Incidental Mutation 'R5427:Npy5r'
ID 426960
Institutional Source Beutler Lab
Gene Symbol Npy5r
Ensembl Gene ENSMUSG00000044014
Gene Name neuropeptide Y receptor Y5
Synonyms Y5R
MMRRC Submission 042993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5427 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 67132617-67140746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67133672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 374 (R374C)
Ref Sequence ENSEMBL: ENSMUSP00000148589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070810] [ENSMUST00000211920] [ENSMUST00000212563]
AlphaFold O70342
Predicted Effect probably damaging
Transcript: ENSMUST00000070810
AA Change: R374C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: R374C

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 damaging
Transcript: ENSMUST00000211920
AA Change: R374C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212563
AA Change: R374C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.1487 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (58/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,248,385 (GRCm39) V277A possibly damaging Het
Adcy7 G A 8: 89,052,829 (GRCm39) probably null Het
Adgrg5 A T 8: 95,661,730 (GRCm39) D157V probably benign Het
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Alpi T C 1: 87,029,076 (GRCm39) N33D probably benign Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Anp32a A G 9: 62,284,598 (GRCm39) probably benign Het
Atg4b G C 1: 93,702,928 (GRCm39) K86N probably damaging Het
Bbx T C 16: 50,100,860 (GRCm39) T12A probably benign Het
Catsperg2 T C 7: 29,414,275 (GRCm39) T377A possibly damaging Het
Ccdc158 T C 5: 92,796,821 (GRCm39) Q505R probably damaging Het
Cep135 T A 5: 76,786,049 (GRCm39) S1051T probably benign Het
Cryab A G 9: 50,667,593 (GRCm39) D109G probably damaging Het
Crym A C 7: 119,798,445 (GRCm39) probably benign Het
Csf2rb2 T A 15: 78,173,111 (GRCm39) S250C probably damaging Het
Diaph1 A T 18: 38,023,648 (GRCm39) V730E unknown Het
Eci3 G T 13: 35,143,931 (GRCm39) L65M possibly damaging Het
Erg28 T C 12: 85,866,341 (GRCm39) N46D probably damaging Het
Fam89b A G 19: 5,778,819 (GRCm39) S127P probably benign Het
Fign A G 2: 63,809,342 (GRCm39) Y643H probably damaging Het
Galk2 T C 2: 125,788,741 (GRCm39) V265A probably benign Het
Gclm T C 3: 122,059,976 (GRCm39) V252A probably damaging Het
Git2 A G 5: 114,868,389 (GRCm39) S584P possibly damaging Het
Iqcf3 T C 9: 106,421,059 (GRCm39) probably null Het
Kcnk3 A G 5: 30,779,639 (GRCm39) T230A possibly damaging Het
Mettl25b T C 3: 87,831,639 (GRCm39) probably benign Het
Myh10 T C 11: 68,693,757 (GRCm39) L1486P probably damaging Het
Myom2 C A 8: 15,163,764 (GRCm39) A1006E probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nampt A T 12: 32,884,914 (GRCm39) H111L probably benign Het
Nid1 A G 13: 13,658,268 (GRCm39) Y671C probably damaging Het
Or10ag54 A T 2: 87,099,858 (GRCm39) K244N probably benign Het
Or5b123 A T 19: 13,596,714 (GRCm39) S20C probably benign Het
Palld C T 8: 62,003,106 (GRCm39) C720Y probably benign Het
Pcsk6 C T 7: 65,683,647 (GRCm39) T606M probably benign Het
Pfas T C 11: 68,891,979 (GRCm39) I176M possibly damaging Het
Pi4kb A G 3: 94,901,518 (GRCm39) D395G probably benign Het
Plod3 A T 5: 137,020,642 (GRCm39) Y547F probably damaging Het
Plscr1l1 G A 9: 92,234,649 (GRCm39) C128Y probably benign Het
Pnpo T C 11: 96,834,633 (GRCm39) Y21C probably benign Het
Rgs1 A T 1: 144,122,018 (GRCm39) C118* probably null Het
Slc22a27 A G 19: 7,856,753 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sppl2c G A 11: 104,078,693 (GRCm39) V498I probably benign Het
Stim2 A T 5: 54,268,281 (GRCm39) I448F possibly damaging Het
Sulf1 A T 1: 12,867,136 (GRCm39) T107S possibly damaging Het
Tenm3 A G 8: 48,689,599 (GRCm39) V1996A probably damaging Het
Timm23 G A 14: 31,911,103 (GRCm39) T171I possibly damaging Het
Tssk2 A G 16: 17,716,729 (GRCm39) D44G probably damaging Het
Vmn2r28 A T 7: 5,489,376 (GRCm39) Y488N probably damaging Het
Zbed6 A G 1: 133,585,333 (GRCm39) V668A possibly damaging Het
Zbtb48 A G 4: 152,105,108 (GRCm39) F518S probably damaging Het
Zfp709 A G 8: 72,642,976 (GRCm39) E135G probably benign Het
Zfp788 G A 7: 41,299,076 (GRCm39) V571I possibly damaging Het
Zfp963 A G 8: 70,196,106 (GRCm39) S116P 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
R5530:Npy5r UTSW 8 67,133,512 (GRCm39) missense probably benign 0.06
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'- TGACAGATGCAGTACACCAGC -3'
(R):5'- GGAGCTACTCATTCATCAGAAAGC -3'

Sequencing Primer
(F):5'- CACCAGCTTGAAATGCCTATTGG -3'
(R):5'- AAGACGGCATGCGTGTTACC -3'
Posted On 2016-09-01