Incidental Mutation 'R6482:Nppa'
ID 517157
Institutional Source Beutler Lab
Gene Symbol Nppa
Ensembl Gene ENSMUSG00000041616
Gene Name natriuretic peptide type A
Synonyms Anf, natriuretic peptide precursor A, Pnd, atrial natriuretic peptide, ANP
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R6482 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148000722-148002079 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148000871 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 13 (V13I)
Ref Sequence ENSEMBL: ENSMUSP00000099520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103230] [ENSMUST00000137724]
AlphaFold P05125
Predicted Effect probably benign
Transcript: ENSMUST00000103230
AA Change: V13I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099520
Gene: ENSMUSG00000041616
AA Change: V13I

signal peptide 1 24 N/A INTRINSIC
low complexity region 106 119 N/A INTRINSIC
NAT_PEP 122 145 1.38e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137724
SMART Domains Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016

low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 141 574 1.9e-101 PFAM
CBS 612 661 1.68e-3 SMART
CBS 814 862 1.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154192
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: This gene encodes members of the natriuretic family of peptides that play an important role in the control of extracellular fluid volume and electrolyte homeostasis. The encoded protein precursor undergoes proteolytic processing to generate multiple functional peptides. Mice lacking the encoded peptides exhibit salt-sensitive hypertension. The transgenic overexpression of the encoded peptides in mice decreases arterial blood pressure without inducing diuresis and natriuresis. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 4. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes are chronically hypertensive partly due to changes in peripheral resistance and increased central AT1-receptor activation, and show salt-sensitive hypertension and abnormal pulmonary vascular remodeling with increased ventricular mass and muscularization of peripheral pulmonary vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 70,011,562 I415V probably benign Het
Akap8l A G 17: 32,345,396 F6L possibly damaging Het
Ano3 T A 2: 110,697,055 N603Y probably damaging Het
Casp8ap2 T C 4: 32,634,813 S116P probably damaging Het
Ccdc110 A T 8: 45,942,788 Q572L probably benign Het
Chit1 T C 1: 134,143,242 S20P probably damaging Het
Col22a1 G A 15: 71,890,489 P107L possibly damaging Het
Dpys T C 15: 39,841,973 H248R probably damaging Het
Dsg2 A T 18: 20,601,314 K783I possibly damaging Het
Efnb2 A T 8: 8,620,637 V321E probably damaging Het
Fbxo11 A T 17: 88,012,658 Y209N probably benign Het
Gm21936 A G 12: 87,795,795 Y95C probably damaging Het
Gm35315 A T 5: 110,078,089 C495S possibly damaging Het
Hrh1 A G 6: 114,480,763 Q335R possibly damaging Het
Il12rb2 A G 6: 67,356,686 L203P probably damaging Het
Itgav T C 2: 83,794,270 S735P probably damaging Het
Klrg1 G T 6: 122,271,453 C162* probably null Het
Mcc T C 18: 44,445,864 S651G possibly damaging Het
Nkx2-2 T A 2: 147,185,976 I15F probably damaging Het
Olfr1104 G C 2: 87,022,525 F6L probably benign Het
Pde2a A G 7: 101,501,037 N228D probably benign Het
Pgpep1l C T 7: 68,239,067 probably null Het
Plekhg3 A G 12: 76,576,004 N673D probably benign Het
Plxna4 A G 6: 32,516,737 S315P probably benign Het
Psg21 A T 7: 18,654,739 probably null Het
Rnf111 T C 9: 70,429,607 T925A probably damaging Het
Rnf219 A T 14: 104,479,817 C373* probably null Het
Spag9 T C 11: 94,093,502 F734L possibly damaging Het
Tarbp1 A G 8: 126,450,695 V746A probably benign Het
Tmtc1 A G 6: 148,412,745 F119L probably benign Het
Ttc21b A G 2: 66,226,900 M576T probably benign Het
Usp48 T A 4: 137,634,921 V765E probably damaging Het
Vmn1r20 A G 6: 57,432,108 S140G probably benign Het
Vwde A G 6: 13,205,844 S235P probably damaging Het
Wapl A G 14: 34,692,692 S504G probably benign Het
Wnt5b A T 6: 119,433,612 L289Q possibly damaging Het
Zfp142 G A 1: 74,570,217 probably null Het
Zfp385b ATCTTCTTCTTCT ATCTTCTTCTTCTTCT 2: 77,719,648 probably benign Het
Zfp948 A G 17: 21,587,551 H335R probably benign Het
Other mutations in Nppa
AlleleSourceChrCoordTypePredicted EffectPPH Score
odara UTSW 4 148001316 missense probably damaging 1.00
R1464:Nppa UTSW 4 148000847 missense probably benign 0.00
R1464:Nppa UTSW 4 148000847 missense probably benign 0.00
R4882:Nppa UTSW 4 148001087 missense probably benign 0.13
R5224:Nppa UTSW 4 148001316 missense probably damaging 1.00
R8006:Nppa UTSW 4 148001181 missense probably damaging 1.00
R8232:Nppa UTSW 4 148001338 missense possibly damaging 0.72
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-21