Incidental Mutation 'R6339:Npr3'
ID 513850
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 044493-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R6339 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 11839982-11907287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11845361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 504 (I504V)
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: I505V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: I505V

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 probably damaging
Transcript: ENSMUST00000228489
AA Change: I250V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000228603
AA Change: I504V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.1422 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 97% (69/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933424G06Rik A T 1: 36,749,542 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,310,091 (GRCm39) S743R probably damaging Het
Ak8 A G 2: 28,624,460 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,877 (GRCm39) M377T probably benign Het
Ap1g1 G A 8: 110,571,000 (GRCm39) V425I possibly damaging Het
Apob A T 12: 8,066,188 (GRCm39) R4353W probably damaging Het
Arhgef38 T C 3: 132,839,423 (GRCm39) K540R probably benign Het
B3galt2 A T 1: 143,522,640 (GRCm39) T259S possibly damaging Het
Btbd8 G A 5: 107,651,583 (GRCm39) V159I probably benign Het
C2cd2l T C 9: 44,224,788 (GRCm39) probably benign Het
Carmil3 T C 14: 55,737,306 (GRCm39) V763A possibly damaging Het
Ccdc171 A T 4: 83,661,234 (GRCm39) T1115S probably damaging Het
Chst2 C T 9: 95,287,803 (GRCm39) G181D probably damaging Het
Col7a1 C T 9: 108,785,701 (GRCm39) T390M unknown Het
Cpt1a A C 19: 3,412,152 (GRCm39) D208A probably benign Het
Crocc2 A G 1: 93,141,754 (GRCm39) E1183G probably benign Het
Defa39 G A 8: 22,193,485 (GRCm39) S45F possibly damaging Het
Dlg5 T A 14: 24,208,128 (GRCm39) H1003L probably damaging Het
Dok2 A T 14: 71,013,158 (GRCm39) I109L probably benign Het
Dpy19l4 A T 4: 11,285,111 (GRCm39) I465K probably damaging Het
Dync1h1 A T 12: 110,612,639 (GRCm39) D2838V probably damaging Het
Frem3 A G 8: 81,339,644 (GRCm39) R646G possibly damaging Het
Gcfc2 T A 6: 81,923,477 (GRCm39) F514I probably damaging Het
Gm8104 T C 14: 42,958,942 (GRCm39) M44T probably benign Het
Golph3l T A 3: 95,524,750 (GRCm39) W334R probably damaging Het
Gpr179 A T 11: 97,235,002 (GRCm39) F443I probably damaging Het
Ift172 A G 5: 31,413,927 (GRCm39) V1467A probably benign Het
Ift172 A T 5: 31,444,289 (GRCm39) D44E probably damaging Het
Il1rl1 C T 1: 40,501,016 (GRCm39) A464V possibly damaging Het
Irx5 A G 8: 93,086,481 (GRCm39) E188G probably damaging Het
Jak1 A G 4: 101,019,123 (GRCm39) V710A probably damaging Het
Kcng4 A T 8: 120,359,693 (GRCm39) F228I probably damaging Het
Lifr A G 15: 7,196,530 (GRCm39) N238S probably benign Het
Ltbp3 C A 19: 5,797,505 (GRCm39) H414Q probably damaging Het
Mcpt8 A G 14: 56,319,794 (GRCm39) C219R probably benign Het
Mepce A T 5: 137,783,950 (GRCm39) N125K possibly damaging Het
Mfap3 T C 11: 57,420,598 (GRCm39) F193S probably damaging Het
Miox T A 15: 89,219,702 (GRCm39) Y63* probably null Het
Msl2 A T 9: 100,978,949 (GRCm39) H441L probably benign Het
Nemp2 T A 1: 52,680,069 (GRCm39) S98T possibly damaging Het
Neto2 G T 8: 86,367,187 (GRCm39) A547E probably benign Het
Nol12 T C 15: 78,825,033 (GRCm39) probably benign Het
Or4c106 A G 2: 88,683,215 (GRCm39) D307G probably null Het
Pcdhb3 T C 18: 37,433,998 (GRCm39) probably benign Het
Pear1 C A 3: 87,659,827 (GRCm39) G720W probably damaging Het
Pibf1 T G 14: 99,344,834 (GRCm39) D151E probably damaging Het
Pla2g6 T A 15: 79,193,016 (GRCm39) N217I probably damaging Het
Plcd1 G A 9: 118,904,059 (GRCm39) R292C probably damaging Het
Plcl1 C T 1: 55,735,474 (GRCm39) L272F probably damaging Het
Ppp4r4 A T 12: 103,571,228 (GRCm39) K656* probably null Het
Prr22 G A 17: 57,078,490 (GRCm39) M214I probably benign Het
Ror1 G T 4: 100,269,128 (GRCm39) R322L possibly damaging Het
Sh3tc2 G A 18: 62,108,642 (GRCm39) W244* probably null Het
Slamf6 A G 1: 171,775,615 (GRCm39) N320S probably null Het
Slc1a6 A C 10: 78,635,919 (GRCm39) D328A possibly damaging Het
Sorl1 G T 9: 41,881,038 (GRCm39) T2161K probably benign Het
Spata31e2 T A 1: 26,721,586 (GRCm39) D1198V probably benign Het
Sstr2 T C 11: 113,515,375 (GRCm39) F98S probably damaging Het
Stk33 A T 7: 108,920,672 (GRCm39) D348E probably benign Het
Sulf1 T A 1: 12,908,664 (GRCm39) L559Q probably damaging Het
Syne2 A G 12: 76,035,927 (GRCm39) D3738G probably benign Het
Taok3 A T 5: 117,366,095 (GRCm39) Q382L probably benign Het
Tet2 T A 3: 133,192,178 (GRCm39) H752L possibly damaging Het
Tia1 A C 6: 86,403,638 (GRCm39) K285T probably damaging Het
Tle3 G T 9: 61,309,206 (GRCm39) probably null Het
Top1mt T C 15: 75,537,505 (GRCm39) T414A possibly damaging Het
Ubc A T 5: 125,464,406 (GRCm39) I307N probably damaging Het
Vmn2r96 A T 17: 18,804,124 (GRCm39) D266V possibly damaging Het
Wbp2nl G T 15: 82,183,246 (GRCm39) W13C possibly damaging Het
Zfp456 T A 13: 67,510,483 (GRCm39) K102* probably null Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably 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
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
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'- GAATGACTTCTCCGAGAACGC -3'
(R):5'- CTGAATAAGGACACGATGCCTTG -3'

Sequencing Primer
(F):5'- CGAGAACGCCCTTTCTGC -3'
(R):5'- GGGGGTACACGACTTTAATCTCAG -3'
Posted On 2018-04-27