Incidental Mutation 'R9119:Mtnr1a'
ID 692684
Institutional Source Beutler Lab
Gene Symbol Mtnr1a
Ensembl Gene ENSMUSG00000054764
Gene Name melatonin receptor 1A
Synonyms Mel1a receptor, MelR
MMRRC Submission 068922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9119 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 45522174-45541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45541003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 321 (M321I)
Ref Sequence ENSEMBL: ENSMUSP00000069872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067984]
AlphaFold Q61184
Predicted Effect probably benign
Transcript: ENSMUST00000067984
AA Change: M321I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069872
Gene: ENSMUSG00000054764
AA Change: M321I

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
SMART Domains Protein: ENSMUSP00000115764
Gene: ENSMUSG00000054764

DomainStartEndE-ValueType
Pfam:7tm_1 23 92 6e-10 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Aass A T 6: 23,094,000 (GRCm39) M517K probably benign Het
Abcc4 A G 14: 118,868,442 (GRCm39) V245A probably benign Het
Adgrv1 A G 13: 81,658,995 (GRCm39) V2783A probably damaging Het
Anxa3 T A 5: 96,976,557 (GRCm39) I181N Het
Ap4m1 T A 5: 138,174,303 (GRCm39) probably benign Het
C1ql1 T A 11: 102,836,879 (GRCm39) K137* probably null Het
Camkmt T A 17: 85,403,988 (GRCm39) L70Q probably damaging Het
Ceacam18 T C 7: 43,288,909 (GRCm39) L220P probably benign Het
Celsr2 C T 3: 108,309,288 (GRCm39) A1656T possibly damaging Het
Dnah6 T C 6: 73,037,186 (GRCm39) N3352S possibly damaging Het
Fbxo40 C A 16: 36,786,457 (GRCm39) R704L probably damaging Het
Fcho1 C T 8: 72,164,712 (GRCm39) G523E possibly damaging Het
Gas2l3 T C 10: 89,249,319 (GRCm39) T600A possibly damaging Het
Ggh T A 4: 20,057,955 (GRCm39) M172K probably damaging Het
Gpr137 G A 19: 6,915,811 (GRCm39) T373I probably benign Het
Kpna2rt T C 17: 90,217,621 (GRCm39) K42E probably damaging Het
Nebl T G 2: 17,405,370 (GRCm39) N383T probably damaging Het
Nob1 A G 8: 108,142,776 (GRCm39) S302P probably damaging Het
Ofcc1 A T 13: 40,334,016 (GRCm39) H358Q probably benign Het
Or6b3 G T 1: 92,438,904 (GRCm39) T282K probably damaging Het
Pkd1l1 G A 11: 8,829,107 (GRCm39) T1495I Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb4 G A 2: 135,809,872 (GRCm39) E609K probably damaging Het
Plxnd1 A T 6: 115,932,832 (GRCm39) probably benign Het
Prdm2 G A 4: 142,858,449 (GRCm39) Q1614* probably null Het
Psg21 T G 7: 18,381,409 (GRCm39) K378T probably benign Het
Ptprh T A 7: 4,555,712 (GRCm39) N749I probably benign Het
Ric8b T G 10: 84,783,334 (GRCm39) V64G possibly damaging Het
Sbf2 T C 7: 109,911,292 (GRCm39) T1793A possibly damaging Het
Scgb1c1 A G 7: 140,426,135 (GRCm39) H77R probably null Het
Sfswap C A 5: 129,591,829 (GRCm39) T282N probably benign Het
Sorcs3 A T 19: 48,642,433 (GRCm39) Y362F possibly damaging Het
Spata31h1 T C 10: 82,131,553 (GRCm39) T486A probably benign Het
Tpm4 A G 8: 72,892,525 (GRCm39) N76D probably benign Het
Tpr T A 1: 150,279,753 (GRCm39) L294Q probably damaging Het
Ttc3 C T 16: 94,192,950 (GRCm39) T237I probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ugt2a2 A G 5: 87,610,834 (GRCm39) V334A probably damaging Het
Usp38 A T 8: 81,711,228 (GRCm39) F936I probably damaging Het
Utp14b A G 1: 78,643,025 (GRCm39) K308E probably damaging Het
Vmn2r19 C T 6: 123,292,527 (GRCm39) P190S possibly damaging Het
Zbbx T C 3: 74,985,897 (GRCm39) E385G probably 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
R8748:Mtnr1a UTSW 8 45,538,675 (GRCm39) missense probably benign 0.00
R9454:Mtnr1a UTSW 8 45,538,612 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GTCTTATTGTGGCCTCAGACCC -3'
(R):5'- CTATGGAGGCAACCCTGAAG -3'

Sequencing Primer
(F):5'- TCAGACCCTGCCACCATGG -3'
(R):5'- GAGGCAACCCTGAAGAGCTTC -3'
Posted On 2021-12-30