Incidental Mutation 'IGL01548:Mtnr1b'
ID 93229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtnr1b
Ensembl Gene ENSMUSG00000050901
Gene Name melatonin receptor 1B
Synonyms Mel1b, Mt2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01548
Quality Score
Chromosome 9
Chromosomal Location 15773910-15785852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15774496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 188 (Y188H)
Ref Sequence ENSEMBL: ENSMUSP00000138524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057920] [ENSMUST00000182947]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057920
AA Change: Y188H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053086
Gene: ENSMUSG00000050901
AA Change: Y188H

Pfam:7TM_GPCR_Srx 48 254 3.7e-11 PFAM
Pfam:7TM_GPCR_Srsx 51 323 2.6e-12 PFAM
Pfam:7tm_1 57 308 3.4e-47 PFAM
Pfam:7TM_GPCR_Srv 59 317 1.1e-7 PFAM
low complexity region 348 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000182947
AA Change: Y188H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138524
Gene: ENSMUSG00000050901
AA Change: Y188H

Pfam:7TM_GPCR_Srx 48 264 1.8e-10 PFAM
Pfam:7TM_GPCR_Srsx 51 323 2.6e-12 PFAM
Pfam:7tm_1 57 308 1.4e-50 PFAM
Pfam:7TM_GPCR_Srv 59 319 7.5e-8 PFAM
low complexity region 348 359 N/A INTRINSIC
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 gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no obvious circadian phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,103,863 (GRCm39) T224I probably benign Het
Adamts18 C T 8: 114,490,931 (GRCm39) G512E probably damaging Het
Atp4b A G 8: 13,439,679 (GRCm39) I181T probably damaging Het
Bcl11a A G 11: 24,113,346 (GRCm39) I230V probably benign Het
Cenpj C A 14: 56,769,776 (GRCm39) V1138L probably benign Het
Cep78 A G 19: 15,958,564 (GRCm39) probably benign Het
Clec2j T A 6: 128,632,941 (GRCm39) noncoding transcript Het
Col5a3 T C 9: 20,714,296 (GRCm39) probably benign Het
Cpne6 A T 14: 55,750,183 (GRCm39) T105S probably damaging Het
Csmd1 A T 8: 16,338,660 (GRCm39) Y482* probably null Het
Ctrl C A 8: 106,659,890 (GRCm39) probably benign Het
Dhcr24 T A 4: 106,431,068 (GRCm39) C252* probably null Het
Dnaaf9 T C 2: 130,656,179 (GRCm39) N110D probably damaging Het
Dnah17 G A 11: 117,989,438 (GRCm39) P1261S probably benign Het
Dnai2 T C 11: 114,643,768 (GRCm39) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm39) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,433,134 (GRCm39) S191A probably damaging Het
Fat4 G A 3: 39,063,406 (GRCm39) C4454Y probably damaging Het
Fat4 T C 3: 38,941,907 (GRCm39) S267P probably damaging Het
Frrs1 T C 3: 116,678,834 (GRCm39) C219R probably damaging Het
Gabra6 T A 11: 42,207,850 (GRCm39) Q207L probably damaging Het
Gm19668 A T 10: 77,634,242 (GRCm39) C242* probably null Het
Gm2840 G A 5: 96,322,136 (GRCm39) noncoding transcript Het
Gmcl1p1 G A X: 3,078,226 (GRCm39) G423S probably benign Het
Golim4 C T 3: 75,815,432 (GRCm39) probably null Het
Gucy1b1 G T 3: 81,942,169 (GRCm39) T530K probably damaging Het
Hacl1 A T 14: 31,362,553 (GRCm39) D31E possibly damaging Het
Hectd4 A G 5: 121,502,723 (GRCm39) T4276A possibly damaging Het
Henmt1 T C 3: 108,850,095 (GRCm39) I26T probably damaging Het
Hspa1l G A 17: 35,197,367 (GRCm39) A469T probably damaging Het
Htra3 T A 5: 35,821,420 (GRCm39) probably null Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Mfhas1 T C 8: 36,057,613 (GRCm39) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm39) K808E possibly damaging Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Naca A T 10: 127,876,773 (GRCm39) probably benign Het
Nckap1l T A 15: 103,371,147 (GRCm39) V213D probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Or4c35 T A 2: 89,808,883 (GRCm39) F254I possibly damaging Het
Or5b111 A G 19: 13,291,350 (GRCm39) F100L possibly damaging Het
Or5g23 A G 2: 85,439,105 (GRCm39) W50R probably benign Het
Or8b56 A G 9: 38,739,646 (GRCm39) T220A probably benign Het
Or8k53 T A 2: 86,178,077 (GRCm39) Y11F possibly damaging Het
Osbpl1a T C 18: 12,896,632 (GRCm39) Y311C probably damaging Het
Parp11 A C 6: 127,468,562 (GRCm39) Y204S probably damaging Het
Pla2g4a A G 1: 149,808,407 (GRCm39) probably null Het
Plec T C 15: 76,073,458 (GRCm39) R519G probably benign Het
Ppp2r5c T A 12: 110,534,261 (GRCm39) Y375N probably benign Het
Prss35 C A 9: 86,637,327 (GRCm39) S32R probably benign Het
Prss57 C T 10: 79,621,581 (GRCm39) probably benign Het
Ptprc A C 1: 138,027,219 (GRCm39) probably null Het
Rims1 A G 1: 22,577,683 (GRCm39) C188R probably damaging Het
Ripk4 G T 16: 97,552,696 (GRCm39) Y144* probably null Het
Rpgrip1 A T 14: 52,363,728 (GRCm39) probably benign Het
Rps6ka4 A G 19: 6,809,691 (GRCm39) V378A probably benign Het
Rtf1 A G 2: 119,542,589 (GRCm39) K298E probably benign Het
Sdk1 T C 5: 142,071,520 (GRCm39) F1237L possibly damaging Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slco1a8 A G 6: 141,938,238 (GRCm39) I227T possibly damaging Het
Sorcs3 A T 19: 48,782,607 (GRCm39) I1041F possibly damaging Het
Spata31e4 A G 13: 50,854,414 (GRCm39) T91A probably benign Het
Spata31f3 T C 4: 42,868,564 (GRCm39) E353G probably benign Het
Taok3 T C 5: 117,410,262 (GRCm39) M818T probably benign Het
Tas2r119 T A 15: 32,178,123 (GRCm39) F230I probably damaging Het
Tbc1d8 T C 1: 39,420,385 (GRCm39) D716G probably damaging Het
Tfg A G 16: 56,521,465 (GRCm39) S58P probably damaging Het
Thnsl1 A G 2: 21,217,943 (GRCm39) I45V probably damaging Het
Tle1 A G 4: 72,088,955 (GRCm39) L96P probably damaging Het
Tmem260 A C 14: 48,717,782 (GRCm39) S276R possibly damaging Het
Utp20 A G 10: 88,600,643 (GRCm39) S24P probably damaging Het
Vcam1 T C 3: 115,909,600 (GRCm39) I576V probably benign Het
Vmn1r27 G T 6: 58,192,538 (GRCm39) N105K probably benign Het
Vmn2r12 A C 5: 109,240,893 (GRCm39) Y73* probably null Het
Vmn2r86 T C 10: 130,282,151 (GRCm39) I822V probably benign Het
Wdr6 C T 9: 108,452,096 (GRCm39) V596I possibly damaging Het
Zfp946 A T 17: 22,673,643 (GRCm39) K132N possibly damaging Het
Other mutations in Mtnr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Mtnr1b APN 9 15,774,589 (GRCm39) missense probably benign 0.01
IGL02054:Mtnr1b APN 9 15,785,536 (GRCm39) missense possibly damaging 0.93
IGL02147:Mtnr1b APN 9 15,774,672 (GRCm39) missense probably damaging 0.96
IGL02620:Mtnr1b APN 9 15,785,617 (GRCm39) missense possibly damaging 0.47
IGL03046:Mtnr1b UTSW 9 15,774,059 (GRCm39) missense probably benign 0.00
R0362:Mtnr1b UTSW 9 15,785,600 (GRCm39) missense probably damaging 1.00
R0784:Mtnr1b UTSW 9 15,774,081 (GRCm39) missense probably benign 0.17
R1323:Mtnr1b UTSW 9 15,774,432 (GRCm39) missense probably damaging 1.00
R1323:Mtnr1b UTSW 9 15,774,432 (GRCm39) missense probably damaging 1.00
R1572:Mtnr1b UTSW 9 15,774,438 (GRCm39) missense probably damaging 0.99
R1600:Mtnr1b UTSW 9 15,774,615 (GRCm39) missense probably damaging 0.99
R2880:Mtnr1b UTSW 9 15,774,102 (GRCm39) missense probably damaging 1.00
R2932:Mtnr1b UTSW 9 15,785,620 (GRCm39) missense probably damaging 0.97
R4033:Mtnr1b UTSW 9 15,774,830 (GRCm39) missense probably damaging 1.00
R5532:Mtnr1b UTSW 9 15,774,210 (GRCm39) missense probably benign
R5765:Mtnr1b UTSW 9 15,774,459 (GRCm39) missense probably damaging 1.00
R5775:Mtnr1b UTSW 9 15,774,168 (GRCm39) missense possibly damaging 0.73
R5893:Mtnr1b UTSW 9 15,774,540 (GRCm39) missense probably damaging 0.98
R6025:Mtnr1b UTSW 9 15,774,093 (GRCm39) missense probably damaging 1.00
R6247:Mtnr1b UTSW 9 15,774,082 (GRCm39) missense probably benign
R6349:Mtnr1b UTSW 9 15,774,509 (GRCm39) nonsense probably null
R6364:Mtnr1b UTSW 9 15,774,300 (GRCm39) missense possibly damaging 0.63
R7485:Mtnr1b UTSW 9 15,774,590 (GRCm39) nonsense probably null
R8114:Mtnr1b UTSW 9 15,785,563 (GRCm39) missense probably damaging 0.98
R8707:Mtnr1b UTSW 9 15,785,809 (GRCm39) start gained probably benign
R8750:Mtnr1b UTSW 9 15,785,724 (GRCm39) nonsense probably null
R9405:Mtnr1b UTSW 9 15,774,447 (GRCm39) missense possibly damaging 0.63
R9442:Mtnr1b UTSW 9 15,785,660 (GRCm39) missense probably benign
Posted On 2013-12-09