|Institutional Source||Beutler Lab|
|Gene Name||melanocortin 5 receptor|
|Is this an essential gene?||Probably non essential (E-score: 0.109)|
|Stock #||R5521 (G1)|
|Chromosomal Location||68337603-68339711 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 68339677 bp (GRCm38)|
|Amino Acid Change||Leucine to Histidine at position 369 (L369H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000172148]|
AA Change: L369H
PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: L369H
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||94% (72/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in a severe defect in water repulsion and thermoregulation due to decreased production of sebaceous lipids. Males exhibit less aggressive and more defensive behavior when placed with wildtype males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mc5r||
(F):5'- CACCATGCTACTGGGGATTTTC -3'
(R):5'- CCACGGAGACAATTCACATGTG -3'
(F):5'- TAATGATCTCCTGCCCTCAGAACG -3'
(R):5'- AATTCACATGTGCATACCTCGG -3'