Incidental Mutation 'IGL03230:Mtnr1a'
ID 413845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtnr1a
Ensembl Gene ENSMUSG00000054764
Gene Name melatonin receptor 1A
Synonyms Mel1a receptor, MelR
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03230
Quality Score
Status
Chromosome 8
Chromosomal Location 45522174-45541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45540435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 132 (I132T)
Ref Sequence ENSEMBL: ENSMUSP00000069872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067984]
AlphaFold Q61184
Predicted Effect probably damaging
Transcript: ENSMUST00000067984
AA Change: I132T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069872
Gene: ENSMUSG00000054764
AA Change: I132T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209488
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,244,313 (GRCm39) Q2059K probably benign Het
Abcc1 A T 16: 14,275,811 (GRCm39) T902S probably benign Het
Acly A T 11: 100,384,885 (GRCm39) C623S probably damaging Het
Ak8 A G 2: 28,599,935 (GRCm39) probably benign Het
Birc6 A G 17: 74,918,065 (GRCm39) D1811G probably damaging Het
Bms1 T A 6: 118,395,522 (GRCm39) K8N possibly damaging Het
Cdc25b T C 2: 131,030,060 (GRCm39) F79L probably benign Het
Cdh13 T A 8: 119,969,056 (GRCm39) V471D probably damaging Het
Cnot4 T C 6: 35,028,344 (GRCm39) D424G probably damaging Het
Cyp2a12 A T 7: 26,729,017 (GRCm39) I70F possibly damaging Het
Cyp2c66 A T 19: 39,172,302 (GRCm39) R406W possibly damaging Het
Cyp2g1 C A 7: 26,518,828 (GRCm39) P408Q probably damaging Het
Defa26 A G 8: 22,108,314 (GRCm39) D39G probably damaging Het
Dnah1 A T 14: 30,992,023 (GRCm39) S3020T probably damaging Het
Dst A T 1: 34,223,133 (GRCm39) K1119* probably null Het
Gm10110 A C 14: 90,135,733 (GRCm39) noncoding transcript Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Hpx A T 7: 105,248,519 (GRCm39) I94N probably benign Het
Il23r C T 6: 67,400,948 (GRCm39) A461T probably benign Het
Iqca1 A G 1: 90,072,724 (GRCm39) I52T probably damaging Het
Kif21b T A 1: 136,090,550 (GRCm39) M1146K probably benign Het
Kifap3 C A 1: 163,653,293 (GRCm39) T293K probably benign Het
Luzp1 G A 4: 136,270,189 (GRCm39) S804N probably benign Het
Mcmdc2 C T 1: 10,002,221 (GRCm39) probably benign Het
Mctp1 G T 13: 76,972,976 (GRCm39) A403S possibly damaging Het
Musk T A 4: 58,296,710 (GRCm39) N103K probably damaging Het
Nipal2 T A 15: 34,575,702 (GRCm39) D352V probably damaging Het
Oas1a T A 5: 121,036,419 (GRCm39) K336I probably benign Het
Oasl1 T C 5: 115,075,115 (GRCm39) S392P probably damaging Het
Or2ag17 A G 7: 106,389,911 (GRCm39) L99P probably damaging Het
Or3a1c A G 11: 74,046,099 (GRCm39) T40A probably benign Het
Or4c117 A G 2: 88,955,892 (GRCm39) F61S probably damaging Het
Or4c120 A T 2: 89,001,433 (GRCm39) M41K possibly damaging Het
Or4c58 T C 2: 89,674,457 (GRCm39) T287A probably benign Het
Or5m8 A T 2: 85,822,583 (GRCm39) T141S probably benign Het
Pate3 T G 9: 35,557,402 (GRCm39) T85P probably benign Het
Piezo2 T C 18: 63,174,791 (GRCm39) N1988D probably damaging Het
Plcxd3 T A 15: 4,546,272 (GRCm39) I92N probably damaging Het
Ptprd T A 4: 75,968,654 (GRCm39) R213* probably null Het
Skic3 T A 13: 76,303,766 (GRCm39) probably benign Het
Slit1 T C 19: 41,717,524 (GRCm39) D80G probably damaging Het
Sorcs1 A G 19: 50,230,531 (GRCm39) V472A probably damaging Het
Trp63 T A 16: 25,707,760 (GRCm39) D485E probably damaging Het
Tsr1 T C 11: 74,791,297 (GRCm39) V292A probably benign Het
Ush2a G T 1: 188,198,390 (GRCm39) A1485S probably benign Het
Vmn1r49 T A 6: 90,049,650 (GRCm39) R117S probably damaging Het
Vmn2r97 C A 17: 19,149,668 (GRCm39) P352H probably benign Het
Zxdc C T 6: 90,350,785 (GRCm39) T412I probably damaging Het
Other mutations in Mtnr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Mtnr1a APN 8 45,522,419 (GRCm39) missense probably damaging 0.97
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
R9119:Mtnr1a UTSW 8 45,541,003 (GRCm39) missense probably benign
R9454:Mtnr1a UTSW 8 45,538,612 (GRCm39) missense
Posted On 2016-08-02