Incidental Mutation 'IGL02186:Agrp'
ID 283634
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 # IGL02186
Quality Score
Status
Chromosome 8
Chromosomal Location 106293327-106306477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106293821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 48 (N48K)
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: N48K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005849
Gene: ENSMUSG00000005705
AA Change: N48K

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: N48K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705
AA Change: N48K

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194654
AA Change: N48K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141783
Gene: ENSMUSG00000005705
AA Change: N48K

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,811 (GRCm39) F100S unknown Het
Abca3 A G 17: 24,596,714 (GRCm39) Y389C possibly damaging Het
Acrbp G T 6: 125,031,773 (GRCm39) probably null Het
Adam21 G A 12: 81,605,983 (GRCm39) T593I possibly damaging Het
Adipor1 T A 1: 134,353,698 (GRCm39) M161K probably benign Het
Asprv1 A T 6: 86,605,900 (GRCm39) M249L probably damaging Het
Begain A G 12: 108,999,278 (GRCm39) Y703H probably damaging Het
Bspry T A 4: 62,414,226 (GRCm39) probably benign Het
Cct8l1 T G 5: 25,721,836 (GRCm39) S184A probably benign Het
Cdk13 C T 13: 17,947,112 (GRCm39) V549I probably benign Het
Cdyl2 C T 8: 117,306,025 (GRCm39) R412Q possibly damaging Het
Celf6 T C 9: 59,510,808 (GRCm39) S205P probably damaging Het
Cltc G A 11: 86,595,811 (GRCm39) A1263V possibly damaging Het
Cltc C A 11: 86,595,812 (GRCm39) A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,939 (GRCm39) F62L probably damaging Het
Dlec1 T A 9: 118,972,695 (GRCm39) C1473S probably benign Het
Dmbt1 T A 7: 130,694,986 (GRCm39) probably benign Het
Dnase1 G A 16: 3,856,896 (GRCm39) V176I probably benign Het
Dusp1 G T 17: 26,726,032 (GRCm39) Y220* probably null Het
Enpp3 A C 10: 24,667,881 (GRCm39) probably benign Het
Exosc10 T C 4: 148,649,755 (GRCm39) L395P probably damaging Het
Fn1 T C 1: 71,677,693 (GRCm39) K533R probably damaging Het
Gcm2 T A 13: 41,258,125 (GRCm39) T168S possibly damaging Het
Gm9924 C A 5: 31,252,491 (GRCm39) probably benign Het
Ifrd1 A G 12: 40,264,092 (GRCm39) V101A probably benign Het
Iqsec1 G T 6: 90,653,859 (GRCm39) Q629K probably damaging Het
Kcnma1 T A 14: 23,576,881 (GRCm39) M254L probably benign Het
Krit1 T C 5: 3,859,733 (GRCm39) probably benign Het
Letm1 T C 5: 33,902,391 (GRCm39) K633E probably benign Het
Mfsd1 A G 3: 67,503,928 (GRCm39) I307V probably benign Het
Mtrr T C 13: 68,712,476 (GRCm39) T637A probably benign Het
Naxe C A 3: 87,964,305 (GRCm39) D212Y probably damaging Het
Nlk A T 11: 78,477,762 (GRCm39) V327D probably damaging Het
Or2f1b A G 6: 42,739,880 (GRCm39) K298R probably null Het
Or5w11 A T 2: 87,459,715 (GRCm39) I187F probably benign Het
Pdzd8 C T 19: 59,289,060 (GRCm39) G780D probably damaging Het
Prune1 T C 3: 95,166,548 (GRCm39) probably benign Het
Qser1 A T 2: 104,618,606 (GRCm39) H645Q probably damaging Het
Rd3l A G 12: 111,945,901 (GRCm39) Y193H probably benign Het
Reln A G 5: 22,114,956 (GRCm39) Y3119H probably damaging Het
Scel C T 14: 103,802,257 (GRCm39) A219V probably benign Het
Skint11 A T 4: 114,101,833 (GRCm39) Q91L possibly damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc5a5 C A 8: 71,338,764 (GRCm39) D516Y possibly damaging Het
Slc8b1 G A 5: 120,665,928 (GRCm39) probably null Het
Slc9a3 A G 13: 74,311,233 (GRCm39) E576G possibly damaging Het
Slco1b2 A T 6: 141,580,271 (GRCm39) probably benign Het
Smc5 A G 19: 23,209,223 (GRCm39) V647A probably damaging Het
Snph T C 2: 151,436,263 (GRCm39) N222D possibly damaging Het
Srbd1 A G 17: 86,416,659 (GRCm39) F500L probably benign Het
Stxbp6 T C 12: 44,948,806 (GRCm39) D101G probably damaging Het
Taar7b A G 10: 23,875,879 (GRCm39) I15V probably benign Het
Tdrd12 G T 7: 35,200,826 (GRCm39) N338K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem219 A T 7: 126,495,988 (GRCm39) D128E probably benign Het
Togaram2 A G 17: 71,992,166 (GRCm39) T3A possibly damaging Het
Ttn C T 2: 76,724,627 (GRCm39) probably benign Het
Uchl1 C A 5: 66,834,382 (GRCm39) C47* probably null Het
Unc79 T G 12: 102,977,542 (GRCm39) S182A probably benign Het
Vmn2r1 A G 3: 63,989,138 (GRCm39) T26A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vps54 T C 11: 21,256,947 (GRCm39) V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 (GRCm39) V126G possibly damaging Het
Zmym2 A G 14: 57,180,808 (GRCm39) T907A probably benign Het
Other mutations in Agrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Agrp APN 8 106,294,018 (GRCm39) missense probably benign 0.02
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 2015-04-16