Incidental Mutation 'IGL01420:Npr3'
ID 80367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npr3
Ensembl Gene ENSMUSG00000022206
Gene Name natriuretic peptide receptor 3
Synonyms longjohn, NPR-C, B430320C24Rik, Nppc receptor, lgj
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.497) question?
Stock # IGL01420
Quality Score
Status
Chromosome 15
Chromosomal Location 11839896-11907287 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11858632 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 135 (N135D)
Ref Sequence ENSEMBL: ENSMUSP00000153895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066529] [ENSMUST00000228489] [ENSMUST00000228603]
AlphaFold P70180
Predicted Effect probably damaging
Transcript: ENSMUST00000066529
AA Change: N389D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: N389D

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: N135D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228603
AA Change: N389D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T A 7: 28,140,133 M457K probably benign Het
Acap2 A G 16: 31,101,819 probably benign Het
Actr6 A T 10: 89,725,165 probably benign Het
Adamts3 A T 5: 89,703,057 M541K possibly damaging Het
Adgre4 T C 17: 55,799,785 probably benign Het
Anxa6 T C 11: 54,992,363 Y481C probably damaging Het
Apbb1ip A T 2: 22,858,280 I371F possibly damaging Het
Arhgef10l T C 4: 140,570,338 D261G probably damaging Het
Bche T C 3: 73,702,009 H28R probably benign Het
C2cd3 T C 7: 100,454,858 V2026A probably benign Het
Cacna1d C T 14: 30,051,638 V1697I probably benign Het
Celsr2 T C 3: 108,393,763 H2738R probably benign Het
Celsr3 A G 9: 108,841,190 probably null Het
Cep152 A T 2: 125,563,652 D1653E possibly damaging Het
Cfap57 T A 4: 118,612,940 I248F probably benign Het
Clcnka C A 4: 141,389,332 R536L probably benign Het
Dao T A 5: 114,023,820 probably benign Het
Dnajc10 T C 2: 80,345,023 S585P possibly damaging Het
Dysf C T 6: 84,149,759 Q1333* probably null Het
Eps8l2 T A 7: 141,357,663 S397T probably benign Het
Fap A G 2: 62,504,502 probably benign Het
Fbf1 T C 11: 116,145,996 T971A probably benign Het
Fbxl17 C T 17: 63,385,052 V22M probably damaging Het
Fundc2 T C X: 75,390,865 probably benign Het
Heyl C A 4: 123,240,174 Q42K probably damaging Het
Hyal4 A G 6: 24,755,872 K30E probably benign Het
Igsf10 T C 3: 59,319,650 I2201V probably benign Het
Il34 T C 8: 110,742,713 K157E probably damaging Het
Kcnj13 T C 1: 87,389,044 T116A probably damaging Het
Lpl T C 8: 68,887,433 probably benign Het
Mcm6 A G 1: 128,345,875 L406P probably damaging Het
Mst1 G A 9: 108,082,828 R328H probably damaging Het
Nadk2 T C 15: 9,102,984 S308P probably damaging Het
Nae1 G T 8: 104,523,165 Q225K probably benign Het
Ncoa6 G A 2: 155,407,587 P1266S probably damaging Het
Neb A G 2: 52,157,377 Y6485H probably damaging Het
Nin G A 12: 70,045,414 A707V probably benign Het
Nmur1 T C 1: 86,387,391 T218A probably benign Het
Nup107 A T 10: 117,785,021 L142Q probably damaging Het
Pdgfc T A 3: 81,141,443 S53T probably benign Het
Plxdc2 T A 2: 16,650,139 V232D probably damaging Het
Pou2f2 T C 7: 25,092,952 N493D possibly damaging Het
Rtel1 T C 2: 181,354,401 I750T probably benign Het
Sbk1 A G 7: 126,292,012 probably null Het
Sec24d A G 3: 123,350,009 N603S probably benign Het
Slc38a10 T A 11: 120,106,460 E736V probably damaging Het
Smc6 A G 12: 11,291,658 Y559C probably benign Het
Sprr4 A T 3: 92,500,384 V37E unknown Het
Sptbn2 A G 19: 4,734,125 T632A probably benign Het
Trim31 A G 17: 36,898,411 M20V probably benign Het
Trim65 C A 11: 116,126,509 V376L probably damaging Het
Ttn T C 2: 76,712,076 D25195G probably damaging Het
Tysnd1 A G 10: 61,702,051 T503A possibly damaging Het
Vtn A T 11: 78,499,374 I9L probably benign Het
Zfp398 A G 6: 47,865,934 M175V probably benign Het
Other mutations in Npr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Npr3 APN 15 11895694 missense probably damaging 1.00
IGL01599:Npr3 APN 15 11895789 missense probably damaging 1.00
IGL01977:Npr3 APN 15 11858718 missense probably damaging 1.00
eel UTSW 15 11858647 missense probably damaging 0.99
Electric UTSW 15 11848603 missense possibly damaging 0.73
Morray UTSW 15 11851450 missense probably damaging 0.99
R0581:Npr3 UTSW 15 11851450 missense probably damaging 0.99
R0607:Npr3 UTSW 15 11845282 missense probably benign 0.32
R1554:Npr3 UTSW 15 11848563 missense probably benign
R1779:Npr3 UTSW 15 11851486 missense probably damaging 1.00
R1793:Npr3 UTSW 15 11848579 missense probably benign 0.05
R1968:Npr3 UTSW 15 11904969 missense probably benign 0.31
R2379:Npr3 UTSW 15 11883363 missense probably damaging 0.99
R2883:Npr3 UTSW 15 11883324 missense possibly damaging 0.50
R3080:Npr3 UTSW 15 11905149 missense probably benign 0.01
R3745:Npr3 UTSW 15 11905491 missense probably damaging 1.00
R3803:Npr3 UTSW 15 11895790 missense probably damaging 1.00
R4166:Npr3 UTSW 15 11848513 missense probably benign 0.32
R4411:Npr3 UTSW 15 11905149 missense probably benign 0.01
R4412:Npr3 UTSW 15 11905149 missense probably benign 0.01
R4667:Npr3 UTSW 15 11905467 missense possibly damaging 0.58
R5209:Npr3 UTSW 15 11848603 missense possibly damaging 0.73
R5742:Npr3 UTSW 15 11883408 missense probably damaging 1.00
R6339:Npr3 UTSW 15 11845275 missense probably damaging 0.99
R6605:Npr3 UTSW 15 11905432 missense probably damaging 1.00
R6890:Npr3 UTSW 15 11883392 missense possibly damaging 0.89
R7009:Npr3 UTSW 15 11905248 missense probably damaging 1.00
R7371:Npr3 UTSW 15 11845290 critical splice acceptor site probably null
R7582:Npr3 UTSW 15 11895682 missense probably null 1.00
R7743:Npr3 UTSW 15 11905638 start codon destroyed probably null 0.90
R7896:Npr3 UTSW 15 11883362 missense probably damaging 1.00
R8672:Npr3 UTSW 15 11851493 missense probably damaging 1.00
R8840:Npr3 UTSW 15 11905243 missense probably damaging 0.98
S24628:Npr3 UTSW 15 11848563 missense probably benign
Posted On 2013-11-05