Incidental Mutation 'R0961:Npr1'
ID 81865
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 039090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R0961 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90357898-90373173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90366028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 588 (N588D)
Ref Sequence ENSEMBL: ENSMUSP00000029540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029540]
AlphaFold P18293
Predicted Effect possibly damaging
Transcript: ENSMUST00000029540
AA Change: N588D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: N588D

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
Meta Mutation Damage Score 0.1675 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.6%
  • 20x: 89.7%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,686 (GRCm39) S331A probably benign Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4933412E24Rik T C 15: 59,887,160 (GRCm39) I427V probably benign Het
Abca15 A T 7: 119,960,208 (GRCm39) K664* probably null Het
Adcy8 A G 15: 64,626,711 (GRCm39) V709A possibly damaging Het
Aox1 T A 1: 58,349,230 (GRCm39) D665E probably benign Het
Arhgap22 C T 14: 33,089,070 (GRCm39) T352M probably damaging Het
Atg9a G A 1: 75,163,390 (GRCm39) L237F probably damaging Het
Ccdc178 T G 18: 22,152,098 (GRCm39) K672T possibly damaging Het
Ccdc63 T G 5: 122,249,009 (GRCm39) K440T possibly damaging Het
Cd55b A T 1: 130,341,813 (GRCm39) W275R probably damaging Het
Col4a3 T C 1: 82,686,297 (GRCm39) probably benign Het
Dmpk C G 7: 18,821,195 (GRCm39) D204E probably damaging Het
Egfr T C 11: 16,812,964 (GRCm39) V148A probably damaging Het
F11 A T 8: 45,694,531 (GRCm39) V610E probably damaging Het
Fam83b A T 9: 76,398,577 (GRCm39) I842N probably damaging Het
Fbxw9 T C 8: 85,788,658 (GRCm39) Y165H probably benign Het
Fzd6 C T 15: 38,889,073 (GRCm39) L64F probably damaging Het
Galntl6 A T 8: 59,364,374 (GRCm39) H45Q probably benign Het
Gbp7 C A 3: 142,247,318 (GRCm39) S276* probably null Het
Gnb5 A T 9: 75,242,933 (GRCm39) I168F probably damaging Het
Gon4l T C 3: 88,805,403 (GRCm39) probably benign Het
Gpat4 C T 8: 23,670,927 (GRCm39) C95Y probably damaging Het
Gstm7 T A 3: 107,834,302 (GRCm39) probably benign Het
Hyal4 A G 6: 24,755,745 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kank4 G A 4: 98,644,756 (GRCm39) R999W probably benign Het
Kdm2a A G 19: 4,379,219 (GRCm39) V92A probably benign Het
Klhl9 T C 4: 88,639,974 (GRCm39) D89G probably benign Het
Klre1 A G 6: 129,559,378 (GRCm39) T103A probably benign Het
Lamc1 CGCTGGC CGC 1: 153,097,392 (GRCm39) probably null Het
Lamc1 G T 1: 153,097,446 (GRCm39) L1533I probably benign Het
Lca5l T C 16: 95,962,560 (GRCm39) H455R possibly damaging Het
Lmo7 C A 14: 102,031,705 (GRCm39) T33K probably benign Het
Lrig1 A G 6: 94,640,895 (GRCm39) probably benign Het
Mep1b T A 18: 21,221,786 (GRCm39) Y245* probably null Het
Mettl24 A G 10: 40,686,615 (GRCm39) T331A possibly damaging Het
Mycbp2 A C 14: 103,422,271 (GRCm39) D2467E probably damaging Het
Myo15b T C 11: 115,773,280 (GRCm39) S1871P probably benign Het
Ncbp1 T C 4: 46,165,193 (GRCm39) L502P possibly damaging Het
Or2g7 T A 17: 38,378,814 (GRCm39) Y251N probably damaging Het
Or8k16 A T 2: 85,519,790 (GRCm39) T6S probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Phactr4 A G 4: 132,105,731 (GRCm39) S112P probably benign Het
R3hdm1 C T 1: 128,121,333 (GRCm39) T279I probably benign Het
Rere A G 4: 150,699,829 (GRCm39) probably benign Het
Ryr1 T A 7: 28,709,122 (GRCm39) E4779V unknown Het
Sh2d4b A G 14: 40,596,139 (GRCm39) V81A probably benign Het
Slc10a5 T C 3: 10,399,484 (GRCm39) H392R probably benign Het
Slc26a4 T C 12: 31,585,618 (GRCm39) T477A probably benign Het
Spata31d1b T C 13: 59,865,618 (GRCm39) V922A possibly damaging Het
Sptan1 T A 2: 29,870,075 (GRCm39) probably null Het
Stard9 A G 2: 120,523,920 (GRCm39) D705G probably benign Het
Tdpoz3 T A 3: 93,734,188 (GRCm39) S288T probably benign Het
Tsga10 A G 1: 37,800,509 (GRCm39) probably null Het
Usp18 G A 6: 121,238,452 (GRCm39) A200T probably benign Het
Zfp759 A T 13: 67,287,927 (GRCm39) T493S 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
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
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'- GTGAGTACCGAAACATCCAGTCCAG -3'
(R):5'- AGACGGGTTGTCCTCATAGGTACAG -3'

Sequencing Primer
(F):5'- ccaactcccatttacagagagg -3'
(R):5'- TGTCCTCATAGGTACAGCCAGG -3'
Posted On 2013-11-08