Incidental Mutation 'R5209:Npr3'
ID 470595
Institutional Source Beutler Lab
Gene Symbol Npr3
Ensembl Gene ENSMUSG00000022206
Gene Name natriuretic peptide receptor 3
Synonyms lgj, Nppc receptor, B430320C24Rik, NPR-C, longjohn
MMRRC Submission 042784-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R5209 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 11839982-11907287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11848689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 426 (V426A)
Ref Sequence ENSEMBL: ENSMUSP00000066737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066529] [ENSMUST00000228489] [ENSMUST00000228603]
AlphaFold P70180
Predicted Effect possibly damaging
Transcript: ENSMUST00000066529
AA Change: V426A

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: V426A

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
Pfam:ANF_receptor 66 417 1e-59 PFAM
transmembrane domain 477 499 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226139
Predicted Effect possibly damaging
Transcript: ENSMUST00000228489
AA Change: V172A

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228603
AA Change: V426A

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1664 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous inactivation of this gene leads to partial postnatal lethality, altered blood homeostasis, polyuria, hypovolemia, hypotension, increased bone turnover, skeletal deformities and altered adipose morphology. Spontaneous and ENU-induced mutations cause a skeletal-overgrowth phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,832,130 (GRCm39) V500A probably benign Het
Abcg4 A G 9: 44,186,672 (GRCm39) Y491H probably damaging Het
Adgb C A 10: 10,274,681 (GRCm39) V759L possibly damaging Het
Adprhl1 T A 8: 13,292,563 (GRCm39) K243* probably null Het
Arhgap24 T A 5: 103,040,015 (GRCm39) D317E probably benign Het
Arhgef5 A T 6: 43,250,634 (GRCm39) I462F probably benign Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Btbd18 A G 2: 84,498,443 (GRCm39) T694A possibly damaging Het
Ces1d A T 8: 93,901,816 (GRCm39) probably benign Het
Chmp2a C A 7: 12,766,601 (GRCm39) V106F probably damaging Het
Cinp T C 12: 110,840,494 (GRCm39) E219G probably benign Het
Col5a3 C T 9: 20,689,939 (GRCm39) probably benign Het
Dnhd1 T G 7: 105,345,667 (GRCm39) S2271A probably benign Het
Epg5 T A 18: 77,994,497 (GRCm39) L376H probably damaging Het
Fam81a T C 9: 70,032,442 (GRCm39) T17A probably benign Het
Fgd2 T A 17: 29,587,350 (GRCm39) probably null Het
Gjc3 C T 5: 137,955,533 (GRCm39) V251I probably benign Het
Gnaz T G 10: 74,827,823 (GRCm39) F192V probably benign Het
Hmgcr T C 13: 96,803,020 (GRCm39) probably benign Het
Mamdc4 G T 2: 25,456,935 (GRCm39) A614E probably damaging Het
Mapk8ip2 A T 15: 89,343,490 (GRCm39) Q713L probably damaging Het
Mettl1 T C 10: 126,881,203 (GRCm39) V238A possibly damaging Het
Ms4a4c G A 19: 11,393,802 (GRCm39) G74E probably damaging Het
Msh3 A G 13: 92,481,462 (GRCm39) probably null Het
Mtmr14 T A 6: 113,230,736 (GRCm39) Y113* probably null Het
Mylk T C 16: 34,742,995 (GRCm39) L1169P possibly damaging Het
Or12d15 T C 17: 37,693,721 (GRCm39) S88P probably damaging Het
Or5au1 T C 14: 52,273,410 (GRCm39) T53A probably benign Het
Or6c202 A C 10: 128,996,801 (GRCm39) D17E possibly damaging Het
Or8b1c T A 9: 38,384,817 (GRCm39) M258K possibly damaging Het
Pcdhb17 T C 18: 37,620,514 (GRCm39) F768S probably damaging Het
Piezo2 T C 18: 63,166,000 (GRCm39) N2077S probably damaging Het
Pkd1l2 G A 8: 117,783,181 (GRCm39) P713L probably benign Het
Primpol T C 8: 47,043,295 (GRCm39) T333A probably benign Het
Pth2r A T 1: 65,427,856 (GRCm39) T510S probably benign Het
Ptprr A T 10: 115,998,514 (GRCm39) E208V probably damaging Het
Rag1 T C 2: 101,474,560 (GRCm39) Y194C probably benign Het
Reep5 A T 18: 34,490,293 (GRCm39) probably null Het
Rexo5 T A 7: 119,433,522 (GRCm39) Y493* probably null Het
Rgs9 T C 11: 109,130,420 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,593,129 (GRCm39) V218D probably damaging Het
Satb1 A T 17: 52,116,235 (GRCm39) M16K probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn14 A G 11: 83,170,459 (GRCm39) F395S possibly damaging Het
Spata31h1 T C 10: 82,119,652 (GRCm39) T4453A possibly damaging Het
Sptbn5 T A 2: 119,902,483 (GRCm39) I82F probably benign Het
Stam T A 2: 14,151,158 (GRCm39) I505K probably benign Het
Tesk2 G A 4: 116,581,895 (GRCm39) probably benign Het
Trappc12 T C 12: 28,787,793 (GRCm39) K430R probably benign Het
Trmo T C 4: 46,387,740 (GRCm39) N34D probably damaging Het
Ubr2 C A 17: 47,279,350 (GRCm39) C686F probably damaging Het
Vdac1 C T 11: 52,267,279 (GRCm39) T60I probably damaging Het
Zfp652 G C 11: 95,654,491 (GRCm39) R478P possibly damaging Het
Other mutations in Npr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Npr3 APN 15 11,895,780 (GRCm39) missense probably damaging 1.00
IGL01420:Npr3 APN 15 11,858,718 (GRCm39) missense probably damaging 1.00
IGL01599:Npr3 APN 15 11,895,875 (GRCm39) missense probably damaging 1.00
IGL01977:Npr3 APN 15 11,858,804 (GRCm39) missense probably damaging 1.00
eel UTSW 15 11,858,733 (GRCm39) missense probably damaging 0.99
Electric UTSW 15 11,848,689 (GRCm39) missense possibly damaging 0.73
Morray UTSW 15 11,851,536 (GRCm39) missense probably damaging 0.99
R0581:Npr3 UTSW 15 11,851,536 (GRCm39) missense probably damaging 0.99
R0607:Npr3 UTSW 15 11,845,368 (GRCm39) missense probably benign 0.32
R1554:Npr3 UTSW 15 11,848,649 (GRCm39) missense probably benign
R1779:Npr3 UTSW 15 11,851,572 (GRCm39) missense probably damaging 1.00
R1793:Npr3 UTSW 15 11,848,665 (GRCm39) missense probably benign 0.05
R1968:Npr3 UTSW 15 11,905,055 (GRCm39) missense probably benign 0.31
R2379:Npr3 UTSW 15 11,883,449 (GRCm39) missense probably damaging 0.99
R2883:Npr3 UTSW 15 11,883,410 (GRCm39) missense possibly damaging 0.50
R3080:Npr3 UTSW 15 11,905,235 (GRCm39) missense probably benign 0.01
R3745:Npr3 UTSW 15 11,905,577 (GRCm39) missense probably damaging 1.00
R3803:Npr3 UTSW 15 11,895,876 (GRCm39) missense probably damaging 1.00
R4166:Npr3 UTSW 15 11,848,599 (GRCm39) missense probably benign 0.32
R4411:Npr3 UTSW 15 11,905,235 (GRCm39) missense probably benign 0.01
R4412:Npr3 UTSW 15 11,905,235 (GRCm39) missense probably benign 0.01
R4667:Npr3 UTSW 15 11,905,553 (GRCm39) missense possibly damaging 0.58
R5742:Npr3 UTSW 15 11,883,494 (GRCm39) missense probably damaging 1.00
R6339:Npr3 UTSW 15 11,845,361 (GRCm39) missense probably damaging 0.99
R6605:Npr3 UTSW 15 11,905,518 (GRCm39) missense probably damaging 1.00
R6890:Npr3 UTSW 15 11,883,478 (GRCm39) missense possibly damaging 0.89
R7009:Npr3 UTSW 15 11,905,334 (GRCm39) missense probably damaging 1.00
R7371:Npr3 UTSW 15 11,845,376 (GRCm39) critical splice acceptor site probably null
R7582:Npr3 UTSW 15 11,895,768 (GRCm39) missense probably null 1.00
R7743:Npr3 UTSW 15 11,905,724 (GRCm39) start codon destroyed probably null 0.90
R7896:Npr3 UTSW 15 11,883,448 (GRCm39) missense probably damaging 1.00
R8672:Npr3 UTSW 15 11,851,579 (GRCm39) missense probably damaging 1.00
R8840:Npr3 UTSW 15 11,905,329 (GRCm39) missense probably damaging 0.98
S24628:Npr3 UTSW 15 11,848,649 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAGACTCATGTGATCCTGGG -3'
(R):5'- TGAGGCAGTCACAGTGTGC -3'

Sequencing Primer
(F):5'- CTGGGACGGGAGAAGGAG -3'
(R):5'- AGTCACAGTGTGCACTCCC -3'
Posted On 2017-03-20