Incidental Mutation 'R8748:Mtnr1a'
ID 663652
Institutional Source Beutler Lab
Gene Symbol Mtnr1a
Ensembl Gene ENSMUSG00000054764
Gene Name melatonin receptor 1A
Synonyms Mel1a receptor, MelR
MMRRC Submission 068591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8748 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 45522174-45541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45538675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 38 (S38P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067984]
AlphaFold Q61184
Predicted Effect probably benign
Transcript: ENSMUST00000067984
SMART Domains Protein: ENSMUSP00000069872
Gene: ENSMUSG00000054764

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 38 315 1.8e-11 PFAM
Pfam:7TM_GPCR_Srsx 41 313 2.5e-10 PFAM
Pfam:7tm_1 47 298 5.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130141
AA Change: S38P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000115764
Gene: ENSMUSG00000054764
AA Change: S38P

DomainStartEndE-ValueType
Pfam:7tm_1 23 92 6e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 96% (43/45)
MGI Phenotype 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
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,836,597 (GRCm39) F1233I probably damaging Het
Acte1 T C 7: 143,445,556 (GRCm39) I201T probably benign Het
Adgrl2 A G 3: 148,532,026 (GRCm39) I87T Het
Atr A G 9: 95,814,476 (GRCm39) M2058V probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bscl2 A G 19: 8,825,311 (GRCm39) E365G probably damaging Het
Casd1 T A 6: 4,608,634 (GRCm39) S77R probably benign Het
Ccdc91 T C 6: 147,464,194 (GRCm39) I214T unknown Het
Chpf2 T C 5: 24,796,821 (GRCm39) F589S probably damaging Het
Cmya5 T A 13: 93,226,229 (GRCm39) Y2953F probably damaging Het
Cts8 A T 13: 61,397,086 (GRCm39) V278D probably damaging Het
Cyp20a1 T C 1: 60,392,181 (GRCm39) V79A probably damaging Het
Dach1 G A 14: 98,065,770 (GRCm39) Q686* probably null Het
Daxx A G 17: 34,131,138 (GRCm39) D355G probably damaging Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Eif4ebp2 A T 10: 61,270,806 (GRCm39) H74Q probably benign Het
Exoc3l T C 8: 106,016,777 (GRCm39) D679G probably damaging Het
Fam13c T A 10: 70,378,516 (GRCm39) W349R probably damaging Het
Fat3 A T 9: 15,834,161 (GRCm39) Y4144N possibly damaging Het
Gm37240 A G 3: 84,405,045 (GRCm39) *253Q probably null Het
Hycc1 T A 5: 24,170,320 (GRCm39) D343V probably benign Het
Ildr1 A C 16: 36,542,734 (GRCm39) E422A probably benign Het
Itsn2 A G 12: 4,751,337 (GRCm39) E1309G probably benign Het
Macf1 T C 4: 123,368,068 (GRCm39) D2231G probably benign Het
Or10d3 C G 9: 39,461,711 (GRCm39) G152A possibly damaging Het
Or10d3 C A 9: 39,461,712 (GRCm39) G152* probably null Het
Or10v5 A G 19: 11,805,596 (GRCm39) S265P probably damaging Het
Or11h6 G T 14: 50,880,211 (GRCm39) V152F probably benign Het
Pate13 A C 9: 35,820,351 (GRCm39) D25A probably damaging Het
Pcdhb9 G A 18: 37,535,901 (GRCm39) G632S probably damaging Het
Pgr C A 9: 8,958,449 (GRCm39) L819I probably benign Het
Phrf1 T C 7: 140,838,148 (GRCm39) S448P unknown Het
Pip5k1a A G 3: 94,971,695 (GRCm39) M471T probably benign Het
Postn A G 3: 54,296,760 (GRCm39) D758G probably damaging Het
Rbmyf9 T A Y: 3,774,915 (GRCm39) probably null Het
Rpl3 T C 15: 79,963,902 (GRCm39) I280V probably benign Het
Rtl1 A T 12: 109,561,492 (GRCm39) S116T probably benign Het
Six5 A G 7: 18,829,049 (GRCm39) H163R probably benign Het
Smarca4 A G 9: 21,546,164 (GRCm39) D114G possibly damaging Het
Tex46 C T 4: 136,337,808 (GRCm39) probably benign Het
Tmem144 A G 3: 79,743,539 (GRCm39) probably null Het
Unc5d T C 8: 29,186,453 (GRCm39) T617A probably benign Het
Vmn1r74 T A 7: 11,580,903 (GRCm39) S68T probably benign Het
Zfp184 G A 13: 22,144,217 (GRCm39) R641Q probably benign Het
Zfp583 C T 7: 6,319,419 (GRCm39) R531H probably benign Het
Zfp764 T C 7: 127,003,862 (GRCm39) E423G possibly damaging Het
Other mutations in Mtnr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Mtnr1a APN 8 45,522,419 (GRCm39) missense probably damaging 0.97
IGL03230:Mtnr1a APN 8 45,540,435 (GRCm39) missense probably damaging 1.00
R0149:Mtnr1a UTSW 8 45,522,352 (GRCm39) missense probably benign
R0744:Mtnr1a UTSW 8 45,540,974 (GRCm39) missense probably benign 0.27
R0833:Mtnr1a UTSW 8 45,540,974 (GRCm39) missense probably benign 0.27
R0836:Mtnr1a UTSW 8 45,540,974 (GRCm39) missense probably benign 0.27
R0856:Mtnr1a UTSW 8 45,540,870 (GRCm39) missense possibly damaging 0.86
R1445:Mtnr1a UTSW 8 45,540,782 (GRCm39) missense probably benign 0.27
R1983:Mtnr1a UTSW 8 45,540,471 (GRCm39) missense probably benign 0.01
R2444:Mtnr1a UTSW 8 45,540,695 (GRCm39) nonsense probably null
R2884:Mtnr1a UTSW 8 45,540,305 (GRCm39) missense probably benign 0.00
R3947:Mtnr1a UTSW 8 45,540,557 (GRCm39) missense probably damaging 1.00
R4829:Mtnr1a UTSW 8 45,538,652 (GRCm39) intron probably benign
R5681:Mtnr1a UTSW 8 45,540,974 (GRCm39) missense possibly damaging 0.47
R7908:Mtnr1a UTSW 8 45,540,863 (GRCm39) missense probably benign 0.22
R8742:Mtnr1a UTSW 8 45,540,720 (GRCm39) missense probably benign 0.00
R9119:Mtnr1a UTSW 8 45,541,003 (GRCm39) missense probably benign
R9454:Mtnr1a UTSW 8 45,538,612 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CTTGTGTGTCAAGCATTTTACCAAGG -3'
(R):5'- TAAATGGCTCCTCAACCCAG -3'

Sequencing Primer
(F):5'- CAAGGAGCCATTATGCTAGCCTATG -3'
(R):5'- AAATGGCTCCTCAACCCAGTTTTG -3'
Posted On 2021-03-08