Incidental Mutation 'R0534:Npy1r'
ID 49370
Institutional Source Beutler Lab
Gene Symbol Npy1r
Ensembl Gene ENSMUSG00000036437
Gene Name neuropeptide Y receptor Y1
Synonyms Npyr, Y1-R
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 67149844-67159444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67157670 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q04573
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

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
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging 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
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
R5678:Npy1r UTSW 8 67,156,855 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2013-06-12