Incidental Mutation 'R5678:Npy1r'
ID 442887
Institutional Source Beutler Lab
Gene Symbol Npy1r
Ensembl Gene ENSMUSG00000036437
Gene Name neuropeptide Y receptor Y1
Synonyms Npyr, Y1-R
MMRRC Submission 043317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5678 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 67149844-67159444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67156855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 92 (C92R)
Ref Sequence ENSEMBL: ENSMUSP00000148417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039303] [ENSMUST00000212588]
AlphaFold Q04573
Predicted Effect probably damaging
Transcript: ENSMUST00000039303
AA Change: C92R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: C92R

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: C92R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9652 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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
1700093K21Rik T C 11: 23,466,529 (GRCm39) T168A probably damaging Het
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
A530016L24Rik T G 12: 112,463,306 (GRCm39) C43W probably damaging Het
Aatk T C 11: 119,900,980 (GRCm39) T1082A probably benign Het
Acsl1 T A 8: 46,945,887 (GRCm39) F7I probably benign Het
Adgb T G 10: 10,307,070 (GRCm39) S299R possibly damaging Het
Apob T C 12: 8,041,494 (GRCm39) F738L possibly damaging Het
Art3 T C 5: 92,540,409 (GRCm39) Y51H probably damaging Het
Atr C T 9: 95,833,540 (GRCm39) Q2597* probably null Het
Atrn T C 2: 130,811,936 (GRCm39) V627A probably damaging Het
Baz1a T C 12: 54,947,317 (GRCm39) K1111E probably damaging Het
Ccdc40 T C 11: 119,122,398 (GRCm39) S67P possibly damaging Het
Cd164 T C 10: 41,395,948 (GRCm39) probably null Het
Cep295 T C 9: 15,234,154 (GRCm39) D2214G probably damaging Het
Clcn1 A G 6: 42,284,199 (GRCm39) Y589C probably damaging Het
Col1a2 C T 6: 4,536,239 (GRCm39) A998V unknown Het
Csrnp2 T C 15: 100,379,685 (GRCm39) *535W probably null Het
Dhrs7 C T 12: 72,704,106 (GRCm39) G130D probably damaging Het
Dnah3 T C 7: 119,677,074 (GRCm39) T477A probably benign Het
Dscam A G 16: 96,592,100 (GRCm39) F725S probably benign Het
Dstyk T C 1: 132,381,029 (GRCm39) V508A probably benign Het
Eif4g3 A G 4: 137,879,053 (GRCm39) E595G probably damaging Het
Epha6 A T 16: 59,639,342 (GRCm39) V844E probably damaging Het
Esrp2 G A 8: 106,858,750 (GRCm39) A629V probably damaging Het
Fndc3b A G 3: 27,483,172 (GRCm39) S1009P probably benign Het
Gm8257 A T 14: 44,894,706 (GRCm39) I28N probably damaging Het
Ighv5-9-1 T C 12: 113,700,207 (GRCm39) E4G possibly damaging Het
Ints3 A G 3: 90,310,855 (GRCm39) V455A probably damaging Het
Lamtor2 A G 3: 88,458,101 (GRCm39) probably benign Het
Nup210l T C 3: 90,098,266 (GRCm39) V1406A probably damaging Het
Or10g7 T C 9: 39,905,199 (GRCm39) V31A probably benign Het
Or4a75 A G 2: 89,447,625 (GRCm39) F304L probably benign Het
Or4c108 A T 2: 88,803,317 (GRCm39) L306* probably null Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Qdpr T C 5: 45,604,979 (GRCm39) E43G possibly damaging Het
Rps6ka5 T C 12: 100,691,135 (GRCm39) E2G unknown Het
Setd2 A G 9: 110,431,254 (GRCm39) T5A probably damaging Het
Slc66a2 T C 18: 80,300,249 (GRCm39) I40T probably damaging Het
Srpk2 TCA T 5: 23,729,604 (GRCm39) probably null Het
Sympk T C 7: 18,783,397 (GRCm39) probably null Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tchh A T 3: 93,352,933 (GRCm39) Q791L unknown Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tnrc18 T C 5: 142,719,319 (GRCm39) D1989G unknown Het
Utp20 A T 10: 88,644,979 (GRCm39) H582Q probably benign Het
Utrn A G 10: 12,317,762 (GRCm39) I554T probably damaging Het
Zfp1005 A T 2: 150,110,425 (GRCm39) R372* probably null Het
Zfp119a T C 17: 56,175,336 (GRCm39) E53G probably benign Het
Other mutations in Npy1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Npy1r APN 8 67,157,428 (GRCm39) missense probably benign
IGL01629:Npy1r APN 8 67,156,873 (GRCm39) missense probably benign 0.01
IGL02338:Npy1r APN 8 67,156,954 (GRCm39) missense probably damaging 1.00
IGL02651:Npy1r APN 8 67,157,675 (GRCm39) missense possibly damaging 0.80
Bowery UTSW 8 67,156,855 (GRCm39) missense probably damaging 1.00
marmot UTSW 8 67,156,941 (GRCm39) nonsense probably null
PIT4576001:Npy1r UTSW 8 67,156,874 (GRCm39) missense probably benign 0.03
R0534:Npy1r UTSW 8 67,157,670 (GRCm39) missense probably damaging 1.00
R1518:Npy1r UTSW 8 67,156,847 (GRCm39) missense probably benign 0.05
R1575:Npy1r UTSW 8 67,156,813 (GRCm39) missense probably damaging 1.00
R1768:Npy1r UTSW 8 67,157,177 (GRCm39) missense possibly damaging 0.49
R2144:Npy1r UTSW 8 67,157,836 (GRCm39) missense probably benign 0.18
R2280:Npy1r UTSW 8 67,156,711 (GRCm39) missense possibly damaging 0.94
R3775:Npy1r UTSW 8 67,157,502 (GRCm39) missense possibly damaging 0.90
R6721:Npy1r UTSW 8 67,156,941 (GRCm39) nonsense probably null
R7050:Npy1r UTSW 8 67,157,192 (GRCm39) missense probably benign
R7250:Npy1r UTSW 8 67,157,712 (GRCm39) missense probably benign 0.00
R7531:Npy1r UTSW 8 67,157,546 (GRCm39) missense probably damaging 0.98
R7827:Npy1r UTSW 8 67,156,864 (GRCm39) missense possibly damaging 0.57
R8123:Npy1r UTSW 8 67,157,619 (GRCm39) missense probably damaging 0.99
R9058:Npy1r UTSW 8 67,156,600 (GRCm39) missense probably benign
R9343:Npy1r UTSW 8 67,156,751 (GRCm39) missense probably damaging 1.00
R9378:Npy1r UTSW 8 67,156,861 (GRCm39) missense probably damaging 1.00
R9775:Npy1r UTSW 8 67,157,742 (GRCm39) missense possibly damaging 0.47
X0022:Npy1r UTSW 8 67,157,761 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGATGACTGCCACCTGC -3'
(R):5'- ACCCAAATGACAGTAATGCCTATG -3'

Sequencing Primer
(F):5'- GCCCTTGGCTGTGATATTCAC -3'
(R):5'- GACAGTAATGCCTATGTAAGCATGTC -3'
Posted On 2016-11-09