Incidental Mutation 'R5530:Npy5r'
ID 433639
Institutional Source Beutler Lab
Gene Symbol Npy5r
Ensembl Gene ENSMUSG00000044014
Gene Name neuropeptide Y receptor Y5
Synonyms Y5R
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 67132617-67140746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67133512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 427 (Y427F)
Ref Sequence ENSEMBL: ENSMUSP00000148589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070810] [ENSMUST00000211920] [ENSMUST00000212563]
AlphaFold O70342
Predicted Effect probably benign
Transcript: ENSMUST00000070810
AA Change: Y427F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: Y427F

DomainStartEndE-ValueType
internal_repeat_1 15 36 1.53e-7 PROSPERO
internal_repeat_1 36 57 1.53e-7 PROSPERO
Pfam:7TM_GPCR_Srsx 73 253 1.9e-10 PFAM
Pfam:7tm_1 79 445 2.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211920
AA Change: Y427F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000212563
AA Change: Y427F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show increased susceptibility to diet-induced obesity and a reduced orexigenic response to select agonists. Homozygotes for a reporter allele show mild late-onset obesity, increased adiposity, polyphagia, and exacerbated obesity parameters after chronic NPY infusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Aplp1 T C 7: 30,136,254 (GRCm39) S508G possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fbxo46 T C 7: 18,870,727 (GRCm39) Y449H probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Kcnj2 T C 11: 110,962,917 (GRCm39) F103S probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Or8b12c A G 9: 37,716,103 (GRCm39) T299A probably benign Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rad21l A T 2: 151,499,430 (GRCm39) I257K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sec61a2 A T 2: 5,887,461 (GRCm39) Y131* probably null Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Npy5r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Npy5r APN 8 67,134,518 (GRCm39) missense possibly damaging 0.47
IGL02192:Npy5r APN 8 67,133,998 (GRCm39) missense probably benign 0.02
oleo UTSW 8 67,134,693 (GRCm39) nonsense probably null
roly-poly UTSW 8 67,134,192 (GRCm39) frame shift probably null
R0395:Npy5r UTSW 8 67,134,625 (GRCm39) missense probably benign 0.21
R1547:Npy5r UTSW 8 67,133,686 (GRCm39) missense possibly damaging 0.52
R1616:Npy5r UTSW 8 67,134,052 (GRCm39) missense probably damaging 1.00
R1906:Npy5r UTSW 8 67,134,125 (GRCm39) missense probably damaging 1.00
R1965:Npy5r UTSW 8 67,133,929 (GRCm39) missense probably benign
R2443:Npy5r UTSW 8 67,133,942 (GRCm39) nonsense probably null
R4087:Npy5r UTSW 8 67,134,697 (GRCm39) missense probably damaging 0.98
R4204:Npy5r UTSW 8 67,134,693 (GRCm39) nonsense probably null
R4404:Npy5r UTSW 8 67,134,644 (GRCm39) missense probably benign 0.01
R5427:Npy5r UTSW 8 67,133,672 (GRCm39) missense probably damaging 0.98
R5994:Npy5r UTSW 8 67,134,751 (GRCm39) missense probably benign 0.06
R6041:Npy5r UTSW 8 67,134,675 (GRCm39) missense possibly damaging 0.72
R6602:Npy5r UTSW 8 67,134,192 (GRCm39) frame shift probably null
R6837:Npy5r UTSW 8 67,134,392 (GRCm39) missense probably benign 0.00
R7879:Npy5r UTSW 8 67,133,968 (GRCm39) missense possibly damaging 0.92
R7923:Npy5r UTSW 8 67,134,404 (GRCm39) missense probably damaging 1.00
R8534:Npy5r UTSW 8 67,134,688 (GRCm39) missense probably benign 0.00
R8699:Npy5r UTSW 8 67,134,274 (GRCm39) missense probably damaging 1.00
R9094:Npy5r UTSW 8 67,133,560 (GRCm39) missense probably damaging 1.00
R9338:Npy5r UTSW 8 67,134,658 (GRCm39) missense probably benign 0.00
R9436:Npy5r UTSW 8 67,133,483 (GRCm39) missense probably damaging 1.00
R9501:Npy5r UTSW 8 67,134,137 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCATTCAGATCCAGAACAC -3'
(R):5'- AGATGAGAGTCAAGCGTTCCC -3'

Sequencing Primer
(F):5'- CAATTAGCACAGATGTATTGTGGGC -3'
(R):5'- AGAGTCAAGCGTTCCCTCACG -3'
Posted On 2016-10-06