Incidental Mutation 'IGL02141:Nppb'
ID 281568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nppb
Ensembl Gene ENSMUSG00000029019
Gene Name natriuretic peptide type B
Synonyms BNP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL02141
Quality Score
Chromosome 4
Chromosomal Location 147985788-147987205 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 147986006 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 11 (I11F)
Ref Sequence ENSEMBL: ENSMUSP00000099521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103231]
AlphaFold P40753
Predicted Effect probably benign
Transcript: ENSMUST00000103231
AA Change: I11F

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099521
Gene: ENSMUSG00000029019
AA Change: I11F

signal peptide 1 26 N/A INTRINSIC
NAT_PEP 92 115 9.45e-6 SMART
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 (GRCm38) A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 (GRCm38) probably benign Het
4931423N10Rik T C 2: 23,230,200 (GRCm38) F203L probably damaging Het
Atf6b C A 17: 34,653,277 (GRCm38) H539Q probably benign Het
Bmal2 T A 6: 146,828,095 (GRCm38) probably benign Het
Bpifb5 G T 2: 154,229,557 (GRCm38) probably null Het
Cep89 T A 7: 35,420,924 (GRCm38) M377K probably damaging Het
Clpx G T 9: 65,312,118 (GRCm38) probably null Het
Cops5 T C 1: 10,035,117 (GRCm38) K47E probably damaging Het
Cryba2 T C 1: 74,892,784 (GRCm38) N35S probably benign Het
Ddx27 A G 2: 167,020,523 (GRCm38) K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 (GRCm38) S319P probably benign Het
Dram2 A G 3: 106,571,696 (GRCm38) probably benign Het
Eci2 T A 13: 34,978,673 (GRCm38) T300S probably benign Het
Egf C A 3: 129,739,982 (GRCm38) G70* probably null Het
Eif5b T C 1: 38,032,322 (GRCm38) V444A probably benign Het
Elf3 T C 1: 135,257,707 (GRCm38) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm38) probably null Het
Fam167a T A 14: 63,452,259 (GRCm38) S2T probably benign Het
Flrt3 A G 2: 140,660,688 (GRCm38) V340A probably damaging Het
Gimap3 T C 6: 48,765,378 (GRCm38) E206G probably benign Het
Gp6 T C 7: 4,394,104 (GRCm38) probably benign Het
Gpr158 A T 2: 21,783,290 (GRCm38) M581L probably damaging Het
Hapln3 A G 7: 79,118,145 (GRCm38) V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 (GRCm38) T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 (GRCm38) I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 (GRCm38) T926M probably damaging Het
Lonp1 A T 17: 56,615,086 (GRCm38) S765T probably benign Het
Lpp C T 16: 24,761,615 (GRCm38) S27F probably damaging Het
Lrit2 T C 14: 37,068,074 (GRCm38) probably benign Het
Luc7l C A 17: 26,253,080 (GRCm38) T17K probably damaging Het
Mmut A G 17: 40,938,817 (GRCm38) T228A possibly damaging Het
Mroh1 G T 15: 76,446,599 (GRCm38) S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 (GRCm38) C1091G unknown Het
Nsf A T 11: 103,828,525 (GRCm38) D650E probably benign Het
Ogdh A G 11: 6,355,015 (GRCm38) K907E probably damaging Het
Or1b1 G A 2: 37,105,425 (GRCm38) S75F probably benign Het
Or1j15 A G 2: 36,568,808 (GRCm38) D70G probably damaging Het
Or7a35 A G 10: 79,017,721 (GRCm38) Y133C probably damaging Het
Pcnx1 A T 12: 81,860,382 (GRCm38) Q4L possibly damaging Het
Pgc T A 17: 47,726,931 (GRCm38) L9H probably damaging Het
Pikfyve T A 1: 65,246,397 (GRCm38) S887T probably benign Het
Plec T C 15: 76,175,615 (GRCm38) D3239G probably damaging Het
Pole4 T C 6: 82,648,034 (GRCm38) T116A probably benign Het
Prpf8 A G 11: 75,490,672 (GRCm38) N300D possibly damaging Het
Rara T A 11: 98,968,081 (GRCm38) Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 (GRCm38) R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 (GRCm38) R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 (GRCm38) N216K probably benign Het
Suox A G 10: 128,672,098 (GRCm38) probably benign Het
Tars1 T A 15: 11,391,194 (GRCm38) Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 (GRCm38) probably null Het
Ubtd2 A T 11: 32,499,262 (GRCm38) K36N probably benign Het
Unkl T C 17: 25,229,434 (GRCm38) L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 (GRCm38) Y9* probably null Het
Vps13b T C 15: 35,572,081 (GRCm38) V948A probably benign Het
Zbtb17 A G 4: 141,464,953 (GRCm38) H403R probably damaging Het
Other mutations in Nppb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2132:Nppb UTSW 4 147,985,997 (GRCm38) missense probably benign 0.06
R4167:Nppb UTSW 4 147,986,974 (GRCm38) nonsense probably null
R4687:Nppb UTSW 4 147,986,296 (GRCm38) missense probably benign 0.12
R5430:Nppb UTSW 4 147,986,381 (GRCm38) missense probably benign
R6666:Nppb UTSW 4 147,986,006 (GRCm38) missense probably benign 0.00
R7299:Nppb UTSW 4 147,986,323 (GRCm38) missense probably benign 0.40
R7301:Nppb UTSW 4 147,986,323 (GRCm38) missense probably benign 0.40
R8347:Nppb UTSW 4 147,986,299 (GRCm38) missense probably damaging 0.99
R9345:Nppb UTSW 4 147,986,061 (GRCm38) missense probably damaging 0.99
R9658:Nppb UTSW 4 147,986,494 (GRCm38) missense possibly damaging 0.59
Posted On 2015-04-16