Incidental Mutation 'IGL01599:Npr3'
ID 92051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npr3
Ensembl Gene ENSMUSG00000022206
Gene Name natriuretic peptide receptor 3
Synonyms lgj, Nppc receptor, B430320C24Rik, NPR-C, longjohn
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # IGL01599
Quality Score
Status
Chromosome 15
Chromosomal Location 11839982-11907287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11895875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 257 (A257V)
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: A257V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: A257V

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: A3V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228603
AA Change: A257V

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Aldh16a1 A G 7: 44,791,517 (GRCm39) F753L probably damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Cpsf1 A G 15: 76,480,741 (GRCm39) L1295P probably damaging Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Exoc5 T A 14: 49,272,421 (GRCm39) Q331L probably benign Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Pde9a G T 17: 31,633,124 (GRCm39) C38F probably damaging Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Syndig1 T A 2: 149,845,203 (GRCm39) V242E probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Xrcc5 T C 1: 72,385,508 (GRCm39) V533A possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P 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
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
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
Posted On 2013-12-09