Incidental Mutation 'IGL01289:Npy5r'
ID72846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npy5r
Ensembl Gene ENSMUSG00000044014
Gene Nameneuropeptide Y receptor Y5
SynonymsY5R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01289
Quality Score
Status
Chromosome8
Chromosomal Location66679965-66688128 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66681866 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 92 (N92Y)
Ref Sequence ENSEMBL: ENSMUSP00000148589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070810] [ENSMUST00000211920] [ENSMUST00000212563]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070810
AA Change: N92Y

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: N92Y

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 possibly damaging
Transcript: ENSMUST00000211920
AA Change: N92Y

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212563
AA Change: N92Y

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Mcee T A 7: 64,400,318 F66I probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Olfr1241 A G 2: 89,482,847 M96T probably benign Het
Rnf224 G T 2: 25,236,247 D31E possibly damaging Het
Timd2 T C 11: 46,679,672 E192G probably benign Het
Ttll13 T A 7: 80,260,439 C777S probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Zdhhc24 G T 19: 4,878,822 W25L probably damaging Het
Other mutations in Npy5r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Npy5r APN 8 66681346 missense probably benign 0.02
oleo UTSW 8 66682041 nonsense probably null
roly-poly UTSW 8 66681540 frame shift probably null
R0395:Npy5r UTSW 8 66681973 missense probably benign 0.21
R1547:Npy5r UTSW 8 66681034 missense possibly damaging 0.52
R1616:Npy5r UTSW 8 66681400 missense probably damaging 1.00
R1906:Npy5r UTSW 8 66681473 missense probably damaging 1.00
R1965:Npy5r UTSW 8 66681277 missense probably benign
R2443:Npy5r UTSW 8 66681290 nonsense probably null
R4087:Npy5r UTSW 8 66682045 missense probably damaging 0.98
R4204:Npy5r UTSW 8 66682041 nonsense probably null
R4404:Npy5r UTSW 8 66681992 missense probably benign 0.01
R5427:Npy5r UTSW 8 66681020 missense probably damaging 0.98
R5530:Npy5r UTSW 8 66680860 missense probably benign 0.06
R5994:Npy5r UTSW 8 66682099 missense probably benign 0.06
R6041:Npy5r UTSW 8 66682023 missense possibly damaging 0.72
R6602:Npy5r UTSW 8 66681540 frame shift probably null
R6837:Npy5r UTSW 8 66681740 missense probably benign 0.00
R7879:Npy5r UTSW 8 66681316 missense possibly damaging 0.92
R7923:Npy5r UTSW 8 66681752 missense probably damaging 1.00
Posted On2013-10-07