|Institutional Source||Beutler Lab|
|Gene Name||melanin-concentrating hormone receptor 1|
|Synonyms||melanin-concentrating hormone receptor 1, Gpr24-9, Gpr24, Mch1r, MCH-1R|
|Is this an essential gene?||Probably non essential (E-score: 0.067)|
|Stock #||R5930 (G1)|
|Chromosomal Location||81235499-81238964 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 81237843 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 265 (F265L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126191 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166855]|
AA Change: F265L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F265L
|Meta Mutation Damage Score||0.5503|
|Coding Region Coverage||
|Validation Efficiency||94% (102/109)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for some alleles may display osteoporosis, resistance to diet-induced obesity, abnormal pyramidal neuron physiology, hyperactivity, polyphagia, increased heart rate and body temperature, sleep behavior, and impaired conditioned learning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mchr1||
(F):5'- GATCTTTACTGGTTCACTCTGTATCAG -3'
(R):5'- TCTGAGCATTGCTGACCGTG -3'
(F):5'- GTTCACTCTGTATCAGTTTTTCCTGG -3'
(R):5'- ATTGCTGACCGTGCGAAG -3'