Incidental Mutation 'R1763:Npr1'
ID 193174
Institutional Source Beutler Lab
Gene Symbol Npr1
Ensembl Gene ENSMUSG00000027931
Gene Name natriuretic peptide receptor 1
Synonyms NPRA, guanylyl cyclase-A, GC-A, NPR-A
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90450591-90465866 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90459337 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 552 (T552A)
Ref Sequence ENSEMBL: ENSMUSP00000029540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029540]
AlphaFold P18293
Predicted Effect probably damaging
Transcript: ENSMUST00000029540
AA Change: T552A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: T552A

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

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
Meta Mutation Damage Score 0.3751 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,669,959 (GRCm38) V401A probably benign Het
Abca4 G A 3: 122,110,681 (GRCm38) V794M probably benign Het
Abca4 A T 3: 122,163,830 (GRCm38) T772S probably damaging Het
Acox3 G A 5: 35,608,339 (GRCm38) probably null Het
Adamts17 A G 7: 67,147,715 (GRCm38) N1060S probably damaging Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Als2 T C 1: 59,174,991 (GRCm38) Y1346C probably benign Het
Apol10b A T 15: 77,585,015 (GRCm38) F321I probably benign Het
Atp5pb A G 3: 105,951,589 (GRCm38) probably null Het
Bloc1s5 A G 13: 38,619,084 (GRCm38) probably benign Het
Btbd9 T C 17: 30,334,297 (GRCm38) N397S possibly damaging Het
Cacna1d A G 14: 30,099,196 (GRCm38) V1121A probably benign Het
Cad G A 5: 31,060,951 (GRCm38) V460I probably damaging Het
Caprin2 A T 6: 148,843,121 (GRCm38) D935E probably damaging Het
Ccdc150 A T 1: 54,354,636 (GRCm38) K686N probably benign Het
Ccnt2 T C 1: 127,799,406 (GRCm38) F186L possibly damaging Het
Cd5l G A 3: 87,367,880 (GRCm38) probably null Het
Chrna7 A G 7: 63,099,252 (GRCm38) V494A probably benign Het
Clec2i T G 6: 128,895,425 (GRCm38) Y198* probably null Het
Col22a1 A G 15: 72,007,176 (GRCm38) V44A probably damaging Het
Cspg4 T A 9: 56,886,979 (GRCm38) I666N probably damaging Het
Cyp3a16 A T 5: 145,465,031 (GRCm38) probably null Het
Dlk1 G T 12: 109,458,119 (GRCm38) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 55,080,176 (GRCm38) probably benign Het
Dscc1 T A 15: 55,084,139 (GRCm38) H215L probably damaging Het
Dus1l C G 11: 120,795,671 (GRCm38) G15R probably benign Het
Eps8l1 G T 7: 4,471,823 (GRCm38) V268L probably benign Het
F2 A C 2: 91,634,906 (GRCm38) C104W probably damaging Het
F5 C A 1: 164,192,535 (GRCm38) Q860K probably benign Het
Fmn2 T C 1: 174,502,266 (GRCm38) L74P unknown Het
Frmd6 G A 12: 70,893,622 (GRCm38) R347Q possibly damaging Het
Gabbr1 T G 17: 37,054,767 (GRCm38) S158A probably damaging Het
Galc T C 12: 98,234,266 (GRCm38) N295S probably damaging Het
Gm6408 A T 5: 146,482,322 (GRCm38) N49I probably damaging Het
Grm1 T A 10: 11,079,866 (GRCm38) T225S possibly damaging Het
Grm8 C T 6: 27,285,867 (GRCm38) V849I possibly damaging Het
Hmcn2 A G 2: 31,314,590 (GRCm38) D59G probably damaging Het
Iars1 G A 13: 49,723,077 (GRCm38) probably null Het
Ifi27 C T 12: 103,437,682 (GRCm38) A127V possibly damaging Het
Ikbip A G 10: 91,096,481 (GRCm38) N329S probably damaging Het
Ikbke T C 1: 131,265,877 (GRCm38) T479A probably benign Het
Krt12 T A 11: 99,416,060 (GRCm38) N472I probably damaging Het
Lmnb2 A T 10: 80,907,191 (GRCm38) L193Q probably damaging Het
Lrriq4 T C 3: 30,650,252 (GRCm38) V128A probably benign Het
Map4k4 C A 1: 40,000,757 (GRCm38) probably benign Het
Mtmr7 T C 8: 40,551,811 (GRCm38) T575A probably benign Het
Myh13 G A 11: 67,334,576 (GRCm38) A256T probably benign Het
Napepld A G 5: 21,683,410 (GRCm38) Y14H probably benign Het
Nudt15 A G 14: 73,521,647 (GRCm38) F127S probably benign Het
Nwd2 T A 5: 63,808,271 (GRCm38) S1733T probably benign Het
Or11a4 T C 17: 37,225,430 (GRCm38) F102L probably benign Het
Or4c102 A G 2: 88,592,436 (GRCm38) I211V probably benign Het
Or4c10b G A 2: 89,881,129 (GRCm38) G101E probably damaging Het
Or6z1 T G 7: 6,501,441 (GRCm38) I262L probably benign Het
Or8b44 A G 9: 38,499,038 (GRCm38) Y123C probably damaging Het
Paqr7 A T 4: 134,507,098 (GRCm38) I89F probably benign Het
Pidd1 C A 7: 141,439,630 (GRCm38) V706L probably benign Het
Polr3c A T 3: 96,713,595 (GRCm38) I469N probably damaging Het
Ppip5k1 A G 2: 121,348,547 (GRCm38) Y233H probably damaging Het
Psmc3 A G 2: 91,055,995 (GRCm38) T166A possibly damaging Het
Ptchd3 A T 11: 121,842,542 (GRCm38) I753L probably benign Het
Rad21 T C 15: 51,978,170 (GRCm38) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm38) E479G possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Rgs20 C T 1: 4,910,640 (GRCm38) R154Q probably damaging Het
Sbf1 T C 15: 89,294,425 (GRCm38) D1449G probably damaging Het
Sema4g C T 19: 45,001,605 (GRCm38) R708* probably null Het
Septin9 T C 11: 117,290,428 (GRCm38) I18T probably benign Het
Serpinb6b A G 13: 32,978,058 (GRCm38) E280G probably damaging Het
Slamf6 T C 1: 171,942,587 (GRCm38) probably benign Het
Slc6a21 G A 7: 45,287,734 (GRCm38) W554* probably null Het
Slco1a4 A C 6: 141,812,731 (GRCm38) I518R probably benign Het
Stab1 T A 14: 31,168,416 (GRCm38) Q26L probably benign Het
Stox1 A G 10: 62,667,965 (GRCm38) F104L probably damaging Het
Suco T C 1: 161,834,949 (GRCm38) K638E possibly damaging Het
Synpo T C 18: 60,602,784 (GRCm38) K458E probably damaging Het
Szt2 A T 4: 118,372,368 (GRCm38) W2820R unknown Het
Tmtc1 C A 6: 148,294,618 (GRCm38) G499W probably damaging Het
Tonsl A C 15: 76,638,066 (GRCm38) S242R probably damaging Het
Trpc4 G T 3: 54,194,822 (GRCm38) S47I possibly damaging Het
Zfp106 G A 2: 120,520,428 (GRCm38) R1581C probably benign Het
Zfp27 A G 7: 29,895,376 (GRCm38) L388P possibly damaging Het
Other mutations in Npr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Npr1 APN 3 90,458,362 (GRCm38) missense probably damaging 1.00
IGL01432:Npr1 APN 3 90,463,236 (GRCm38) missense possibly damaging 0.85
IGL02106:Npr1 APN 3 90,464,858 (GRCm38) missense probably benign 0.12
IGL03310:Npr1 APN 3 90,455,991 (GRCm38) missense probably benign 0.30
PIT4581001:Npr1 UTSW 3 90,462,257 (GRCm38) missense probably damaging 1.00
R0010:Npr1 UTSW 3 90,454,832 (GRCm38) missense probably damaging 1.00
R0137:Npr1 UTSW 3 90,455,937 (GRCm38) missense probably damaging 1.00
R0384:Npr1 UTSW 3 90,465,167 (GRCm38) missense probably damaging 0.98
R0656:Npr1 UTSW 3 90,461,369 (GRCm38) missense probably benign
R0941:Npr1 UTSW 3 90,461,409 (GRCm38) missense probably benign
R0961:Npr1 UTSW 3 90,458,721 (GRCm38) missense possibly damaging 0.91
R1172:Npr1 UTSW 3 90,461,382 (GRCm38) missense probably benign 0.01
R1747:Npr1 UTSW 3 90,458,669 (GRCm38) missense possibly damaging 0.88
R1900:Npr1 UTSW 3 90,462,188 (GRCm38) missense probably damaging 0.98
R3807:Npr1 UTSW 3 90,458,726 (GRCm38) missense probably damaging 0.98
R4017:Npr1 UTSW 3 90,456,232 (GRCm38) missense probably damaging 1.00
R4437:Npr1 UTSW 3 90,456,286 (GRCm38) missense probably damaging 1.00
R4900:Npr1 UTSW 3 90,455,965 (GRCm38) missense possibly damaging 0.77
R5265:Npr1 UTSW 3 90,457,002 (GRCm38) missense probably benign 0.29
R5343:Npr1 UTSW 3 90,458,208 (GRCm38) missense possibly damaging 0.94
R5590:Npr1 UTSW 3 90,454,842 (GRCm38) missense probably damaging 0.99
R5868:Npr1 UTSW 3 90,459,493 (GRCm38) intron probably benign
R6782:Npr1 UTSW 3 90,456,253 (GRCm38) missense probably benign 0.18
R6828:Npr1 UTSW 3 90,464,813 (GRCm38) missense probably benign
R6903:Npr1 UTSW 3 90,455,145 (GRCm38) missense possibly damaging 0.67
R7592:Npr1 UTSW 3 90,465,016 (GRCm38) missense possibly damaging 0.52
R7841:Npr1 UTSW 3 90,454,868 (GRCm38) missense probably damaging 1.00
R8202:Npr1 UTSW 3 90,461,424 (GRCm38) missense probably benign
R8671:Npr1 UTSW 3 90,456,157 (GRCm38) unclassified probably benign
R8683:Npr1 UTSW 3 90,455,190 (GRCm38) missense probably benign 0.38
R8819:Npr1 UTSW 3 90,464,894 (GRCm38) missense probably damaging 0.96
R8820:Npr1 UTSW 3 90,464,894 (GRCm38) missense probably damaging 0.96
R9330:Npr1 UTSW 3 90,458,672 (GRCm38) missense possibly damaging 0.85
R9680:Npr1 UTSW 3 90,461,141 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- ctgagctaaagagtgagagcc -3'
Posted On 2014-05-23