Incidental Mutation 'R7137:Pyy'
ID 553140
Institutional Source Beutler Lab
Gene Symbol Pyy
Ensembl Gene ENSMUSG00000017311
Gene Name peptide YY
Synonyms
MMRRC Submission 045248-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7137 (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 G at 101998099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 27 (D27A)
Ref Sequence ENSEMBL: ENSMUSP00000017455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017455] [ENSMUST00000127381] [ENSMUST00000177304]
AlphaFold Q9EPS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000017455
AA Change: D27A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017455
Gene: ENSMUSG00000017311
AA Change: D27A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 9.28e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127381
AA Change: D27A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134812
Gene: ENSMUSG00000017311
AA Change: D27A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 9.28e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177304
AA Change: D27A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135292
Gene: ENSMUSG00000017311
AA Change: D27A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 9.28e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,654,944 (GRCm39) S1423P possibly damaging Het
Acvr1c A G 2: 58,173,399 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,788 (GRCm39) K1161R probably damaging Het
Aoc1l3 A G 6: 48,967,083 (GRCm39) Y677C probably damaging Het
Arhgap32 T G 9: 32,063,232 (GRCm39) D80E probably benign Het
Aspg T C 12: 112,078,632 (GRCm39) V30A possibly damaging Het
Bcl2a1d T C 9: 88,613,531 (GRCm39) D81G probably damaging Het
Cep170b T C 12: 112,701,601 (GRCm39) V160A probably benign Het
Ces1c T C 8: 93,857,470 (GRCm39) Y37C probably benign Het
Cntnap5a T C 1: 116,017,106 (GRCm39) L233P probably damaging Het
Crem C A 18: 3,273,459 (GRCm39) A245S possibly damaging Het
Cyp2d12 C T 15: 82,442,022 (GRCm39) A280V probably benign Het
Dnah2 C T 11: 69,382,381 (GRCm39) G1243D probably damaging Het
Eif1ad19 A T 12: 87,740,316 (GRCm39) L81Q possibly damaging Het
Emcn T G 3: 137,109,752 (GRCm39) N131K probably damaging Het
Fat3 A T 9: 15,908,444 (GRCm39) D2519E probably damaging Het
Fibin T A 2: 110,193,001 (GRCm39) D47V probably damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Gimap8 C A 6: 48,627,187 (GRCm39) L54I probably damaging Het
Gm20481 A G 17: 35,189,071 (GRCm39) Y27C unknown Het
Grin1 T G 2: 25,203,550 (GRCm39) M154L probably benign Het
Ighv8-13 A G 12: 115,729,197 (GRCm39) L20P probably damaging Het
Insc G A 7: 114,410,850 (GRCm39) V236I probably benign Het
Lrrk1 A G 7: 65,935,027 (GRCm39) F1031L probably benign Het
Man2a2 C A 7: 80,009,499 (GRCm39) R785L probably benign Het
Mcur1 C A 13: 43,697,931 (GRCm39) probably null Het
Med12l A C 3: 59,165,675 (GRCm39) R1464S probably damaging Het
Mycbp2 A T 14: 103,520,115 (GRCm39) M767K possibly damaging Het
Naalad2 T C 9: 18,234,783 (GRCm39) I762V probably benign Het
Nfkbid A G 7: 30,125,681 (GRCm39) T357A possibly damaging Het
Pcdh17 A G 14: 84,770,989 (GRCm39) R1156G possibly damaging Het
Pcdhb1 T C 18: 37,400,445 (GRCm39) S799P possibly damaging Het
Pde3a A T 6: 141,444,472 (GRCm39) E1093D probably benign Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Plxna4 A G 6: 32,494,199 (GRCm39) L139P probably damaging Het
Psma1 A G 7: 113,873,683 (GRCm39) Y6H probably damaging Het
Psmd2 A G 16: 20,471,377 (GRCm39) E76G probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Slc22a2 A G 17: 12,803,228 (GRCm39) T21A probably benign Het
Slc25a2 T C 18: 37,771,200 (GRCm39) I110V probably benign Het
Sult1c2 A C 17: 54,145,422 (GRCm39) W85G probably damaging Het
Syt12 C T 19: 4,503,978 (GRCm39) D218N probably damaging Het
Tln1 C T 4: 43,540,616 (GRCm39) V1462M probably damaging Het
Tor1aip2 T A 1: 155,927,722 (GRCm39) N33K possibly damaging Het
Usp17lb C A 7: 104,490,798 (GRCm39) W43L probably benign Het
Vmn1r76 A G 7: 11,664,612 (GRCm39) Y201H possibly damaging Het
Wnk1 C A 6: 120,015,173 (GRCm39) probably benign Het
Wrnip1 A G 13: 32,986,732 (GRCm39) D171G probably benign Het
Zar1 T A 5: 72,738,159 (GRCm39) N81I probably damaging Het
Zbtb45 T C 7: 12,741,083 (GRCm39) T392A probably benign Het
Zfp445 T C 9: 122,683,843 (GRCm39) E272G probably damaging Het
Other mutations in Pyy
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4664:Pyy UTSW 11 101,998,178 (GRCm39) start codon destroyed possibly damaging 0.58
R9408:Pyy UTSW 11 101,998,111 (GRCm39) missense probably damaging 1.00
R9688:Pyy UTSW 11 101,998,099 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTTGGAGAACAGAGCTGCG -3'
(R):5'- ACTGAGGCTAGAGATGGTGC -3'

Sequencing Primer
(F):5'- TTTCCATACCTGGGGGCG -3'
(R):5'- CGGTAGAAGACTAGGTGAATCC -3'
Posted On 2019-05-15