Incidental Mutation 'R1558:Npy'
ID 170413
Institutional Source Beutler Lab
Gene Symbol Npy
Ensembl Gene ENSMUSG00000029819
Gene Name neuropeptide Y
Synonyms 0710005A05Rik
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R1558 (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 49800705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 43 (E43G)
Ref Sequence ENSEMBL: ENSMUSP00000031843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031843]
AlphaFold P57774
Predicted Effect probably damaging
Transcript: ENSMUST00000031843
AA Change: E43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031843
Gene: ENSMUSG00000029819
AA Change: E43G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PAH 29 64 5.8e-19 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown 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
R2990:Npy UTSW 6 49,804,492 (GRCm39) missense possibly damaging 0.76
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'- GTCGGGGCAAGTGGTCTTCTAAAG -3'
(R):5'- CCAGTTTGTGGAGTGTGTACCCAG -3'

Sequencing Primer
(F):5'- TTCTAAAGATTTGGAAGTGGCG -3'
(R):5'- GAGTGTGTACCCAGCTCAC -3'
Posted On 2014-04-13