Incidental Mutation 'IGL02209:Nppc'
ID 284642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nppc
Ensembl Gene ENSMUSG00000026241
Gene Name natriuretic peptide type C
Synonyms lbab, natriuretic peptide precursor C, CNP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # IGL02209
Quality Score
Status
Chromosome 1
Chromosomal Location 86594015-86598295 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 86597387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 127 (*127W)
Ref Sequence ENSEMBL: ENSMUSP00000027449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027449]
AlphaFold Q61839
Predicted Effect probably null
Transcript: ENSMUST00000027449
AA Change: *127W
SMART Domains Protein: ENSMUSP00000027449
Gene: ENSMUSG00000026241
AA Change: *127W

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 24 37 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
NAT_PEP 103 126 3e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the natriuretic peptide family. Natriuretic peptides are involved in the control of blood pressure, extracellular fluid volume and electrolyte homeostasis. The encoded protein also plays a role in sensory neuron bifurcation, and is a critical regulator of endochondral bone growth. The encoded protein is a ligand for the natriuretic peptide receptor B, and is synthesized as a preprohormone which is cleaved to produce a mature peptide. Mutations in this gene are associated with dwarfism resulting from impaired endochondral ossification. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe dwarfism due to impaired endochondral ossification. Mutants are viable at birth, but fewer than half survive postnatal development. Mice homozygous for a knock-out allele exhibit abnormal secondarysensory axon bifurcation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,274,901 (GRCm39) R82Q probably damaging Het
Acmsd A G 1: 127,687,492 (GRCm39) Y258C probably damaging Het
Anapc5 A G 5: 122,938,676 (GRCm39) I366T possibly damaging Het
Crkl C T 16: 17,287,098 (GRCm39) T218I probably benign Het
Egf A T 3: 129,500,956 (GRCm39) I213K possibly damaging Het
Fry A G 5: 150,360,491 (GRCm39) T33A probably benign Het
Garnl3 T C 2: 32,975,942 (GRCm39) D93G probably damaging Het
Hook3 C T 8: 26,560,293 (GRCm39) D311N probably damaging Het
Iglv3 T C 16: 19,060,420 (GRCm39) T4A probably benign Het
Kctd17 A G 15: 78,319,792 (GRCm39) N70S probably damaging Het
Kmt2d T C 15: 98,752,448 (GRCm39) probably benign Het
Lrif1 A C 3: 106,639,045 (GRCm39) L18F probably damaging Het
Mfsd1 A G 3: 67,505,465 (GRCm39) probably benign Het
Msh4 A G 3: 153,594,499 (GRCm39) Y101H probably damaging Het
Mycbpap G A 11: 94,400,708 (GRCm39) probably benign Het
Myt1 A G 2: 181,439,027 (GRCm39) D183G probably benign Het
Or10al3 G A 17: 38,011,883 (GRCm39) M107I probably damaging Het
Or1ak2 C T 2: 36,827,517 (GRCm39) P129S probably damaging Het
Or2n1e A G 17: 38,586,123 (GRCm39) I154V probably benign Het
Or51i2 T G 7: 103,689,663 (GRCm39) L220R probably damaging Het
Or8b3b T C 9: 38,584,342 (GRCm39) K146E possibly damaging Het
Pde5a A G 3: 122,618,664 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,365,296 (GRCm39) V1139A probably damaging Het
Pwwp2b G A 7: 138,835,021 (GRCm39) R154Q probably damaging Het
Satb2 C T 1: 56,910,677 (GRCm39) V264I probably damaging Het
Slc6a2 T A 8: 93,720,688 (GRCm39) F435Y probably benign Het
Stmn2 T C 3: 8,625,321 (GRCm39) probably benign Het
Synj1 A G 16: 90,784,307 (GRCm39) I277T probably damaging Het
Trio C T 15: 27,744,139 (GRCm39) A2598T probably damaging Het
Tshz2 G A 2: 169,726,684 (GRCm39) V427M probably damaging Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn1r173 G A 7: 23,402,586 (GRCm39) V274I probably benign Het
Vmn2r116 T C 17: 23,607,761 (GRCm39) F443S probably damaging Het
Vps13d C A 4: 144,882,671 (GRCm39) R974L probably damaging Het
Wapl T A 14: 34,399,218 (GRCm39) S96T possibly damaging Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zfp692 C T 11: 58,204,824 (GRCm39) R395* probably null Het
Other mutations in Nppc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0733:Nppc UTSW 1 86,597,356 (GRCm39) splice site probably benign
R3763:Nppc UTSW 1 86,597,580 (GRCm39) missense probably damaging 1.00
R9212:Nppc UTSW 1 86,597,619 (GRCm39) missense possibly damaging 0.68
Posted On 2015-04-16