Incidental Mutation 'R6782:Npr1'
ID 531453
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 044896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6782 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 90357898-90373173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90363560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 821 (N821S)
Ref Sequence ENSEMBL: ENSMUSP00000029540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029540]
AlphaFold P18293
Predicted Effect probably benign
Transcript: ENSMUST00000029540
AA Change: N821S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: N821S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,847,308 (GRCm39) A724V probably damaging Het
Abcc3 A T 11: 94,249,776 (GRCm39) F1055L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Ankrd17 T C 5: 90,402,597 (GRCm39) K1488R possibly damaging Het
Ano1 G A 7: 144,175,424 (GRCm39) T498I probably damaging Het
Arhgap42 T A 9: 9,115,721 (GRCm39) K118N probably damaging Het
Arl5b A G 2: 15,077,993 (GRCm39) E106G probably damaging Het
Atp5mc3 C T 2: 73,739,672 (GRCm39) R56Q probably benign Het
Bbx T C 16: 50,020,928 (GRCm39) R749G probably benign Het
Cacna1g A G 11: 94,350,376 (GRCm39) S490P probably damaging Het
Ccdc63 A T 5: 122,249,077 (GRCm39) Y417* probably null Het
Cep162 A T 9: 87,093,737 (GRCm39) N880K probably benign Het
Chd2 G A 7: 73,125,127 (GRCm39) Q77* probably null Het
Cntrl T G 2: 35,060,658 (GRCm39) M1397R possibly damaging Het
Dcaf7 A G 11: 105,945,581 (GRCm39) Y310C probably damaging Het
Dnah5 T A 15: 28,449,302 (GRCm39) S4235T possibly damaging Het
Dot1l C T 10: 80,625,224 (GRCm39) P1157L probably damaging Het
Esco2 T C 14: 66,057,465 (GRCm39) T577A probably benign Het
Foxp1 T C 6: 98,907,106 (GRCm39) D624G probably damaging Het
Gfi1 A T 5: 107,873,819 (GRCm39) probably null Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm5113 G A 7: 29,878,178 (GRCm39) V89I probably benign Het
Gtf3c2 A C 5: 31,327,180 (GRCm39) L382R probably benign Het
H3c2 T C 13: 23,936,393 (GRCm39) S11P probably benign Het
Hhip T C 8: 80,778,233 (GRCm39) N99S probably damaging Het
Htr5b T C 1: 121,438,227 (GRCm39) I335V probably benign Het
Ifi206 A G 1: 173,308,923 (GRCm39) S358P unknown Het
Loxhd1 T A 18: 77,518,873 (GRCm39) V1893D probably damaging Het
Mical2 A G 7: 111,945,968 (GRCm39) R11G probably damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Or4g16 A G 2: 111,137,090 (GRCm39) D180G probably damaging Het
Or52a24 A G 7: 103,381,549 (GRCm39) T139A possibly damaging Het
Or5p63 T C 7: 107,811,670 (GRCm39) D22G probably benign Het
Or5p70 T G 7: 107,994,744 (GRCm39) M139R probably damaging Het
Pi4ka T A 16: 17,143,852 (GRCm39) D739V probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Ptprd T C 4: 76,243,377 (GRCm39) probably null Het
Ralgapb G A 2: 158,278,486 (GRCm39) G5R probably damaging Het
Ric8b T C 10: 84,783,391 (GRCm39) V83A probably damaging Het
Sdc2 C A 15: 33,028,281 (GRCm39) T133K probably damaging Het
Slc12a7 T A 13: 73,947,088 (GRCm39) V592D probably damaging Het
Sorcs1 G T 19: 50,164,560 (GRCm39) Y990* probably null Het
Spata13 G T 14: 60,928,912 (GRCm39) G157W probably damaging Het
Tada1 A G 1: 166,217,541 (GRCm39) N226S probably benign Het
Tenm3 A G 8: 49,099,291 (GRCm39) probably null Het
Tll1 A G 8: 64,524,315 (GRCm39) V457A probably benign Het
Tmem232 T C 17: 65,807,119 (GRCm39) K25E possibly damaging Het
Tnrc18 T C 5: 142,773,063 (GRCm39) S406G unknown Het
Ush2a A G 1: 188,089,031 (GRCm39) M329V probably benign Het
Vmn2r107 T C 17: 20,577,141 (GRCm39) S380P probably damaging Het
Vmn2r73 A G 7: 85,519,563 (GRCm39) M465T probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp217 T C 2: 169,958,178 (GRCm39) D463G probably damaging Het
Zfp345 T C 2: 150,315,274 (GRCm39) S88G probably damaging Het
Zfp975 A C 7: 42,311,454 (GRCm39) N386K probably benign 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
R3807:Npr1 UTSW 3 90,366,033 (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
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'- AAATGCCTCAGCCTGGACTG -3'
(R):5'- AGAGACCCTGTCTTTAAGGGTG -3'

Sequencing Primer
(F):5'- TCAGCCACAGAGCTGAGG -3'
(R):5'- CCTGTCTTTAAGGGTGGGGCAG -3'
Posted On 2018-08-29