Incidental Mutation 'R2990:Npy'
ID 257883
Institutional Source Beutler Lab
Gene Symbol Npy
Ensembl Gene ENSMUSG00000029819
Gene Name neuropeptide Y
Synonyms 0710005A05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R2990 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 49799690-49806487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49804492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 71 (E71G)
Ref Sequence ENSEMBL: ENSMUSP00000031843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031843]
AlphaFold P57774
Predicted Effect possibly damaging
Transcript: ENSMUST00000031843
AA Change: E71G

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031843
Gene: ENSMUSG00000029819
AA Change: E71G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 5.8e-19 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a neuropeptide that plays a pivotal role in many physiological functions such as food intake, energy homeostasis, circadian rhythm, and cognition. The encoded protein precursor undergoes proteolytic processing to generate the biologically active peptide. Mice lacking the encoded protein exhibit mild seizures occasionally and become hyperphagic following food deprivation. A deficiency of the encoded protein partially prevents mice lacking leptin from becoming obese. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit sporadic mild seizures and increased susceptibility to PTZ-induced seizures. Mice homozygous for a different null allele show hypoactivity and reduced exploratory behavior, an increased anxiety-related response in males, and increased defecation in females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Eipr1 C T 12: 28,909,267 (GRCm39) T178I probably benign Het
Fzd1 A G 5: 4,805,758 (GRCm39) V608A probably damaging Het
Gimap3 G T 6: 48,742,785 (GRCm39) F48L probably damaging Het
Itfg1 T C 8: 86,561,678 (GRCm39) T152A possibly damaging Het
Katnbl1 G T 2: 112,234,585 (GRCm39) K22N probably damaging Het
Lipm A G 19: 34,093,886 (GRCm39) I268V probably benign Het
Mapk8ip3 T C 17: 25,124,266 (GRCm39) I516V probably benign Het
Myo9a T C 9: 59,832,172 (GRCm39) L2567P possibly damaging Het
Parp2 A G 14: 51,054,457 (GRCm39) T203A probably benign Het
Rprd1a A C 18: 24,639,896 (GRCm39) L262V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Stat5b T C 11: 100,699,188 (GRCm39) probably null Het
Syde2 T C 3: 145,707,252 (GRCm39) F664S probably damaging Het
Tenm4 G T 7: 96,542,332 (GRCm39) probably null Het
Wapl A G 14: 34,458,665 (GRCm39) N909S probably damaging Het
Other mutations in Npy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Npy APN 6 49,806,314 (GRCm39) utr 3 prime probably benign
IGL03038:Npy APN 6 49,800,588 (GRCm39) missense probably benign
R1558:Npy UTSW 6 49,800,705 (GRCm39) missense probably damaging 1.00
R6519:Npy UTSW 6 49,800,669 (GRCm39) missense possibly damaging 0.88
R7239:Npy UTSW 6 49,800,587 (GRCm39) missense probably benign 0.01
R9435:Npy UTSW 6 49,804,481 (GRCm39) missense probably damaging 1.00
R9489:Npy UTSW 6 49,804,545 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CTGATGACATATGCTTCACACTCTG -3'
(R):5'- AAGGTCTTTCAGGTATGGTTCTCC -3'

Sequencing Primer
(F):5'- CATATGCTTCACACTCTGAGAATAC -3'
(R):5'- TCACCCTTCTTTTCTGGATGCTG -3'
Posted On 2015-01-11