Incidental Mutation 'IGL02281:Agrp'
ID289819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agrp
Ensembl Gene ENSMUSG00000005705
Gene Nameagouti related neuropeptide
Synonymsagouti related protein, Agrt
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02281
Quality Score
Status
Chromosome8
Chromosomal Location105566698-105637393 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105567154 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 60 (E60G)
Ref Sequence ENSEMBL: ENSMUSP00000142044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005849] [ENSMUST00000013304] [ENSMUST00000194091] [ENSMUST00000194654]
Predicted Effect probably benign
Transcript: ENSMUST00000005849
AA Change: E60G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005849
Gene: ENSMUSG00000005705
AA Change: E60G

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 probably benign
Transcript: ENSMUST00000194091
AA Change: E60G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705
AA Change: E60G

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194654
AA Change: E60G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141783
Gene: ENSMUSG00000005705
AA Change: E60G

DomainStartEndE-ValueType
Agouti 1 118 1.2e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195108
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 T G 11: 61,217,123 probably null Het
Bach2 T C 4: 32,562,513 C327R possibly damaging Het
Bcam C T 7: 19,758,691 G523D probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Calm1 A T 12: 100,205,624 I112F probably damaging Het
Ceacam3 T C 7: 17,161,731 V542A probably benign Het
Clec5a A T 6: 40,584,402 D36E probably benign Het
Clspn T A 4: 126,565,770 C321S possibly damaging Het
Cmtr1 T A 17: 29,691,281 D453E probably benign Het
Cntnap1 T A 11: 101,182,254 D561E possibly damaging Het
Cul5 A G 9: 53,635,049 V137A possibly damaging Het
Cyp2b9 A G 7: 26,201,104 Y389C probably damaging Het
Ddi2 A G 4: 141,692,419 V340A probably benign Het
Etv4 T C 11: 101,773,719 Y235C probably damaging Het
Gm3099 G A 14: 4,001,257 probably benign Het
Gpsm1 T A 2: 26,339,626 probably benign Het
Idh2 A G 7: 80,095,802 probably null Het
Kit G A 5: 75,654,534 E973K possibly damaging Het
Lilra5 A G 7: 4,238,783 I194V probably benign Het
Lrp6 A C 6: 134,457,734 N1335K probably benign Het
Map9 G A 3: 82,391,146 E613K possibly damaging Het
Mroh2b G A 15: 4,952,263 A1519T probably benign Het
Nefm A G 14: 68,124,464 V117A probably damaging Het
Nr2c2 T A 6: 92,154,514 S186T probably benign Het
Pde2a G A 7: 101,481,392 A80T probably benign Het
Plcd1 A T 9: 119,074,773 C334S probably benign Het
Pomt1 T C 2: 32,248,646 S425P possibly damaging Het
Pspc1 G T 14: 56,723,178 P497T probably benign Het
Rnf123 G A 9: 108,071,452 P58L probably benign Het
Rph3a T C 5: 120,948,833 T435A probably damaging Het
Rsbn1 T C 3: 103,962,461 L746P probably damaging Het
Sfrp2 A G 3: 83,773,139 E202G possibly damaging Het
Slc25a38 T C 9: 120,117,532 S111P probably damaging Het
Tfcp2l1 T C 1: 118,669,380 probably benign Het
Tonsl A T 15: 76,634,074 L566H probably damaging Het
Tsc1 C A 2: 28,663,595 D153E probably damaging Het
Vmn2r37 A T 7: 9,217,882 H327Q possibly damaging 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
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
R2495:Agrp UTSW 8 105566776 missense possibly damaging 0.94
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
Posted On2015-04-16