|Institutional Source||Beutler Lab|
|Gene Name||melanocortin 2 receptor|
|Synonyms||adrenocorticotropic hormone receptor, Acthr|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6364 (G1)|
|Chromosomal Location||68406907-68429251 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 68407536 bp|
|Amino Acid Change||Isoleucine to Leucine at position 229 (I229L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058691 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052347]|
|Predicted Effect||probably benign
AA Change: I229L
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: I229L
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality due to impaired gluconeogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mc2r||
(F):5'- AATGCATCTCTGAGCTCTGGG -3'
(R):5'- TCTGGATGTTCTGCACAGG -3'
(F):5'- GCTCTGGGCTCCGAAAG -3'
(R):5'- ATGTTCTGCACAGGGAGCG -3'