Incidental Mutation 'R0534:Npy1r'
ID49370
Institutional Source Beutler Lab
Gene Symbol Npy1r
Ensembl Gene ENSMUSG00000036437
Gene Nameneuropeptide Y receptor Y1
SynonymsY1-R, Npyr
MMRRC Submission 038726-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #R0534 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location66697192-66706792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 66705018 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 327 (Q327K)
Ref Sequence ENSEMBL: ENSMUSP00000148417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039303] [ENSMUST00000212588]
Predicted Effect probably damaging
Transcript: ENSMUST00000039303
AA Change: Q327K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: Q327K

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 50 334 7.8e-11 PFAM
Pfam:7tm_1 56 319 1.1e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212588
AA Change: Q327K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1367 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik T C 10: 116,112,802 E273G possibly damaging Het
4933425L06Rik C A 13: 105,082,254 S32* probably null Het
Cand2 A G 6: 115,787,236 M324V probably damaging Het
Cap1 C T 4: 122,862,719 V340M probably benign Het
Ccdc110 T C 8: 45,935,138 V44A possibly damaging Het
Cps1 A G 1: 67,143,900 D139G probably benign Het
Cwc27 T A 13: 104,631,616 E457V unknown Het
Cxxc1 C T 18: 74,218,891 P280S probably benign Het
Dopey2 T A 16: 93,762,505 L595Q probably benign Het
Dscam G T 16: 96,652,172 S1292R possibly damaging Het
E2f4 C A 8: 105,304,219 F353L probably damaging Het
Ep300 A G 15: 81,600,896 probably benign Het
Fads1 C T 19: 10,183,065 P5L probably benign Het
Fign T A 2: 63,980,791 H45L probably damaging Het
Flcn T A 11: 59,794,199 probably benign Het
Gm5141 A T 13: 62,774,594 F254I probably damaging Het
Gpbp1l1 T A 4: 116,591,268 N402K probably damaging Het
Gpr37 A T 6: 25,669,824 C340* probably null Het
Gtf3c2 A T 5: 31,158,132 probably benign Het
Hcfc2 T A 10: 82,738,408 F139I probably damaging Het
Hectd4 T C 5: 121,348,476 L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 45,337,235 probably benign Het
Igf2bp1 A G 11: 95,966,796 probably benign Het
Igsf9b T G 9: 27,333,062 probably null Het
Il23r G A 6: 67,426,588 A443V probably benign Het
Kcnv1 A G 15: 45,109,249 F413L probably damaging Het
Lipe C A 7: 25,388,186 A150S possibly damaging Het
Lrrcc1 T C 3: 14,557,273 S557P probably damaging Het
Mrpl54 C A 10: 81,266,853 W13L probably damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Olfr64 C T 7: 103,893,231 R168H probably benign Het
Osbpl10 C T 9: 115,167,178 L139F probably damaging Het
P2rx6 A C 16: 17,567,904 T199P probably damaging Het
Phyhip A T 14: 70,461,759 M1L possibly damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Psmc1 T A 12: 100,120,130 I342N possibly damaging Het
Reln A T 5: 21,947,408 D2353E probably damaging Het
Rmdn3 T C 2: 119,146,370 E294G probably benign Het
Scnn1g A G 7: 121,767,424 M615V probably benign Het
Shcbp1l T A 1: 153,428,568 D124E possibly damaging Het
Sipa1l1 T C 12: 82,425,280 S1345P possibly damaging Het
Soga3 T A 10: 29,180,956 probably benign Het
St5 A T 7: 109,541,428 V197D probably damaging Het
Timp4 A G 6: 115,249,841 Y114H probably damaging Het
Tlr9 T A 9: 106,224,887 L459Q probably benign Het
Tmem104 C A 11: 115,200,828 T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 111,480,540 probably benign Het
Zfp622 A T 15: 25,984,568 I7F possibly damaging 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
IGL02651:Npy1r APN 8 66705023 missense possibly damaging 0.80
Bowery UTSW 8 66704203 missense probably damaging 1.00
PIT4576001:Npy1r UTSW 8 66704222 missense probably benign 0.03
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
R7827:Npy1r UTSW 8 66704212 missense possibly damaging 0.57
X0022:Npy1r UTSW 8 66705109 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACATGATGGACAAGATCCGGGAC -3'
(R):5'- CCATATGCTCTGAGCAGCTTCAGAC -3'

Sequencing Primer
(F):5'- GAATCAACATCATGCTGCTCTC -3'
(R):5'- GAGCAGCTTCAGACTTTTTCATTG -3'
Posted On2013-06-12