Incidental Mutation 'R3807:Npr1'
ID 274962
Institutional Source Beutler Lab
Gene Symbol Npr1
Ensembl Gene ENSMUSG00000027931
Gene Name natriuretic peptide receptor 1
Synonyms guanylyl cyclase-A, NPRA, NPR-A, GC-A
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90357898-90373173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90366033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 586 (V586E)
Ref Sequence ENSEMBL: ENSMUSP00000029540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029540]
AlphaFold P18293
Predicted Effect probably damaging
Transcript: ENSMUST00000029540
AA Change: V586E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: V586E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:ANF_receptor 50 410 4.7e-54 PFAM
low complexity region 468 488 N/A INTRINSIC
Pfam:Pkinase_Tyr 538 797 1.2e-39 PFAM
Pfam:Pkinase 543 796 8.7e-31 PFAM
CYCc 836 1030 5.04e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124760
SMART Domains Protein: ENSMUSP00000118023
Gene: ENSMUSG00000027931

DomainStartEndE-ValueType
PDB:3A3K|B 2 20 1e-8 PDB
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146991
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
PHENOTYPE: Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Npr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Npr1 APN 3 90,365,669 (GRCm39) missense probably damaging 1.00
IGL01432:Npr1 APN 3 90,370,543 (GRCm39) missense possibly damaging 0.85
IGL02106:Npr1 APN 3 90,372,165 (GRCm39) missense probably benign 0.12
IGL03310:Npr1 APN 3 90,363,298 (GRCm39) missense probably benign 0.30
PIT4581001:Npr1 UTSW 3 90,369,564 (GRCm39) missense probably damaging 1.00
R0010:Npr1 UTSW 3 90,362,139 (GRCm39) missense probably damaging 1.00
R0137:Npr1 UTSW 3 90,363,244 (GRCm39) missense probably damaging 1.00
R0384:Npr1 UTSW 3 90,372,474 (GRCm39) missense probably damaging 0.98
R0656:Npr1 UTSW 3 90,368,676 (GRCm39) missense probably benign
R0941:Npr1 UTSW 3 90,368,716 (GRCm39) missense probably benign
R0961:Npr1 UTSW 3 90,366,028 (GRCm39) missense possibly damaging 0.91
R1172:Npr1 UTSW 3 90,368,689 (GRCm39) missense probably benign 0.01
R1747:Npr1 UTSW 3 90,365,976 (GRCm39) missense possibly damaging 0.88
R1763:Npr1 UTSW 3 90,366,644 (GRCm39) missense probably damaging 0.98
R1900:Npr1 UTSW 3 90,369,495 (GRCm39) missense probably damaging 0.98
R4017:Npr1 UTSW 3 90,363,539 (GRCm39) missense probably damaging 1.00
R4437:Npr1 UTSW 3 90,363,593 (GRCm39) missense probably damaging 1.00
R4900:Npr1 UTSW 3 90,363,272 (GRCm39) missense possibly damaging 0.77
R5265:Npr1 UTSW 3 90,364,309 (GRCm39) missense probably benign 0.29
R5343:Npr1 UTSW 3 90,365,515 (GRCm39) missense possibly damaging 0.94
R5590:Npr1 UTSW 3 90,362,149 (GRCm39) missense probably damaging 0.99
R5868:Npr1 UTSW 3 90,366,800 (GRCm39) intron probably benign
R6782:Npr1 UTSW 3 90,363,560 (GRCm39) missense probably benign 0.18
R6828:Npr1 UTSW 3 90,372,120 (GRCm39) missense probably benign
R6903:Npr1 UTSW 3 90,362,452 (GRCm39) missense possibly damaging 0.67
R7592:Npr1 UTSW 3 90,372,323 (GRCm39) missense possibly damaging 0.52
R7841:Npr1 UTSW 3 90,362,175 (GRCm39) missense probably damaging 1.00
R8202:Npr1 UTSW 3 90,368,731 (GRCm39) missense probably benign
R8671:Npr1 UTSW 3 90,363,464 (GRCm39) unclassified probably benign
R8683:Npr1 UTSW 3 90,362,497 (GRCm39) missense probably benign 0.38
R8819:Npr1 UTSW 3 90,372,201 (GRCm39) missense probably damaging 0.96
R8820:Npr1 UTSW 3 90,372,201 (GRCm39) missense probably damaging 0.96
R9330:Npr1 UTSW 3 90,365,979 (GRCm39) missense possibly damaging 0.85
R9680:Npr1 UTSW 3 90,368,448 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTCCCATTTACAGAGAGGCC -3'
(R):5'- GTCATGAGAGATCACTGGGTCC -3'

Sequencing Primer
(F):5'- AGAGGAAGCTTATCTGGGCTC -3'
(R):5'- TCCTCCAGGGTCCAGACG -3'
Posted On 2015-04-02