GRCm39) Y590C probably damaging Het
Snx20 C T 8: 89,354,013 (GRCm39) R239Q probably benign Het
Vmn2r59 A G 7: 41,670,732 (GRCm39) probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Other mutations in Nppb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Nppb APN 4 148,070,463 (GRCm39) missense probably benign 0.40
R2132:Nppb UTSW 4 148,070,454 (GRCm39) missense probably benign 0.06
R4687:Nppb UTSW 4 148,070,753 (GRCm39) missense probably benign 0.12
R5430:Nppb UTSW 4 148,070,838 (GRCm39) missense probably benign
R6666:Nppb UTSW 4 148,070,463 (GRCm39) missense probably benign 0.00
R7299:Nppb UTSW 4 148,070,780 (GRCm39) missense probably benign 0.40
R7301:Nppb UTSW 4 148,070,780 (GRCm39) missense probably benign 0.40
R8347:Nppb UTSW 4 148,070,756 (GRCm39) missense probably damaging 0.99
R9345:Nppb UTSW 4 148,070,518 (GRCm39) missense probably damaging 0.99
R9658:Nppb UTSW 4 148,070,951 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- GCATTTCCCCTCAGGCAAAG -3'
(R):5'- GGCAAGTTTGTGCTCCAAGATAAG -3'

Sequencing Primer
(F):5'- TGCCCAACCCACTTTACAGGAG -3'
(R):5'- GTGCTCCAAGATAAGAAACAGTCTTG -3'
Posted On 2015-06-12