|Institutional Source||Beutler Lab|
|Gene Name||melanocortin 4 receptor|
|Is this an essential gene?||Probably non essential (E-score: 0.075)|
|Stock #||R1552 (G1)|
|Chromosomal Location||66857715-66860472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 66859695 bp|
|Amino Acid Change||Serine to Glycine at position 116 (S116G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054776 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057942]|
|Predicted Effect||probably benign
AA Change: S116G
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: S116G
|Meta Mutation Damage Score||0.0913|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
FUNCTION: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis. Disruption of this gene promotes hyperphagia and obesity, and is associated with increased cholesterol levels and insulin resistance. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mutations in this gene result in hyperglycemia and weight gain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mc4r||
(F):5'- ACAGTGCAAGCTGCCCAGATAC -3'
(R):5'- ACCCAGGAGGTTGGATCAGTTCAAG -3'
(F):5'- GCTGCCCAGATACAACTTATGATG -3'
(R):5'- TGTCATAAGCCTGTTGGAGAAC -3'