Incidental Mutation 'IGL02651:Npy1r'
ID302134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npy1r
Ensembl Gene ENSMUSG00000036437
Gene Nameneuropeptide Y receptor Y1
SynonymsY1-R, Npyr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL02651
Quality Score
Status
Chromosome8
Chromosomal Location66697192-66706792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 66705023 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 328 (R328S)
Ref Sequence ENSEMBL: ENSMUSP00000148417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039303] [ENSMUST00000212588]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039303
AA Change: R328S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: R328S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 50 334 7.8e-11 PFAM
Pfam:7tm_1 56 319 1.1e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212588
AA Change: R328S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
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 belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit moderate obesity, mild hyperinsulinemia, reduced activity and energy expenditure, lowered fast-induced refeeding, hyperalgesia, increased neuropathic pain, and resistance to barbiturates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,932,506 G233S probably benign Het
Abcc1 T A 16: 14,466,126 C1202S probably benign Het
Acaca C T 11: 84,245,204 probably benign Het
Ap3b1 T A 13: 94,477,021 F676Y probably damaging Het
Arhgef11 C A 3: 87,698,864 Q309K probably damaging Het
Asgr1 T C 11: 70,057,130 Y80H possibly damaging Het
Atp13a5 A T 16: 29,334,091 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp8b2 A C 3: 89,954,589 probably null Het
Btnl2 A G 17: 34,356,222 M1V probably null Het
Cpsf3 T A 12: 21,293,297 M121K probably damaging Het
Creb3l3 A G 10: 81,084,834 I454T probably benign Het
Cyp2d12 A G 15: 82,556,740 E153G probably damaging Het
Dnah5 A G 15: 28,350,622 I2597V probably benign Het
Ercc5 C A 1: 44,156,944 S32R probably damaging Het
Fchsd2 T A 7: 101,277,600 N656K possibly damaging Het
Fga G A 3: 83,028,534 E23K probably benign Het
Fn1 T C 1: 71,597,676 T1925A possibly damaging Het
Fstl5 A T 3: 76,593,534 E423D probably damaging Het
Glg1 C T 8: 111,160,727 M465I possibly damaging Het
H2-M10.4 C A 17: 36,460,656 R210L probably benign Het
Hbb-y T G 7: 103,852,750 K105Q probably benign Het
Hspg2 A T 4: 137,557,445 probably benign Het
Ipo11 T C 13: 106,875,606 Y556C probably damaging Het
Itpr3 A G 17: 27,106,398 M1322V probably damaging Het
Jhy A G 9: 40,917,335 L425P probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Ms4a6c A T 19: 11,478,305 E159D possibly damaging Het
Msh6 A T 17: 87,989,515 L1213F probably damaging Het
Olfr1247 A T 2: 89,609,498 N201K possibly damaging Het
Olfr988 A C 2: 85,353,050 L292R probably damaging Het
Pcdhb18 T G 18: 37,491,181 Y521* probably null Het
Pkhd1l1 A T 15: 44,483,814 Y192F probably damaging Het
Rdh12 T A 12: 79,222,052 I301N probably damaging Het
Rptor T C 11: 119,892,612 V1144A possibly damaging Het
Sap25 T C 5: 137,642,370 F171L possibly damaging Het
Senp5 A G 16: 31,990,079 L92P probably benign Het
Sfmbt1 T C 14: 30,815,537 S736P probably damaging Het
Tacr1 T C 6: 82,492,641 S169P probably damaging Het
Tbc1d21 A T 9: 58,363,101 Y130* probably null Het
Tle2 G A 10: 81,586,889 G428D probably damaging Het
Tmem117 T A 15: 95,094,561 N367K probably damaging Het
Tmem210 A G 2: 25,289,089 T130A possibly damaging Het
Ttn T G 2: 76,850,024 probably benign Het
Ttyh1 T C 7: 4,124,679 L122P probably damaging Het
Vmn2r60 T C 7: 42,195,586 F791S probably damaging Het
Vps13d A T 4: 145,164,559 N575K probably benign Het
Vps8 T C 16: 21,517,336 V746A probably damaging Het
Wdfy3 A T 5: 101,896,475 M1888K probably benign Het
Zfp595 T C 13: 67,320,953 D3G probably benign Het
Other mutations in Npy1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Npy1r APN 8 66704776 missense probably benign
IGL01629:Npy1r APN 8 66704221 missense probably benign 0.01
IGL02338:Npy1r APN 8 66704302 missense probably damaging 1.00
Bowery UTSW 8 66704203 missense probably damaging 1.00
PIT4576001:Npy1r UTSW 8 66704222 missense probably benign 0.03
R0534:Npy1r UTSW 8 66705018 missense probably damaging 1.00
R1518:Npy1r UTSW 8 66704195 missense probably benign 0.05
R1575:Npy1r UTSW 8 66704161 missense probably damaging 1.00
R1768:Npy1r UTSW 8 66704525 missense possibly damaging 0.49
R2144:Npy1r UTSW 8 66705184 missense probably benign 0.18
R2280:Npy1r UTSW 8 66704059 missense possibly damaging 0.94
R3775:Npy1r UTSW 8 66704850 missense possibly damaging 0.90
R5678:Npy1r UTSW 8 66704203 missense probably damaging 1.00
R6721:Npy1r UTSW 8 66704289 nonsense probably null
R7050:Npy1r UTSW 8 66704540 missense probably benign
R7250:Npy1r UTSW 8 66705060 missense probably benign 0.00
R7531:Npy1r UTSW 8 66704894 missense probably damaging 0.98
X0022:Npy1r UTSW 8 66705109 missense probably damaging 1.00
Posted On2015-04-16