|Institutional Source||Beutler Lab|
|Gene Name||neuropeptide Y|
|Is this an essential gene?||Possibly non essential (E-score: 0.363)|
|Stock #||R6519 (G1)|
|Chromosomal Location||49822710-49829507 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 49823689 bp|
|Amino Acid Change||Serine to Phenylalanine at position 31 (S31F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031843 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031843]|
|Predicted Effect||possibly damaging
AA Change: S31F
PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: S31F
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
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||
|Other mutations in Npy||
(F):5'- AAGATTTGGAAGTGGCGCCTG -3'
(R):5'- GATCCCTGATGTCCAAGATCTC -3'
(F):5'- CCAGTCTGGGCTTTTATTCTAGG -3'
(R):5'- GATCTCCAGAACCGCAAGTTTTC -3'