Incidental Mutation 'R4829:Mtnr1a'
ID 372672
Institutional Source Beutler Lab
Gene Symbol Mtnr1a
Ensembl Gene ENSMUSG00000054764
Gene Name melatonin receptor 1A
Synonyms Mel1a receptor, MelR
MMRRC Submission 042445-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4829 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 45522174-45541543 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 45538652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069872 (fasta)
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 unknown
Transcript: ENSMUST00000130141
AA Change: V30A
SMART Domains Protein: ENSMUSP00000115764
Gene: ENSMUSG00000054764
AA Change: V30A

DomainStartEndE-ValueType
Pfam:7tm_1 23 92 6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209488
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 98% (109/111)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,780 (GRCm39) V1323A probably damaging Het
Abcb1a T C 5: 8,773,214 (GRCm39) L814P probably damaging Het
Acat1 C A 9: 53,502,756 (GRCm39) G191V probably damaging Het
Acsbg3 A G 17: 57,190,500 (GRCm39) probably null Het
Adamts20 A T 15: 94,224,277 (GRCm39) D1184E probably benign Het
Adss1 T C 12: 112,601,147 (GRCm39) L283P probably damaging Het
Arid4a A G 12: 71,070,272 (GRCm39) probably null Het
Arid4b T A 13: 14,359,023 (GRCm39) D599E probably benign Het
AW146154 T C 7: 41,130,057 (GRCm39) K353R possibly damaging Het
Axdnd1 G T 1: 156,204,216 (GRCm39) R547S possibly damaging Het
Bcat1 A T 6: 144,961,201 (GRCm39) F134Y probably damaging Het
Camk2d C A 3: 126,573,646 (GRCm39) probably benign Het
Catsperg2 T G 7: 29,400,550 (GRCm39) K268T probably damaging Het
Ccar1 A C 10: 62,581,114 (GRCm39) F1103L unknown Het
Ccdc141 T A 2: 76,905,260 (GRCm39) E395D probably damaging Het
Cdc37l1 A G 19: 28,967,983 (GRCm39) T16A probably benign Het
Cdca2 T A 14: 67,931,202 (GRCm39) probably null Het
Cfap96 T C 8: 46,420,952 (GRCm39) I159V probably damaging Het
Cntn5 T G 9: 9,976,288 (GRCm39) K219Q probably damaging Het
Col23a1 C A 11: 51,448,413 (GRCm39) A202E unknown Het
Csmd1 G A 8: 16,177,310 (GRCm39) L1318F probably damaging Het
Csnk1g3 C T 18: 54,028,895 (GRCm39) A16V possibly damaging Het
Cspg4b A G 13: 113,504,696 (GRCm39) I1942V probably benign Het
Dab2 A G 15: 6,454,162 (GRCm39) D224G probably damaging Het
Ddr1 A T 17: 35,996,005 (GRCm39) C625S probably damaging Het
Dennd4a T C 9: 64,796,338 (GRCm39) V788A probably damaging Het
Dgcr2 T C 16: 17,660,617 (GRCm39) E402G possibly damaging Het
Dhcr7 T G 7: 143,391,654 (GRCm39) I81S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Fat1 C T 8: 45,489,199 (GRCm39) T3467I probably damaging Het
Fblim1 T C 4: 141,312,020 (GRCm39) E235G probably damaging Het
Fbxo38 T A 18: 62,651,662 (GRCm39) M548L probably benign Het
Fstl5 T C 3: 76,229,489 (GRCm39) Y97H probably damaging Het
Glb1l A T 1: 75,176,994 (GRCm39) S481T probably damaging Het
Gp2 A T 7: 119,056,407 (GRCm39) V22E possibly damaging Het
Grin1 A G 2: 25,208,736 (GRCm39) S55P possibly damaging Het
Herc2 A G 7: 55,756,240 (GRCm39) D760G probably benign Het
Hpn A G 7: 30,798,300 (GRCm39) probably benign Het
Hsf2 T C 10: 57,372,266 (GRCm39) V73A probably damaging Het
Ighv1-42 T C 12: 114,900,788 (GRCm39) Y80C probably benign Het
Ighv1-64 T C 12: 115,471,346 (GRCm39) K57R probably benign Het
Klc1 T C 12: 111,762,037 (GRCm39) I569T probably damaging Het
Klra3 T G 6: 130,300,579 (GRCm39) K263N probably benign Het
Lrcol1 C A 5: 110,502,393 (GRCm39) H90N probably benign Het
Mamdc4 T C 2: 25,455,368 (GRCm39) E921G possibly damaging Het
Mark1 G A 1: 184,637,724 (GRCm39) R622W possibly damaging Het
Mdga1 A G 17: 30,065,343 (GRCm39) S696P possibly damaging Het
Mmp1b C T 9: 7,370,729 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myo5a T C 9: 75,043,689 (GRCm39) I226T probably damaging Het
Ncoa6 G T 2: 155,257,147 (GRCm39) P799T probably damaging Het
Npc1l1 C T 11: 6,164,010 (GRCm39) probably null Het
Nxph3 T C 11: 95,402,321 (GRCm39) E31G probably benign Het
Obscn T C 11: 58,945,072 (GRCm39) I4649V probably null Het
Or10d4b A T 9: 39,534,734 (GRCm39) H103L probably damaging Het
Or8b12b G T 9: 37,684,243 (GRCm39) C96F probably damaging Het
Or8g35 A T 9: 39,381,663 (GRCm39) Y120N probably damaging Het
Or8h10 G A 2: 86,808,918 (GRCm39) S74L probably damaging Het
P3h3 G A 6: 124,818,601 (GRCm39) probably benign Het
Pcnx2 A T 8: 126,587,797 (GRCm39) probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pla2g4d A G 2: 120,097,224 (GRCm39) S792P probably damaging Het
Plppr4 A T 3: 117,129,240 (GRCm39) L76M possibly damaging Het
Ppp2r3d A T 9: 101,089,709 (GRCm39) S205T possibly damaging Het
Prkdc G A 16: 15,519,939 (GRCm39) D1126N possibly damaging Het
Prrt4 G A 6: 29,177,181 (GRCm39) S196L probably benign Het
Ptpn21 A C 12: 98,655,555 (GRCm39) S471A probably damaging Het
Ptprk C A 10: 28,456,480 (GRCm39) S9* probably null Het
Rassf4 A T 6: 116,622,103 (GRCm39) I163K possibly damaging Het
Rgs22 C A 15: 36,104,034 (GRCm39) R142S probably damaging Het
Rit2 C A 18: 31,345,726 (GRCm39) L73F probably damaging Het
Rrbp1 A C 2: 143,831,607 (GRCm39) S187A probably benign Het
Rspo2 A T 15: 42,956,583 (GRCm39) Y83* probably null Het
Scn5a C T 9: 119,363,773 (GRCm39) V456M probably benign Het
Scn9a T A 2: 66,382,057 (GRCm39) H290L probably benign Het
Smarca4 T C 9: 21,550,623 (GRCm39) I452T probably damaging Het
Smc2 T A 4: 52,449,612 (GRCm39) I198K probably damaging Het
Smim14 G A 5: 65,617,946 (GRCm39) probably benign Het
Spg11 A C 2: 121,938,936 (GRCm39) N339K probably benign Het
Spta1 A G 1: 174,065,493 (GRCm39) E2014G probably benign Het
Stk4 T C 2: 163,941,747 (GRCm39) probably null Het
Sypl1 C T 12: 33,017,645 (GRCm39) T121M probably damaging Het
Tas2r120 T A 6: 132,634,331 (GRCm39) F138I probably benign Het
Tcstv4 G A 13: 120,769,926 (GRCm39) C82Y possibly damaging Het
Tet2 A C 3: 133,182,381 (GRCm39) C1194W possibly damaging Het
Tex29 T C 8: 11,905,668 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,197,067 (GRCm39) T91S possibly damaging Het
Tnik A T 3: 28,593,690 (GRCm39) probably benign Het
Tnr A T 1: 159,685,974 (GRCm39) I402F probably benign Het
Unc93b1 A T 19: 3,994,293 (GRCm39) S475C probably damaging Het
Utrn T A 10: 12,539,205 (GRCm39) E1937D probably benign Het
Vmn1r227 A T 17: 20,955,927 (GRCm39) noncoding transcript Het
Vmn2r101 G A 17: 19,832,229 (GRCm39) V742I probably benign Het
Vmn2r81 T C 10: 79,083,635 (GRCm39) L3P possibly damaging Het
Zfp882 T G 8: 72,668,233 (GRCm39) H353Q 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
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'- CTTGTGTGTCAAGCATTTTACCAAG -3'
(R):5'- TAAATGGCTCCTCAACCCAGTTTTG -3'

Sequencing Primer
(F):5'- CAAGGAGCCATTATGCTAGCCTATG -3'
(R):5'- TTTTCAAAAGGCATCCAAAGCAGG -3'
Posted On 2016-03-01