Incidental Mutation 'R9688:Pyy'
ID 728999
Institutional Source Beutler Lab
Gene Symbol Pyy
Ensembl Gene ENSMUSG00000017311
Gene Name peptide YY
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9688 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101997502-101998658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101998099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 27 (D27V)
Ref Sequence ENSEMBL: ENSMUSP00000017455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017455] [ENSMUST00000127381] [ENSMUST00000177304]
AlphaFold Q9EPS2
Predicted Effect probably damaging
Transcript: ENSMUST00000017455
AA Change: D27V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017455
Gene: ENSMUSG00000017311
AA Change: D27V

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 9.28e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127381
AA Change: D27V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134812
Gene: ENSMUSG00000017311
AA Change: D27V

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 9.28e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177304
AA Change: D27V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135292
Gene: ENSMUSG00000017311
AA Change: D27V

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 9.28e-18 SMART
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.] This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded preproprotein is proteolytically processed to generate two alternative peptide products that differ in length by three amino acids. These peptides, secreted by endocrine cells in the gut, exhibit different binding affinities for each of the neuropeptide Y receptors. Binding of the encoded peptides to these receptors mediates regulation of pancreatic secretion, gut mobility and energy homeostasis. Rare variations in this gene could increase susceptibility to obesity and elevated serum levels of the encoded peptides may be associated with anorexia nervosa. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for one null mutation showed normal growth, food intake, and energy expenditure. Mice homozygous for another null allele exhibit polyphagia, increased adipose tissue and are resistant to the benefits of a high-protein diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A G 11: 23,469,067 (GRCm39) probably null Het
Abca2 G C 2: 25,324,459 (GRCm39) A272P possibly damaging Het
Adarb1 T A 10: 77,147,099 (GRCm39) D479V probably damaging Het
Amz2 T C 11: 109,320,765 (GRCm39) F162S probably damaging Het
Ano4 A T 10: 89,180,506 (GRCm39) M1K probably null Het
Antxr1 G A 6: 87,114,334 (GRCm39) R478C probably damaging Het
Apobr T C 7: 126,186,663 (GRCm39) S725P probably benign Het
Arap2 A T 5: 62,872,109 (GRCm39) D506E probably damaging Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Camk1g T A 1: 193,031,029 (GRCm39) R305W probably damaging Het
Ces2g A T 8: 105,691,304 (GRCm39) I147F probably benign Het
Cfap61 T C 2: 145,878,758 (GRCm39) F505L probably damaging Het
Cndp1 G C 18: 84,655,982 (GRCm39) N62K probably benign Het
Cog6 G T 3: 52,916,528 (GRCm39) Q214K probably benign Het
Depdc5 T A 5: 33,055,276 (GRCm39) Y226* probably null Het
Elp5 T A 11: 69,861,425 (GRCm39) I185F probably damaging Het
Ercc6 A C 14: 32,297,755 (GRCm39) H1334P probably benign Het
Ern1 T C 11: 106,349,836 (GRCm39) T27A possibly damaging Het
Esf1 A T 2: 140,010,095 (GRCm39) D80E probably damaging Het
Evpl T C 11: 116,124,986 (GRCm39) K159E probably damaging Het
Gbx1 T C 5: 24,731,510 (GRCm39) Y102C probably damaging Het
Gjd2 A G 2: 113,842,109 (GRCm39) S123P probably benign Het
H2-M11 A G 17: 36,859,054 (GRCm39) Y198C probably damaging Het
Hps1 A C 19: 42,755,147 (GRCm39) V265G probably benign Het
Ifna16 C A 4: 88,594,874 (GRCm39) E74* probably null Het
Inca1 C T 11: 70,579,810 (GRCm39) probably null Het
Jag2 A G 12: 112,872,564 (GRCm39) V1230A probably benign Het
Jam3 G A 9: 27,010,204 (GRCm39) T260M probably benign Het
Klhl5 A T 5: 65,321,930 (GRCm39) D652V probably damaging Het
L3mbtl1 A T 2: 162,790,697 (GRCm39) I81L possibly damaging Het
Lgalsl C T 11: 20,779,442 (GRCm39) A68T probably benign Het
Map3k14 T A 11: 103,130,059 (GRCm39) D286V possibly damaging Het
Mdn1 A G 4: 32,745,590 (GRCm39) I4083V probably damaging Het
Ms4a5 T C 19: 11,254,058 (GRCm39) I136M possibly damaging Het
Mtcl3 T C 10: 29,072,691 (GRCm39) V661A possibly damaging Het
Naa16 A T 14: 79,573,309 (GRCm39) Y820* probably null Het
Nbea G T 3: 55,557,165 (GRCm39) N2537K probably benign Het
Ncapd3 A G 9: 26,967,349 (GRCm39) S562G probably benign Het
Or5t5 A C 2: 86,617,005 (GRCm39) K310N probably damaging Het
Or6c1b C A 10: 129,272,967 (GRCm39) C95* probably null Het
Pcdhac2 A G 18: 37,277,628 (GRCm39) S203G probably benign Het
Pds5a A T 5: 65,812,196 (GRCm39) F309I probably benign Het
Pdzd8 G A 19: 59,333,683 (GRCm39) L113F probably benign Het
Pex12 T C 11: 83,189,257 (GRCm39) Y4C possibly damaging Het
Ppfibp2 A G 7: 107,318,448 (GRCm39) D332G probably benign Het
Psg23 A T 7: 18,344,547 (GRCm39) W303R probably damaging Het
Rc3h1 A G 1: 160,770,234 (GRCm39) Q302R probably damaging Het
Rhoh A G 5: 66,049,656 (GRCm39) probably benign Het
Samd9l A G 6: 3,377,087 (GRCm39) M58T probably damaging Het
Scaf11 A C 15: 96,313,808 (GRCm39) H1324Q probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Setx A T 2: 29,036,328 (GRCm39) S938C probably damaging Het
Sgo2a A T 1: 58,056,737 (GRCm39) T974S probably damaging Het
Sh3rf1 T C 8: 61,679,348 (GRCm39) V130A probably benign Het
Slc43a2 T C 11: 75,434,112 (GRCm39) F97L probably damaging Het
Slc9a9 C A 9: 95,111,107 (GRCm39) Q642K probably benign Het
Sox6 G T 7: 115,076,225 (GRCm39) D804E probably benign Het
Tbx15 A T 3: 99,233,708 (GRCm39) R290S possibly damaging Het
Tent4a A G 13: 69,655,199 (GRCm39) L425P probably damaging Het
Terf2 A G 8: 107,821,543 (GRCm39) S176P probably damaging Het
Ttc6 A T 12: 57,720,602 (GRCm39) H956L possibly damaging Het
Tti2 T C 8: 31,644,279 (GRCm39) V292A probably damaging Het
Vmn1r29 A T 6: 58,284,739 (GRCm39) E153V probably benign Het
Vmn1r55 G T 7: 5,149,669 (GRCm39) H251Q probably benign Het
Yeats4 T C 10: 117,051,586 (GRCm39) T224A probably benign Het
Yipf4 T A 17: 74,806,078 (GRCm39) F239Y probably benign Het
Zan T C 5: 137,466,717 (GRCm39) D380G probably damaging Het
Zbtb9 T C 17: 27,193,894 (GRCm39) F433S probably damaging Het
Zic5 T C 14: 122,701,435 (GRCm39) K432R unknown Het
Other mutations in Pyy
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4664:Pyy UTSW 11 101,998,178 (GRCm39) start codon destroyed possibly damaging 0.58
R7137:Pyy UTSW 11 101,998,099 (GRCm39) missense possibly damaging 0.94
R9408:Pyy UTSW 11 101,998,111 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTTGGAGAACAGAGCTGC -3'
(R):5'- ACTGAGGCTAGAGATGGTGC -3'

Sequencing Primer
(F):5'- TTTCCATACCTGGGGGCG -3'
(R):5'- CGGTAGAAGACTAGGTGAATCC -3'
Posted On 2022-10-06