Incidental Mutation 'R4900:Npr1'
ID 376069
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 042504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4900 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90357898-90373173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90363272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 869 (D869E)
Ref Sequence ENSEMBL: ENSMUSP00000029540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029540]
AlphaFold P18293
Predicted Effect possibly damaging
Transcript: ENSMUST00000029540
AA Change: D869E

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: D869E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152510
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (84/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
Abtb2 A G 2: 103,397,349 (GRCm39) E93G possibly damaging Het
Adam5 A C 8: 25,232,172 (GRCm39) probably null Het
Adam5 G A 8: 25,271,619 (GRCm39) T596I probably damaging Het
Adgrb2 T A 4: 129,907,668 (GRCm39) Y1001N probably damaging Het
Aox1 T G 1: 58,344,544 (GRCm39) S546A probably benign Het
Asic2 T C 11: 81,464,280 (GRCm39) probably benign Het
Bcl11b T A 12: 107,955,957 (GRCm39) N64I probably damaging Het
Cacna1g A G 11: 94,350,177 (GRCm39) F556S possibly damaging Het
Cbl A G 9: 44,064,166 (GRCm39) V790A probably benign Het
Cd300c2 A T 11: 114,891,807 (GRCm39) C22* probably null Het
Cdh11 C T 8: 103,374,090 (GRCm39) probably null Het
Ces2g C T 8: 105,693,989 (GRCm39) Q442* probably null Het
Cps1 A T 1: 67,200,063 (GRCm39) T404S probably damaging Het
Csf2rb2 A T 15: 78,170,174 (GRCm39) probably null Het
Csmd2 A G 4: 128,346,318 (GRCm39) Y1526C probably benign Het
Cyp2a12 C T 7: 26,730,640 (GRCm39) Q202* probably null Het
Cyp2c39 G A 19: 39,502,020 (GRCm39) M136I probably benign Het
Cyp2j13 G A 4: 95,947,280 (GRCm39) T257I probably damaging Het
Dnah8 T A 17: 30,965,949 (GRCm39) L2427Q probably damaging Het
Dop1b G T 16: 93,560,318 (GRCm39) probably null Het
Entrep1 A G 19: 23,952,790 (GRCm39) S507P possibly damaging Het
Epcam T C 17: 87,951,049 (GRCm39) V212A possibly damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Flvcr2 T A 12: 85,829,756 (GRCm39) V255D probably damaging Het
Galc G T 12: 98,197,731 (GRCm39) T326K probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gen1 A T 12: 11,291,561 (GRCm39) Y808N probably benign Het
Glis1 C T 4: 107,476,761 (GRCm39) A306V probably damaging Het
Gm10638 A G 8: 87,473,028 (GRCm39) probably benign Het
Gm12789 G A 4: 101,846,182 (GRCm39) probably benign Het
Gm27048 C T 8: 81,661,228 (GRCm39) noncoding transcript Het
Gm4204 T C 1: 135,160,556 (GRCm39) noncoding transcript Het
Gm904 A T 13: 50,799,325 (GRCm39) I95F possibly damaging Het
Gvin3 T G 7: 106,197,793 (GRCm39) noncoding transcript Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ints11 G A 4: 155,972,887 (GRCm39) D526N probably benign Het
Itfg2 A G 6: 128,393,279 (GRCm39) probably benign Het
Jund T C 8: 71,152,254 (GRCm39) V183A probably damaging Het
Kcnj8 A G 6: 142,512,221 (GRCm39) S129P probably damaging Het
Kcnq3 A G 15: 65,867,259 (GRCm39) S795P probably damaging Het
Lhx8 G T 3: 154,035,925 (GRCm39) A22E probably benign Het
Lrp8 A G 4: 107,664,006 (GRCm39) probably benign Het
Lvrn G T 18: 47,026,768 (GRCm39) A789S probably damaging Het
Lvrn T C 18: 47,014,479 (GRCm39) S526P probably damaging Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Mroh8 T C 2: 157,070,647 (GRCm39) E568G probably benign Het
Ms4a4b C A 19: 11,440,503 (GRCm39) probably benign Het
Muc2 T C 7: 141,303,280 (GRCm39) F99S probably benign Het
Myo5c T A 9: 75,180,825 (GRCm39) I738N probably damaging Het
Naip6 A C 13: 100,433,477 (GRCm39) V1120G probably damaging Het
Ncl T C 1: 86,283,901 (GRCm39) T307A probably benign Het
Nup93 A G 8: 95,013,231 (GRCm39) T36A probably benign Het
Olfml2b C A 1: 170,489,947 (GRCm39) T189N probably damaging Het
Or4c12b A G 2: 89,647,312 (GRCm39) N208S possibly damaging Het
Or8b9 T C 9: 37,766,608 (GRCm39) F165L probably benign Het
P4htm A C 9: 108,456,427 (GRCm39) W458G probably damaging Het
Pdzrn4 G T 15: 92,668,638 (GRCm39) R930L probably damaging Het
Pgam5 G A 5: 110,408,301 (GRCm39) A240V probably damaging Het
Prex2 T C 1: 11,220,129 (GRCm39) probably benign Het
Ptpru T G 4: 131,515,693 (GRCm39) E897A probably damaging Het
Rapgef2 A T 3: 78,981,670 (GRCm39) N1256K probably benign Het
Rhbdl3 A G 11: 80,210,439 (GRCm39) E64G probably benign Het
Sel1l3 A T 5: 53,289,184 (GRCm39) L879Q probably damaging Het
Siah1a G T 8: 87,451,703 (GRCm39) D260E probably benign Het
Skint6 T C 4: 112,924,667 (GRCm39) I522V probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Smok3c T C 5: 138,062,813 (GRCm39) I100T probably damaging Het
Snx24 C A 18: 53,518,295 (GRCm39) Y141* probably null Het
Tigit A G 16: 43,469,594 (GRCm39) S166P probably damaging Het
Tmem183a C T 1: 134,275,904 (GRCm39) R324Q probably benign Het
Tmie T C 9: 110,696,001 (GRCm39) D130G possibly damaging Het
Uggt1 G A 1: 36,241,936 (GRCm39) R333* probably null Het
Vmn2r111 T C 17: 22,767,637 (GRCm39) N620S possibly damaging Het
Vmn2r12 T A 5: 109,240,852 (GRCm39) N87I probably damaging Het
Vmn2r92 A G 17: 18,404,605 (GRCm39) D583G probably benign Het
Zdhhc17 T C 10: 110,821,819 (GRCm39) D60G 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
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
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'- TGACCACCTGGAAGGCAAAG -3'
(R):5'- TTCTGCCTCAGTGAGTTCTAAAC -3'

Sequencing Primer
(F):5'- CACCTGGAAGGCAAAGGAAGC -3'
(R):5'- AGTTCTAAACTCTGCACGCG -3'
Posted On 2016-03-17