Incidental Mutation 'R2884:Mtnr1a'
ID 260965
Institutional Source Beutler Lab
Gene Symbol Mtnr1a
Ensembl Gene ENSMUSG00000054764
Gene Name melatonin receptor 1A
Synonyms Mel1a receptor, MelR
MMRRC Submission 040472-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2884 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 45522174-45541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45540305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 89 (T89A)
Ref Sequence ENSEMBL: ENSMUSP00000069872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067984]
AlphaFold Q61184
Predicted Effect probably benign
Transcript: ENSMUST00000067984
AA Change: T89A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069872
Gene: ENSMUSG00000054764
AA Change: T89A

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 unknown
Transcript: ENSMUST00000130141
AA Change: T63A
SMART Domains Protein: ENSMUSP00000115764
Gene: ENSMUSG00000054764
AA Change: T63A

DomainStartEndE-ValueType
Pfam:7tm_1 23 92 6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209488
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,872,250 (GRCm39) E59D possibly damaging Het
Arhgap27 T C 11: 103,251,669 (GRCm39) probably null Het
BC061237 A G 14: 44,738,627 (GRCm39) R9G possibly damaging Het
Brsk1 A G 7: 4,694,122 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cspg4b G T 13: 113,505,725 (GRCm39) A2285S probably benign Het
Cspg4b A T 13: 113,457,216 (GRCm39) Q1087H probably damaging Het
Dnajb5 A T 4: 42,957,355 (GRCm39) D284V probably damaging Het
Dnmt3a A G 12: 3,946,132 (GRCm39) D329G probably damaging Het
Ecd C T 14: 20,370,841 (GRCm39) G626D probably damaging Het
Exoc3l4 A G 12: 111,394,956 (GRCm39) D551G possibly damaging Het
Fam227b A T 2: 125,942,846 (GRCm39) I317N probably benign Het
Fam3c G A 6: 22,329,581 (GRCm39) R49C probably damaging Het
Fcrl5 A G 3: 87,364,698 (GRCm39) Y566C probably damaging Het
Fras1 A G 5: 96,848,127 (GRCm39) N1779S probably benign Het
Gm19965 T A 1: 116,749,313 (GRCm39) N331K probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
H2ac8 A G 13: 23,755,047 (GRCm39) I79T probably damaging Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Habp4 A T 13: 64,330,080 (GRCm39) R328S probably benign Het
Hexb C T 13: 97,320,208 (GRCm39) G272D probably damaging Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Myh13 T A 11: 67,228,469 (GRCm39) N336K probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nprl3 A G 11: 32,198,163 (GRCm39) L179P probably damaging Het
Nup93 A G 8: 95,030,266 (GRCm39) Y375C probably damaging Het
Or52b4 A G 7: 102,184,439 (GRCm39) I162V probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plekhs1 G A 19: 56,459,258 (GRCm39) G39R probably benign Het
Ppp4r3a T C 12: 101,034,936 (GRCm39) E53G probably damaging Het
Prss48 A T 3: 85,904,562 (GRCm39) M212K probably benign Het
Pth A T 7: 112,985,235 (GRCm39) L46Q probably damaging Het
Rin2 A T 2: 145,702,911 (GRCm39) T536S probably benign Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Stau2 A T 1: 16,301,290 (GRCm39) F519Y possibly damaging Het
Syne2 T G 12: 76,010,533 (GRCm39) V2481G probably benign Het
Tpte C T 8: 22,825,439 (GRCm39) Q331* probably null Het
Ttn G T 2: 76,730,596 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r88 G A 14: 51,651,391 (GRCm39) C235Y probably damaging Het
Xrn2 T A 2: 146,889,576 (GRCm39) V653E probably damaging Het
Znrf3 A T 11: 5,239,693 (GRCm39) D58E 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
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
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'- CTTCCCTTTCTTTAGCATATGGAAG -3'
(R):5'- ACACGTAGCAGAGCGAGTTC -3'

Sequencing Primer
(F):5'- CACTTGCTCTAGGACTATAGGCAG -3'
(R):5'- AGCAGAGCGAGTTCTTGTTAC -3'
Posted On 2015-01-23