Incidental Mutation 'IGL01818:Agrp'
ID 154436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agrp
Ensembl Gene ENSMUSG00000005705
Gene Name agouti related neuropeptide
Synonyms Agrt, agouti related protein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01818
Quality Score
Status
Chromosome 8
Chromosomal Location 106293327-106306477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106294018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000141783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005849] [ENSMUST00000013304] [ENSMUST00000194091] [ENSMUST00000194654]
AlphaFold P56473
Predicted Effect probably benign
Transcript: ENSMUST00000005849
AA Change: D35G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000005849
Gene: ENSMUSG00000005705
AA Change: D35G

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: D35G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705
AA Change: D35G

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194654
AA Change: D35G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141783
Gene: ENSMUSG00000005705
AA Change: D35G

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3ar1 T C 6: 122,827,378 (GRCm39) N280D probably benign Het
Ccpg1 A G 9: 72,904,735 (GRCm39) T15A probably damaging Het
Chmp7 A G 14: 69,956,616 (GRCm39) V361A probably damaging Het
Dnmbp T A 19: 43,889,604 (GRCm39) K721M probably damaging Het
Elmod3 T C 6: 72,563,490 (GRCm39) E46G possibly damaging Het
Gm4922 T C 10: 18,660,701 (GRCm39) D7G unknown Het
H2-T24 C A 17: 36,328,128 (GRCm39) probably benign Het
Hal A T 10: 93,326,846 (GRCm39) T161S probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Minar1 T C 9: 89,483,366 (GRCm39) E677G probably damaging Het
Mrps31 T C 8: 22,901,483 (GRCm39) M1T probably null Het
Nckap1l T C 15: 103,386,709 (GRCm39) L628P probably damaging Het
Oosp2 T C 19: 11,627,053 (GRCm39) N90S probably benign Het
Pitpnm3 A G 11: 72,003,077 (GRCm39) probably benign Het
Ppox A T 1: 171,108,318 (GRCm39) I6K probably benign Het
Skint6 G T 4: 112,805,766 (GRCm39) Q690K probably benign Het
Stat1 T C 1: 52,190,437 (GRCm39) I564T probably damaging Het
Tiam1 T A 16: 89,664,592 (GRCm39) I539F probably damaging Het
Tmem191 A G 16: 17,095,594 (GRCm39) R35G possibly damaging Het
Trim30d A T 7: 104,121,267 (GRCm39) C343S probably damaging Het
Trpm3 T C 19: 22,891,838 (GRCm39) L736S probably damaging Het
Vmn2r73 T A 7: 85,519,109 (GRCm39) probably benign Het
Other mutations in Agrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Agrp APN 8 106,293,821 (GRCm39) missense probably benign 0.00
IGL02281:Agrp APN 8 106,293,786 (GRCm39) missense probably benign 0.09
R1613:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R1717:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R1719:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R1745:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R1746:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R1748:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R2106:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R2126:Agrp UTSW 8 106,293,467 (GRCm39) missense probably damaging 1.00
R2495:Agrp UTSW 8 106,293,408 (GRCm39) missense possibly damaging 0.94
R4860:Agrp UTSW 8 106,294,000 (GRCm39) missense probably benign 0.02
R4860:Agrp UTSW 8 106,294,000 (GRCm39) missense probably benign 0.02
R5777:Agrp UTSW 8 106,294,000 (GRCm39) missense probably benign 0.02
Posted On 2014-02-04