Incidental Mutation 'R3745:Npr3'
ID 271185
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 040731-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R3745 (G1)
Quality Score 102
Status Validated
Chromosome 15
Chromosomal Location 11839982-11907287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11905577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 50 (V50E)
Ref Sequence ENSEMBL: ENSMUSP00000154180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066529] [ENSMUST00000228489] [ENSMUST00000228603]
AlphaFold P70180
Predicted Effect probably damaging
Transcript: ENSMUST00000066529
AA Change: V50E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: V50E

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: ENSMUST00000226878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227557
Predicted Effect probably benign
Transcript: ENSMUST00000228489
Predicted Effect probably damaging
Transcript: ENSMUST00000228603
AA Change: V50E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.4853 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot9 G A X: 154,054,941 (GRCm39) probably benign Het
Akap10 A G 11: 61,806,131 (GRCm39) V199A probably benign Het
Aox4 C T 1: 58,285,029 (GRCm39) H594Y probably damaging Het
Arhgap35 A T 7: 16,297,647 (GRCm39) Y473N probably damaging Het
Aspn G A 13: 49,720,036 (GRCm39) E351K probably damaging Het
Astn1 G T 1: 158,329,630 (GRCm39) A162S probably damaging Het
Atosa T C 9: 74,917,144 (GRCm39) V581A probably benign Het
Auts2 A G 5: 131,505,425 (GRCm39) probably benign Het
Cog6 A T 3: 52,900,240 (GRCm39) M507K probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Cyp2d11 A C 15: 82,276,056 (GRCm39) I175S probably benign Het
Dclk1 A G 3: 55,154,863 (GRCm39) N98D possibly damaging Het
Erich5 T A 15: 34,470,878 (GRCm39) C36S probably damaging Het
F5 A G 1: 164,014,348 (GRCm39) I540V possibly damaging Het
Fam20a A T 11: 109,568,616 (GRCm39) S303R probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gbp9 C A 5: 105,253,724 (GRCm39) probably benign Het
Gm6408 G T 5: 146,421,246 (GRCm39) V292F probably damaging Het
Kmt2a A G 9: 44,742,637 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,006,717 (GRCm39) D1136G probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mlkl A G 8: 112,042,199 (GRCm39) probably benign Het
Msantd1 T A 5: 35,080,811 (GRCm39) V155E possibly damaging Het
Myo3b A G 2: 70,064,829 (GRCm39) probably benign Het
Nbn T A 4: 15,976,163 (GRCm39) C375S possibly damaging Het
Nell2 A C 15: 95,330,554 (GRCm39) C231W probably damaging Het
Nipbl A G 15: 8,388,358 (GRCm39) S421P probably benign Het
Or4d10 A G 19: 12,051,744 (GRCm39) L84P probably damaging Het
Pclo T C 5: 14,728,435 (GRCm39) probably benign Het
Pkn3 A G 2: 29,980,353 (GRCm39) K785R probably damaging Het
Ppef2 T A 5: 92,387,010 (GRCm39) probably benign Het
Prdm10 T C 9: 31,251,703 (GRCm39) I357T possibly damaging Het
Prrc2c G A 1: 162,525,754 (GRCm39) T284I unknown Het
Psma3 T C 12: 71,025,522 (GRCm39) S13P possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rpl6l T C 10: 110,962,226 (GRCm39) noncoding transcript Het
Tex11 A G X: 99,960,178 (GRCm39) V522A probably benign Het
Thsd7b A G 1: 129,605,978 (GRCm39) E573G probably benign Het
Tom1l1 A G 11: 90,548,567 (GRCm39) S259P probably benign Het
Trpm8 A G 1: 88,276,049 (GRCm39) E549G probably benign Het
Vmn1r66 C T 7: 10,008,248 (GRCm39) A262T possibly damaging Het
Zc3h13 T A 14: 75,568,101 (GRCm39) D1131E probably benign Het
Zfp445 A C 9: 122,683,791 (GRCm39) D289E probably benign 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
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
R5209:Npr3 UTSW 15 11,848,689 (GRCm39) missense possibly damaging 0.73
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'- TCCACAAGACTGAAGAGCGC -3'
(R):5'- CTATCTTTTGGCGAGTTACTGAAG -3'

Sequencing Primer
(F):5'- TGAAGAGCGCGCGGTTG -3'
(R):5'- CGAGTTACTGAAGGGGGTATTC -3'
Posted On 2015-03-18