Incidental Mutation 'R9436:Npy5r'
ID 713285
Institutional Source Beutler Lab
Gene Symbol Npy5r
Ensembl Gene ENSMUSG00000044014
Gene Name neuropeptide Y receptor Y5
Synonyms Y5R
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R9436 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 67132617-67140746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67133483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 437 (S437P)
Ref Sequence ENSEMBL: ENSMUSP00000065157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070810] [ENSMUST00000211920] [ENSMUST00000212563]
AlphaFold O70342
Predicted Effect probably damaging
Transcript: ENSMUST00000070810
AA Change: S437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: S437P

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: S437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212563
AA Change: S437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,909,975 (GRCm39) T340A probably benign Het
Adamts2 G T 11: 50,694,507 (GRCm39) R1098L probably benign Het
Add1 A T 5: 34,763,273 (GRCm39) R154* probably null Het
Alpk1 A G 3: 127,478,924 (GRCm39) V41A Het
Anapc1 T C 2: 128,518,045 (GRCm39) T270A probably benign Het
Ankhd1 C A 18: 36,694,041 (GRCm39) A84D probably benign Het
Ankhd1 T A 18: 36,774,654 (GRCm39) C1412S probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Chrm5 T C 2: 112,309,824 (GRCm39) R431G possibly damaging Het
Clxn T A 16: 14,735,541 (GRCm39) C84* probably null Het
Dnah14 A C 1: 181,508,348 (GRCm39) E1842A probably damaging Het
Dync1h1 T C 12: 110,582,975 (GRCm39) L386P probably damaging Het
Eme1 G A 11: 94,538,507 (GRCm39) Q393* probably null Het
Hinfp A T 9: 44,209,276 (GRCm39) Y308N probably damaging Het
Hnrnph3 T A 10: 62,854,627 (GRCm39) R55* probably null Het
Ifi44 T C 3: 151,454,886 (GRCm39) D113G probably benign Het
Katnal1 A T 5: 148,815,761 (GRCm39) L392H probably damaging Het
Kcnk12 C A 17: 88,104,880 (GRCm39) M1I probably null Het
Krt17 T A 11: 100,148,325 (GRCm39) D372V probably damaging Het
Mrtfb T A 16: 13,223,151 (GRCm39) Y796* probably null Het
Myo3a T A 2: 22,412,235 (GRCm39) Y751* probably null Het
Ndrg3 C A 2: 156,782,276 (GRCm39) probably null Het
Nfkbib C A 7: 28,465,800 (GRCm39) W16C probably damaging Het
Nlrp14 T C 7: 106,781,106 (GRCm39) V101A probably benign Het
Or6c75 T C 10: 129,336,969 (GRCm39) F64S probably damaging Het
Pcdhga3 G A 18: 37,808,144 (GRCm39) R199H probably damaging Het
Pi4ka T A 16: 17,125,670 (GRCm39) H1155L Het
Rbp3 A G 14: 33,677,234 (GRCm39) D394G possibly damaging Het
Rnmt T A 18: 68,442,410 (GRCm39) V180E probably damaging Het
Rpl3l A T 17: 24,947,300 (GRCm39) K5* probably null Het
Rps6ka1 A T 4: 133,575,963 (GRCm39) V652E probably damaging Het
Slc7a1 A T 5: 148,270,730 (GRCm39) W579R probably damaging Het
Smr2l A G 5: 88,430,257 (GRCm39) D51G possibly damaging Het
Smyd4 T A 11: 75,293,017 (GRCm39) L649Q probably damaging Het
Snx19 A G 9: 30,374,602 (GRCm39) R954G possibly damaging Het
Sp4 T C 12: 118,202,000 (GRCm39) E744G possibly damaging Het
Spag16 C T 1: 69,892,539 (GRCm39) L107F probably damaging Het
Stk36 A G 1: 74,650,272 (GRCm39) D268G probably benign Het
Tat G T 8: 110,718,492 (GRCm39) G85W probably damaging Het
Tchp G T 5: 114,847,446 (GRCm39) E88D probably benign Het
Tmem132b A G 5: 125,775,633 (GRCm39) N369S possibly damaging Het
Tmf1 T C 6: 97,153,617 (GRCm39) D152G probably benign Het
Ttc7 T C 17: 87,600,320 (GRCm39) Y145H possibly damaging Het
Ttn T C 2: 76,772,263 (GRCm39) I2592M unknown Het
Unc80 T G 1: 66,732,964 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,002,826 (GRCm39) Y79H probably damaging Het
Whamm G T 7: 81,221,063 (GRCm39) probably benign Het
Zfp184 A G 13: 22,133,898 (GRCm39) I48M probably benign Het
Zfp974 A T 7: 27,611,094 (GRCm39) F210L 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
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
R9501:Npy5r UTSW 8 67,134,137 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGCATTCAGATCCAGAACAC -3'
(R):5'- AGATGAGAGTCAAGCGTTCC -3'

Sequencing Primer
(F):5'- GCATTCAGATCCAGAACACGTTTATG -3'
(R):5'- TGAGAGTCAAGCGTTCCCTCAC -3'
Posted On 2022-05-16