Incidental Mutation 'R8232:Nppa'
ID 637171
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 067664-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R8232 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148085179-148086531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148085795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 134 (I134T)
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 possibly damaging
Transcript: ENSMUST00000103230
AA Change: I134T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099520
Gene: ENSMUSG00000041616
AA Change: I134T

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
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
Validation Efficiency 100% (34/34)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 A T 4: 49,450,817 (GRCm39) M98K probably damaging Het
Actn3 A T 19: 4,921,683 (GRCm39) W166R probably damaging Het
Adamts16 C A 13: 70,941,217 (GRCm39) C390F probably damaging Het
Arhgap32 A T 9: 32,168,198 (GRCm39) D727V probably damaging Het
Bcr A G 10: 75,001,883 (GRCm39) Y929C probably damaging Het
Bmp1 T A 14: 70,757,329 (GRCm39) Y50F probably damaging Het
Camta2 G A 11: 70,573,841 (GRCm39) R171C unknown Het
Ccnd2 A G 6: 127,127,549 (GRCm39) L63P probably damaging Het
Clip1 G C 5: 123,785,981 (GRCm39) D234E probably benign Het
Dnah9 A T 11: 65,746,149 (GRCm39) I3988N possibly damaging Het
Frmpd2 T G 14: 33,261,724 (GRCm39) I843S probably damaging Het
Gcgr A G 11: 120,427,328 (GRCm39) Y146C probably damaging Het
Gm5930 T G 14: 44,573,181 (GRCm39) K158T probably damaging Het
Gnl1 T A 17: 36,298,487 (GRCm39) C410* probably null Het
Gtf2h1 T A 7: 46,451,103 (GRCm39) I4K probably benign Het
Il12b A G 11: 44,299,401 (GRCm39) S157G possibly damaging Het
Jcad G T 18: 4,674,862 (GRCm39) A875S probably benign Het
Kcnrg T A 14: 61,845,386 (GRCm39) M142K probably benign Het
Krtap4-6 A C 11: 99,556,568 (GRCm39) L53R unknown Het
Myo10 G A 15: 25,804,400 (GRCm39) G1565D possibly damaging Het
Nf1 A G 11: 79,469,157 (GRCm39) S806G probably damaging Het
Nlrp5 G T 7: 23,116,770 (GRCm39) V165L probably benign Het
Or4a72 A T 2: 89,405,938 (GRCm39) V44E noncoding transcript Het
Or51ai2 G A 7: 103,586,980 (GRCm39) R131Q possibly damaging Het
Or5b107 A G 19: 13,142,683 (GRCm39) M102V probably benign Het
Or5p68 A T 7: 107,945,495 (GRCm39) M231K probably damaging Het
Or6c202 C A 10: 128,996,097 (GRCm39) C252F probably damaging Het
Scyl2 A T 10: 89,498,309 (GRCm39) F167I probably damaging Het
Smarcal1 T C 1: 72,665,722 (GRCm39) L740S probably damaging Het
Tmem183a T A 1: 134,277,918 (GRCm39) D282V probably damaging Het
Trhde A T 10: 114,636,442 (GRCm39) V255E possibly damaging Het
Vmn1r229 T A 17: 21,035,309 (GRCm39) C185S probably damaging Het
Vmn2r58 A T 7: 41,514,076 (GRCm39) M189K probably damaging Het
Vps50 T G 6: 3,600,139 (GRCm39) V866G 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
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
R8006:Nppa UTSW 4 148,085,638 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAGAAGATGAGGTCATGCCCC -3'
(R):5'- TGATACATGCATCAGGCTCTC -3'

Sequencing Primer
(F):5'- CCCTGAGTGAGCAGACTGAG -3'
(R):5'- ATACATGCATCAGGCTCTCAGCTG -3'
Posted On 2020-07-13