Incidental Mutation 'R2495:Agrp'
ID250979
Institutional Source Beutler Lab
Gene Symbol Agrp
Ensembl Gene ENSMUSG00000005705
Gene Nameagouti related neuropeptide
Synonymsagouti related protein, Agrt
MMRRC Submission 040409-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2495 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location105566698-105637393 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105566776 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 126 (N126D)
Ref Sequence ENSEMBL: ENSMUSP00000142044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005849] [ENSMUST00000013304] [ENSMUST00000194091] [ENSMUST00000194654]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005849
AA Change: N126D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005849
Gene: ENSMUSG00000005705
AA Change: N126D

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000013304
SMART Domains Protein: ENSMUSP00000013304
Gene: ENSMUSG00000013160

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 347 2.4e-116 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192691
Predicted Effect possibly damaging
Transcript: ENSMUST00000194091
AA Change: N126D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705
AA Change: N126D

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194654
SMART Domains Protein: ENSMUSP00000141783
Gene: ENSMUSG00000005705

DomainStartEndE-ValueType
Agouti 1 118 1.2e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195108
Meta Mutation Damage Score 0.0623 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: This gene encodes a protein that regulates feeding behavior and plays a key role in the control of body weight. The encoded protein acts as an antagonist of melanocortin receptor signaling. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null mutation do not exhibit any detectable abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,481,960 F125S unknown Het
Abhd17c C T 7: 84,110,676 W290* probably null Het
Acsl5 A T 19: 55,293,599 K536* probably null Het
Adamts14 A T 10: 61,198,970 probably null Het
Agbl3 A G 6: 34,846,764 H788R probably damaging Het
Ambn T C 5: 88,467,804 I349T probably benign Het
Ank1 T C 8: 23,132,264 W1610R probably damaging Het
Aox3 T C 1: 58,188,408 L1224P probably damaging Het
Arhgef28 A T 13: 98,029,373 probably benign Het
Bcl11b G A 12: 107,915,447 H798Y possibly damaging Het
Capn11 T A 17: 45,638,763 M426L probably damaging Het
Cep95 A G 11: 106,809,282 K290E possibly damaging Het
Cic A G 7: 25,291,776 probably benign Het
Cnbd1 A T 4: 18,860,579 M389K probably damaging Het
Cnksr1 A T 4: 134,232,162 L387Q probably benign Het
Cntrob G T 11: 69,322,923 P14T probably damaging Het
Crmp1 G A 5: 37,246,097 probably null Het
Dido1 A G 2: 180,689,388 V89A probably benign Het
Dnah7a T A 1: 53,605,881 I999F probably damaging Het
Dsp T A 13: 38,193,477 L1746Q possibly damaging Het
Dst T C 1: 34,199,373 S3897P probably damaging Het
Fbxo10 A G 4: 45,040,545 F887L probably benign Het
Gm21961 T A 15: 65,014,873 H11L unknown Het
Gm4559 A T 7: 142,273,820 C182S unknown Het
Gm5724 C A 6: 141,765,777 M69I probably benign Het
Golga3 T A 5: 110,207,596 S939T probably damaging Het
Got2 A G 8: 95,888,290 S6P possibly damaging Het
Gpatch8 A T 11: 102,478,481 H1410Q probably damaging Het
Gpx5 T A 13: 21,291,440 T39S probably benign Het
Grin2b T C 6: 135,733,182 Y1122C probably damaging Het
Gsn A C 2: 35,303,193 N538T probably damaging Het
Helz2 A G 2: 181,232,912 S1930P probably damaging Het
Krt6b A T 15: 101,678,322 F286Y probably damaging Het
Lrriq1 G A 10: 103,202,381 R854C probably damaging Het
Mipol1 A T 12: 57,460,990 probably benign Het
Mmp19 A G 10: 128,790,950 probably benign Het
Msc T G 1: 14,755,249 Y167S probably benign Het
Mycbp2 T G 14: 103,200,118 K2103Q probably damaging Het
Myh11 C A 16: 14,205,557 D1586Y probably damaging Het
Nol6 A T 4: 41,118,427 D791E probably damaging Het
Pcm1 A G 8: 41,293,579 T1272A probably benign Het
Phgdh A G 3: 98,339,789 L15P probably damaging Het
Ptprk A T 10: 28,475,078 probably benign Het
Ralgapa2 G T 2: 146,361,400 D1091E possibly damaging Het
Rbbp8nl C A 2: 180,279,102 K496N probably null Het
Rbm26 T C 14: 105,151,312 probably benign Het
Rfx6 A C 10: 51,726,675 probably benign Het
Rras G A 7: 45,018,064 G17R probably damaging Het
Shisa6 G A 11: 66,217,633 P473S probably damaging Het
Slc9a3 A G 13: 74,158,703 K316E probably damaging Het
Spata31d1a A G 13: 59,701,993 S774P possibly damaging Het
Spsb4 T C 9: 96,995,787 Y161C probably damaging Het
Taf3 G T 2: 9,952,833 N174K probably damaging Het
Tectb C G 19: 55,180,999 probably benign Het
Trnt1 T A 6: 106,773,369 V78E possibly damaging Het
Ubox5 A T 2: 130,599,521 C415* probably null Het
Ucn2 C T 9: 108,986,409 P80S possibly damaging Het
Vmn2r10 G A 5: 108,996,095 T663I probably damaging Het
Wdfy1 A T 1: 79,707,505 F337L probably null Het
Zfp287 A T 11: 62,714,633 C483S probably damaging Het
Zyg11b A G 4: 108,244,724 probably null Het
Other mutations in Agrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Agrp APN 8 105567386 missense probably benign 0.02
IGL02186:Agrp APN 8 105567189 missense probably benign 0.00
IGL02281:Agrp APN 8 105567154 missense probably benign 0.09
R1613:Agrp UTSW 8 105566835 missense probably damaging 1.00
R1717:Agrp UTSW 8 105566835 missense probably damaging 1.00
R1719:Agrp UTSW 8 105566835 missense probably damaging 1.00
R1745:Agrp UTSW 8 105566835 missense probably damaging 1.00
R1746:Agrp UTSW 8 105566835 missense probably damaging 1.00
R1748:Agrp UTSW 8 105566835 missense probably damaging 1.00
R2106:Agrp UTSW 8 105566835 missense probably damaging 1.00
R2126:Agrp UTSW 8 105566835 missense probably damaging 1.00
R4860:Agrp UTSW 8 105567368 missense probably benign 0.02
R4860:Agrp UTSW 8 105567368 missense probably benign 0.02
R5777:Agrp UTSW 8 105567368 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCCTTCTGATTTCCCCAAGG -3'
(R):5'- TGCAGGTGCTAGATCCACAG -3'

Sequencing Primer
(F):5'- CAGATGATGGTGTAGCTTAGACCCC -3'
(R):5'- GGTGCTAGATCCACAGAACCG -3'
Posted On2014-12-04