|Institutional Source||Beutler Lab|
|Gene Name||melatonin receptor 1A|
|Synonyms||MelR, Mel1a receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3947 (G1)|
|Chromosomal Location||45069137-45088506 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 45087520 bp|
|Amino Acid Change||Tyrosine to Histidine at position 173 (Y173H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069872 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067984]|
|Predicted Effect||probably damaging
AA Change: Y173H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y173H
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5528|
|Coding Region Coverage||
|Validation Efficiency||97% (32/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal, with normal circadian functions. In vitro studies report the absence of inhibitory effects of melatonin on suprachiasma neuronal firing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtnr1a||
(F):5'- CGCATTTCTAATGGGCTTGAG -3'
(R):5'- ACAAAGTTCCTGAAGTCCTGGG -3'
(F):5'- GAGTGTCATCGGCTCGATATTCAAC -3'
(R):5'- CTGAAGTCCTGGGGCTTCAG -3'