Incidental Mutation 'R1748:Agrp'
ID194124
Institutional Source Beutler Lab
Gene Symbol Agrp
Ensembl Gene ENSMUSG00000005705
Gene Nameagouti related neuropeptide
Synonymsagouti related protein, Agrt
MMRRC Submission 039780-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1748 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location105566698-105637393 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 105566835 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 106 (T106K)
Ref Sequence ENSEMBL: ENSMUSP00000141783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005849] [ENSMUST00000013304] [ENSMUST00000194091] [ENSMUST00000194654]
Predicted Effect probably damaging
Transcript: ENSMUST00000005849
AA Change: T106K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005849
Gene: ENSMUSG00000005705
AA Change: T106K

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 damaging
Transcript: ENSMUST00000194091
AA Change: T106K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705
AA Change: T106K

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194654
AA Change: T106K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141783
Gene: ENSMUSG00000005705
AA Change: T106K

DomainStartEndE-ValueType
Agouti 1 118 1.2e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195108
Meta Mutation Damage Score 0.6999 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,333,588 Q1403K probably benign Het
Adamts12 G A 15: 11,241,462 M373I probably damaging Het
Aire T C 10: 78,043,480 H15R probably damaging Het
Aldh3b2 T C 19: 3,977,572 F38L probably damaging Het
Alk A C 17: 72,603,421 C97G probably benign Het
Ano8 T C 8: 71,478,958 probably benign Het
Anpep C T 7: 79,838,256 E518K probably benign Het
Arsk T A 13: 76,062,410 H506L probably benign Het
Asgr2 G T 11: 70,096,832 R52L probably damaging Het
Atp2a1 A G 7: 126,459,608 I145T possibly damaging Het
Atrnl1 A G 19: 57,714,702 T1051A probably damaging Het
Cacna1e A T 1: 154,486,569 V424D possibly damaging Het
Capn3 T C 2: 120,497,013 V574A probably benign Het
Capzb C A 4: 139,257,368 D67E probably damaging Het
Ccdc68 A T 18: 69,955,991 T202S probably benign Het
Ccser2 T C 14: 36,896,313 K123R probably damaging Het
Ccser2 T A 14: 36,896,314 K123* probably null Het
Ces2h T C 8: 105,017,841 I316T probably benign Het
Chd3 T G 11: 69,364,697 K122Q possibly damaging Het
Col12a1 T C 9: 79,672,997 T1533A probably benign Het
Cr2 T A 1: 195,155,905 K1084* probably null Het
Ddx28 A G 8: 106,010,682 L248P probably benign Het
Depdc5 A G 5: 32,917,942 E488G probably benign Het
Dld T C 12: 31,334,746 T305A probably benign Het
Dok5 T A 2: 170,841,453 F211L probably damaging Het
Duox2 T C 2: 122,287,051 D934G probably benign Het
Eif3a G A 19: 60,766,798 T982I unknown Het
Erbb2 G T 11: 98,435,335 R979L probably benign Het
Espl1 G T 15: 102,298,529 V143L possibly damaging Het
Fanci T C 7: 79,430,488 L598P probably damaging Het
Fat2 T A 11: 55,256,647 E3923V probably damaging Het
Fhod3 A T 18: 24,770,493 K95* probably null Het
Gm16286 T C 18: 80,211,946 S152P probably benign Het
Gm7534 C G 4: 134,200,299 C381S probably damaging Het
Gm7534 T A 4: 134,202,119 T292S possibly damaging Het
Gpr108 G T 17: 57,236,217 T484K probably damaging Het
Hao1 T A 2: 134,498,318 N351I possibly damaging Het
Hepacam A T 9: 37,383,893 N308I possibly damaging Het
Herc2 T C 7: 56,148,823 probably null Het
Hltf T C 3: 20,076,521 I301T probably benign Het
Igsf10 A T 3: 59,319,093 N2386K probably damaging Het
Ikbke G T 1: 131,259,200 T585K probably benign Het
Iqgap3 A G 3: 88,113,980 T448A possibly damaging Het
Kl T C 5: 150,980,985 S401P possibly damaging Het
Lama4 T C 10: 39,065,619 V684A probably benign Het
Lgals8 A T 13: 12,454,943 F45Y probably damaging Het
Lgalsl G A 11: 20,826,491 R134C probably benign Het
Lmcd1 T C 6: 112,329,914 V349A probably benign Het
Lrp1b T A 2: 41,728,706 N119Y possibly damaging Het
Lrrc73 T A 17: 46,255,695 I157N probably damaging Het
Map3k8 A G 18: 4,334,766 Y293H probably damaging Het
Mybphl A T 3: 108,375,084 probably null Het
Ndrg1 A G 15: 66,931,081 M140T possibly damaging Het
Olfr138 T A 17: 38,275,106 C112S possibly damaging Het
Olfr885 A G 9: 38,061,500 Y60C probably damaging Het
Pbx2 T C 17: 34,593,977 S76P possibly damaging Het
Plcl2 T A 17: 50,606,798 S278R probably benign Het
Polr3d A T 14: 70,439,475 L393* probably null Het
Prmt6 T C 3: 110,250,367 Q202R probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Sag T A 1: 87,831,940 I300N probably damaging Het
Sap25 T A 5: 137,641,918 probably null Het
Scarb2 A G 5: 92,460,836 L177P probably damaging Het
Sh3pxd2b A T 11: 32,422,203 N457Y possibly damaging Het
Siae T A 9: 37,631,606 probably null Het
Slc36a1 T C 11: 55,228,324 L375P probably damaging Het
Smg8 A G 11: 87,085,768 V329A probably damaging Het
Tas2r113 A T 6: 132,893,732 Y241F probably damaging Het
Tm9sf3 T G 19: 41,256,229 S70R probably benign Het
Tmem144 C T 3: 79,825,287 S228N probably damaging Het
Tmem45a C A 16: 56,822,338 V157F possibly damaging Het
Tpbg G T 9: 85,844,376 V133L probably damaging Het
Trpv3 G A 11: 73,295,383 V667I possibly damaging Het
Ube2c T C 2: 164,771,321 F53S probably damaging Het
Vmn1r78 T A 7: 12,153,323 V287D probably damaging Het
Vmn2r114 T A 17: 23,308,061 D499V probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTGTGGTTCCAGCATGACGAC -3'
(R):5'- GCGCATCAGATACCATCATCTCTCC -3'

Sequencing Primer
(F):5'- GCCCCGACAACCCTTCG -3'
(R):5'- GATTACCCAACCTGGGCAG -3'
Posted On2014-05-23