Incidental Mutation 'IGL02308:Npffr2'
ID287704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npffr2
Ensembl Gene ENSMUSG00000035528
Gene Nameneuropeptide FF receptor 2
SynonymsNPFF2, Gpr74
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02308
Quality Score
Status
Chromosome5
Chromosomal Location89527429-89583740 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 89583451 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 413 (N413K)
Ref Sequence ENSEMBL: ENSMUSP00000040033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048557]
Predicted Effect probably benign
Transcript: ENSMUST00000048557
AA Change: N413K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: N413K

DomainStartEndE-ValueType
Pfam:7tm_4 52 349 3.8e-8 PFAM
Pfam:7TM_GPCR_Srsx 56 347 3.7e-11 PFAM
Pfam:7tm_1 62 332 4.2e-57 PFAM
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 a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,202,482 S8F probably damaging Het
Alpk1 T A 3: 127,729,282 Q37L probably damaging Het
Cfap43 T C 19: 47,748,024 T1343A probably benign Het
Cmbl C A 15: 31,585,408 P146Q possibly damaging Het
Cog2 A T 8: 124,533,212 probably null Het
Dgkh C A 14: 78,587,576 V880L probably benign Het
Dopey1 T C 9: 86,520,088 S1114P probably damaging Het
Eif5b T A 1: 38,041,747 V723D probably damaging Het
Gdf11 A G 10: 128,885,384 Y314H probably damaging Het
Gm10110 T C 14: 89,897,595 noncoding transcript Het
Gm960 T C 19: 4,663,555 K132E probably damaging Het
Gria1 G A 11: 57,236,924 V320I probably benign Het
H2-Q10 T A 17: 35,473,566 *326R probably null Het
Irx6 T A 8: 92,677,031 L128Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lama5 A G 2: 180,190,327 probably benign Het
Mios A G 6: 8,231,269 I718V probably benign Het
Mroh8 A G 2: 157,254,973 V318A probably damaging Het
Nags A G 11: 102,149,071 *528W probably null Het
Nom1 T A 5: 29,437,710 V403D probably damaging Het
Olfr394 A T 11: 73,888,295 Y26N probably benign Het
Olfr671 T A 7: 104,975,458 I176F possibly damaging Het
Olr1 C T 6: 129,499,897 R135K possibly damaging Het
Pkhd1 A G 1: 20,070,376 probably null Het
Ptpro A G 6: 137,454,700 M1158V probably benign Het
Sh3d19 A G 3: 86,093,710 K238E probably damaging Het
Smarcc2 G T 10: 128,482,772 R641L probably damaging Het
Th T C 7: 142,898,057 E75G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttn G A 2: 76,894,361 R2107* probably null Het
Ubr2 A T 17: 46,934,193 C1636S probably damaging Het
Vmn2r100 T A 17: 19,521,335 I103K possibly damaging Het
Vmn2r88 A G 14: 51,417,980 M558V possibly damaging Het
Zzef1 G A 11: 72,886,747 M1801I probably benign Het
Other mutations in Npffr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Npffr2 APN 5 89582972 missense probably benign
IGL02455:Npffr2 APN 5 89568135 missense probably damaging 1.00
IGL03288:Npffr2 APN 5 89583161 missense probably damaging 1.00
R0309:Npffr2 UTSW 5 89583347 missense probably benign 0.00
R0389:Npffr2 UTSW 5 89582754 missense probably benign 0.15
R1552:Npffr2 UTSW 5 89583116 missense possibly damaging 0.45
R1736:Npffr2 UTSW 5 89568066 missense probably damaging 1.00
R2015:Npffr2 UTSW 5 89582892 missense probably damaging 0.99
R2127:Npffr2 UTSW 5 89568065 missense probably damaging 1.00
R2129:Npffr2 UTSW 5 89568065 missense probably damaging 1.00
R2429:Npffr2 UTSW 5 89583147 missense probably damaging 1.00
R4272:Npffr2 UTSW 5 89568023 missense probably damaging 1.00
R4740:Npffr2 UTSW 5 89583020 nonsense probably null
R5023:Npffr2 UTSW 5 89582687 missense probably benign 0.07
R6386:Npffr2 UTSW 5 89582697 missense probably benign 0.02
R6546:Npffr2 UTSW 5 89583012 missense probably damaging 1.00
R7735:Npffr2 UTSW 5 89583314 missense probably benign
R7953:Npffr2 UTSW 5 89582654 missense probably benign 0.24
R7998:Npffr2 UTSW 5 89583290 missense probably damaging 0.99
R8043:Npffr2 UTSW 5 89582654 missense probably benign 0.24
R8509:Npffr2 UTSW 5 89583329 missense possibly damaging 0.78
R8799:Npffr2 UTSW 5 89583318 missense probably benign 0.00
X0039:Npffr2 UTSW 5 89583287 missense probably benign 0.16
X0063:Npffr2 UTSW 5 89567985 missense probably benign 0.42
Posted On2015-04-16