Incidental Mutation 'IGL00227:Npy6r'
ID2063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npy6r
Ensembl Gene ENSMUSG00000038071
Gene Nameneuropeptide Y receptor Y6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00227
Quality Score
Status
Chromosome18
Chromosomal Location44270127-44277700 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44276444 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 311 (T311S)
Ref Sequence ENSEMBL: ENSMUSP00000040797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042747]
Predicted Effect probably damaging
Transcript: ENSMUST00000042747
AA Change: T311S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040797
Gene: ENSMUSG00000038071
AA Change: T311S

DomainStartEndE-ValueType
low complexity region 33 41 N/A INTRINSIC
Pfam:7tm_1 52 318 3.5e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter allele exhibit enhanced performance on the rotarod test. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,688,529 probably null Het
Alms1 A G 6: 85,677,964 E2695G probably damaging Het
B3galnt2 A G 13: 13,987,431 N246D probably benign Het
Ces1h A T 8: 93,352,470 M495K unknown Het
Chga A G 12: 102,562,799 E345G probably damaging Het
Chrnb3 T C 8: 27,385,101 F43L probably benign Het
Ctu1 C A 7: 43,675,504 F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 Q40K probably benign Het
Dlg2 T C 7: 91,965,645 I264T probably damaging Het
Dnah1 C T 14: 31,286,896 V1974M probably damaging Het
Foxf2 C A 13: 31,626,189 P37Q unknown Het
Gtf2e2 T C 8: 33,776,445 probably benign Het
Hectd3 C A 4: 117,000,588 probably benign Het
Hectd3 T C 4: 117,000,587 probably benign Het
Hectd3 T C 4: 117,000,589 probably benign Het
Ift122 A T 6: 115,917,057 H901L probably benign Het
Itih1 C T 14: 30,942,889 probably null Het
Krt84 C A 15: 101,527,773 M460I probably benign Het
Moxd1 C T 10: 24,282,593 H382Y probably damaging Het
Olfr59 C T 11: 74,289,126 T160I probably damaging Het
Olfr665 C T 7: 104,881,517 T270I probably benign Het
Pbk T C 14: 65,813,891 I126T probably damaging Het
Pde1b C T 15: 103,526,680 S400F probably damaging Het
Plxna2 T A 1: 194,644,657 C300S probably damaging Het
Pnpla6 C T 8: 3,523,808 R419W probably damaging Het
Ppp4r3a A G 12: 101,049,794 L33P probably damaging Het
Ralb T A 1: 119,476,040 D119V probably benign Het
Relb A C 7: 19,622,924 probably null Het
Rims1 T A 1: 22,468,242 D609V probably damaging Het
Scnn1a A G 6: 125,338,379 T377A probably benign Het
Slc13a2 T C 11: 78,400,548 T367A probably damaging Het
Sort1 T C 3: 108,356,307 L807P probably damaging Het
Sptbn1 C A 11: 30,110,818 E2051* probably null Het
St6galnac1 T C 11: 116,767,706 I311V probably damaging Het
Other mutations in Npy6r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Npy6r APN 18 44276318 missense probably benign 0.01
IGL01103:Npy6r APN 18 44275518 missense probably benign 0.15
IGL02085:Npy6r APN 18 44275931 missense probably damaging 1.00
IGL02653:Npy6r APN 18 44276627 makesense probably null
IGL03305:Npy6r APN 18 44275854 missense probably damaging 1.00
R0588:Npy6r UTSW 18 44275821 missense possibly damaging 0.94
R1993:Npy6r UTSW 18 44276508 missense probably damaging 1.00
R2039:Npy6r UTSW 18 44276003 missense probably benign
R2567:Npy6r UTSW 18 44275821 missense possibly damaging 0.68
R4572:Npy6r UTSW 18 44275917 missense probably benign 0.03
R4584:Npy6r UTSW 18 44276195 missense probably damaging 1.00
R4611:Npy6r UTSW 18 44276401 missense probably damaging 1.00
R4741:Npy6r UTSW 18 44275724 missense probably damaging 1.00
R5145:Npy6r UTSW 18 44276619 missense probably benign 0.04
R5603:Npy6r UTSW 18 44276585 missense probably damaging 1.00
R5610:Npy6r UTSW 18 44275994 missense probably benign
R6030:Npy6r UTSW 18 44276082 missense probably benign 0.02
R6030:Npy6r UTSW 18 44276082 missense probably benign 0.02
R6083:Npy6r UTSW 18 44276492 missense probably damaging 0.99
R6364:Npy6r UTSW 18 44276511 missense possibly damaging 0.86
R7146:Npy6r UTSW 18 44275721 missense probably benign 0.30
R7178:Npy6r UTSW 18 44276484 missense probably damaging 1.00
R7180:Npy6r UTSW 18 44276156 missense probably benign
R7203:Npy6r UTSW 18 44275932 missense probably damaging 1.00
R7448:Npy6r UTSW 18 44276193 missense probably damaging 1.00
Posted On2011-12-09