Incidental Mutation 'R8006:Nppa'
ID 616617
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 046046-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R8006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 148085179-148086531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148085638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 82 (W82R)
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: W82R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099520
Gene: ENSMUSG00000041616
AA Change: W82R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T A 8: 41,248,944 (GRCm39) H351Q probably benign Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Akap13 T C 7: 75,229,444 (GRCm39) S126P probably damaging Het
Akip1 A G 7: 109,303,199 (GRCm39) D14G probably damaging Het
Ankhd1 A G 18: 36,781,772 (GRCm39) R287G Het
Ankrd13a A C 5: 114,942,484 (GRCm39) *589S probably null Het
Ankrd34c T C 9: 89,611,889 (GRCm39) I151V probably damaging Het
Ano5 T A 7: 51,243,518 (GRCm39) D880E probably benign Het
Arl3 A C 19: 46,546,813 (GRCm39) L4R probably damaging Het
Ate1 T A 7: 130,069,118 (GRCm39) Q340L probably damaging Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr3 C T 9: 108,706,306 (GRCm39) P930S probably damaging Het
Cfhr4 A G 1: 139,664,590 (GRCm39) Y490H probably damaging Het
Cox18 C T 5: 90,371,672 (GRCm39) V43M probably damaging Het
Ctnna3 A G 10: 63,417,790 (GRCm39) K176R probably benign Het
Fam135b T C 15: 71,334,183 (GRCm39) T1004A probably benign Het
Fam227a A G 15: 79,518,299 (GRCm39) I335T possibly damaging Het
Gm14496 A G 2: 181,637,669 (GRCm39) I248V probably benign Het
Gm6871 T C 7: 41,195,106 (GRCm39) T544A probably benign Het
Grm6 A T 11: 50,755,484 (GRCm39) *872L probably null Het
Herc1 T A 9: 66,352,842 (GRCm39) Y2109* probably null Het
Hsd11b2 T A 8: 106,245,735 (GRCm39) V80E possibly damaging Het
Itgb3 T C 11: 104,556,322 (GRCm39) V721A possibly damaging Het
Jade1 A T 3: 41,568,124 (GRCm39) I731L probably benign Het
Khnyn G A 14: 56,125,047 (GRCm39) V434I probably benign Het
Lrp1 A G 10: 127,425,488 (GRCm39) L714P probably damaging Het
Lrrc41 G A 4: 115,952,085 (GRCm39) E585K possibly damaging Het
Lrrfip1 A G 1: 91,004,673 (GRCm39) Y70C probably damaging Het
Mex3a T A 3: 88,444,393 (GRCm39) C490S probably damaging Het
Mmp27 C T 9: 7,578,985 (GRCm39) R387C probably damaging Het
Mro A T 18: 74,010,577 (GRCm39) D219V possibly damaging Het
Myot T A 18: 44,487,904 (GRCm39) L407Q probably damaging Het
Or10g6 T G 9: 39,933,770 (GRCm39) L27R probably damaging Het
Or52a20 T A 7: 103,366,532 (GRCm39) C244S probably damaging Het
Or5ak24 T C 2: 85,260,318 (GRCm39) N285S probably damaging Het
Phip T A 9: 82,772,179 (GRCm39) I1123L possibly damaging Het
Ppip5k2 A G 1: 97,661,831 (GRCm39) I695T probably benign Het
Ppp1r10 A T 17: 36,239,158 (GRCm39) M347L probably benign Het
Reln A T 5: 22,104,082 (GRCm39) C3296* probably null Het
Semp2l1 T A 1: 32,586,005 (GRCm39) probably benign Het
Slf2 T A 19: 44,930,756 (GRCm39) L611Q probably damaging Het
Spire1 G A 18: 67,634,251 (GRCm39) Q396* probably null Het
Taf2 A G 15: 54,912,097 (GRCm39) F537L probably damaging Het
Tbc1d16 C T 11: 119,046,898 (GRCm39) E451K probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tmem267 T A 13: 120,070,774 (GRCm39) V143E probably damaging Het
Tyw1 C T 5: 130,296,913 (GRCm39) R177W possibly damaging Het
Vcp A T 4: 42,985,993 (GRCm39) H340Q probably benign Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Wnk4 A G 11: 101,159,182 (GRCm39) D533G probably benign Het
Wwp1 A T 4: 19,650,174 (GRCm39) C331S probably benign Het
Zik1 A T 7: 10,224,100 (GRCm39) C332* probably null 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
R5224:Nppa UTSW 4 148,085,773 (GRCm39) missense probably damaging 1.00
R6482:Nppa UTSW 4 148,085,328 (GRCm39) missense probably benign 0.01
R8232:Nppa UTSW 4 148,085,795 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- ACCAGGGTCTCTTTGGTACTGG -3'
(R):5'- TTACCCGGAAGCTGTTGCAG -3'

Sequencing Primer
(F):5'- GTACTGGGTCCATTCCTGAGAC -3'
(R):5'- GTTGCAGCCTAGTCCACTCTGG -3'
Posted On 2020-01-23