|Institutional Source||Beutler Lab|
|Gene Name||melanocortin 3 receptor|
|Is this an essential gene?||Probably non essential (E-score: 0.158)|
|Stock #||R4491 (G1)|
|Chromosomal Location||172248492-172251114 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 172249203 bp|
|Amino Acid Change||Histidine to Arginine at position 115 (H115R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047358 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038532]|
|Predicted Effect||possibly damaging
AA Change: H115R
PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: H115R
|Meta Mutation Damage Score||0.0856|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
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 and adaptation to food restriction. Disruption of this gene results in an increased ratio of weight gain to food intake, increased fat mass, and decreased lean mass, without having a large effect on insulin sensitivity or glucose metabolism. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele exhibit obesity, increased respiratory quotient on a high fat diet, and reduced energy expenditure. Homozygotes for another null allele show reduced lean mass, increased fat mass, diet-induced obesity, increased insulin and leptin levels, and reduced energy expenditure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mc3r||
(F):5'- GGAAAACATCCTGGTGATCCTG -3'
(R):5'- GATGACCATCTTGCTCTCGG -3'
(F):5'- GATCCTGGCTGTGGTCAG -3'
(R):5'- TGCTCTCGGAGTAGATGATGAACATC -3'