Incidental Mutation 'R5224:Nppa'
ID 402486
Institutional Source Beutler Lab
Gene Symbol Nppa
Ensembl Gene ENSMUSG00000041616
Gene Name natriuretic peptide type A
Synonyms ANP, atrial natriuretic peptide, Anf, Pnd, natriuretic peptide precursor A
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R5224 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148085179-148086531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148085773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 127 (S127P)
Ref Sequence ENSEMBL: ENSMUSP00000099520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000103230] [ENSMUST00000137724]
AlphaFold P05125
Predicted Effect probably benign
Transcript: ENSMUST00000030879
SMART Domains Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 138 571 5.5e-98 PFAM
CBS 609 658 1.68e-3 SMART
CBS 811 859 1.34e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103230
AA Change: S127P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099520
Gene: ENSMUSG00000041616
AA Change: S127P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9191 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 CGTGACCTTTCTGGT CGT 10: 85,481,386 (GRCm39) probably benign Het
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Depdc1b A G 13: 108,521,354 (GRCm39) D387G probably damaging Het
Dtx3l A G 16: 35,759,163 (GRCm39) Y29H possibly damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
Gphn T A 12: 78,637,361 (GRCm39) F354I probably damaging Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Sgms2 T A 3: 131,135,766 (GRCm39) K36I probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ubtfl1 G T 9: 18,321,326 (GRCm39) V285L probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R probably damaging Het
Other mutations in Nppa
AlleleSourceChrCoordTypePredicted EffectPPH Score
odara UTSW 4 148,085,773 (GRCm39) missense probably damaging 1.00
R1464:Nppa UTSW 4 148,085,304 (GRCm39) missense probably benign 0.00
R1464:Nppa UTSW 4 148,085,304 (GRCm39) missense probably benign 0.00
R4882:Nppa UTSW 4 148,085,544 (GRCm39) missense probably benign 0.13
R6482:Nppa UTSW 4 148,085,328 (GRCm39) missense probably benign 0.01
R8006:Nppa UTSW 4 148,085,638 (GRCm39) missense probably damaging 1.00
R8232:Nppa UTSW 4 148,085,795 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- GTAGAAGATGAGGTCATGCCCC -3'
(R):5'- CTCTCAGCTGCCAAAGATGCTC -3'

Sequencing Primer
(F):5'- CCCTGAGTGAGCAGACTGAG -3'
(R):5'- CAAAGATGCTCCCTGGTAGTGTC -3'
Posted On 2016-07-22