Incidental Mutation 'R4404:Npy5r'
ID 326761
Institutional Source Beutler Lab
Gene Symbol Npy5r
Ensembl Gene ENSMUSG00000044014
Gene Name neuropeptide Y receptor Y5
Synonyms Y5R
MMRRC Submission 041133-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R4404 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 67132617-67140746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67134644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 50 (V50I)
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: V50I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: V50I

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: V50I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000212563
AA Change: V50I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc188 A G 16: 18,036,284 (GRCm39) Q153R probably damaging Het
Cimap3 G A 3: 105,908,684 (GRCm39) P7L probably benign Het
Dop1a T A 9: 86,404,866 (GRCm39) L1721* probably null Het
Fcsk T A 8: 111,616,933 (GRCm39) T406S probably benign Het
Fer A T 17: 64,248,284 (GRCm39) probably null Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Gria4 A T 9: 4,464,489 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,716,761 (GRCm39) D813G probably damaging Het
Hars2 G T 18: 36,918,989 (GRCm39) C83F probably damaging Het
Htr6 A G 4: 138,789,513 (GRCm39) S251P probably benign Het
Igsf10 T C 3: 59,236,972 (GRCm39) T1070A probably benign Het
Il22ra1 A T 4: 135,464,742 (GRCm39) E149D possibly damaging Het
Lama3 G A 18: 12,715,588 (GRCm39) M1681I probably benign Het
Loxhd1 G A 18: 77,518,828 (GRCm39) G1878D probably damaging Het
Mcc G A 18: 44,892,365 (GRCm39) T83M probably benign Het
Nol11 A T 11: 107,064,551 (GRCm39) C468S probably damaging Het
Nomo1 A G 7: 45,706,092 (GRCm39) N482S probably benign Het
Or8g21 T C 9: 38,905,865 (GRCm39) I289V possibly damaging Het
Pam T C 1: 97,782,446 (GRCm39) probably benign Het
Pank4 C T 4: 155,064,613 (GRCm39) T724I probably benign Het
Pramel34 T A 5: 93,785,572 (GRCm39) H236L possibly damaging Het
Sertm1 C T 3: 54,806,746 (GRCm39) C93Y probably damaging Het
Slc22a2 A G 17: 12,833,651 (GRCm39) T444A probably damaging Het
Trpm7 C A 2: 126,675,635 (GRCm39) L489F probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp25 A C 16: 76,912,341 (GRCm39) K1020T probably damaging Het
Vmn2r76 T C 7: 85,877,511 (GRCm39) T511A probably benign Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* probably null 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
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
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'- TGCCGAACATCCACTGATCC -3'
(R):5'- ACACTGTCTTCTTCCAAGCAG -3'

Sequencing Primer
(F):5'- TGATCCAACAAGACAGAGGTC -3'
(R):5'- TCCAAGCAGGACTCTAGTATGG -3'
Posted On 2015-07-07