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 Mt2, Mel1b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01548
Quality Score
Status
Chromosome 9
Chromosomal Location 15824528-15874556 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15863200 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
4930402H24Rik T C 2: 130,814,259 N110D probably damaging Het
Acot3 C T 12: 84,057,089 T224I probably benign Het
Adamts18 C T 8: 113,764,299 G512E probably damaging Het
Atp4b A G 8: 13,389,679 I181T probably damaging Het
Bcl11a A G 11: 24,163,346 I230V probably benign Het
Cenpj C A 14: 56,532,319 V1138L probably benign Het
Cep78 A G 19: 15,981,200 probably benign Het
Clec2j T A 6: 128,655,978 noncoding transcript Het
Col5a3 T C 9: 20,803,000 probably benign Het
Cpne6 A T 14: 55,512,726 T105S probably damaging Het
Csmd1 A T 8: 16,288,646 Y482* probably null Het
Ctrl C A 8: 105,933,258 probably benign Het
Dhcr24 T A 4: 106,573,871 C252* probably null Het
Dnah17 G A 11: 118,098,612 P1261S probably benign Het
Dnaic2 T C 11: 114,752,942 L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 S191A probably damaging Het
Fam205c T C 4: 42,868,564 E353G probably benign Het
Fat4 G A 3: 39,009,257 C4454Y probably damaging Het
Fat4 T C 3: 38,887,758 S267P probably damaging Het
Frrs1 T C 3: 116,885,185 C219R probably damaging Het
Gabra6 T A 11: 42,317,023 Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 C242* probably null Het
Gm2840 G A 5: 96,174,277 noncoding transcript Het
Gm6614 A G 6: 141,992,512 I227T possibly damaging Het
Gm8765 A G 13: 50,700,378 T91A probably benign Het
Gmcl1p1 G A X: 3,078,226 G423S probably benign Het
Golim4 C T 3: 75,908,125 probably null Het
Gucy1b1 G T 3: 82,034,862 T530K probably damaging Het
Hacl1 A T 14: 31,640,596 D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 T4276A possibly damaging Het
Henmt1 T C 3: 108,942,779 I26T probably damaging Het
Hspa1l G A 17: 34,978,391 A469T probably damaging Het
Htra3 T A 5: 35,664,076 probably null Het
Lrrc28 C A 7: 67,628,294 probably null Het
Mfhas1 T C 8: 35,590,459 L696P probably damaging Het
Mios A G 6: 8,234,252 K808E possibly damaging Het
Myom1 A G 17: 71,101,220 probably benign Het
Naca A T 10: 128,040,904 probably benign Het
Nckap1l T A 15: 103,462,720 V213D probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Olfr1000 A G 2: 85,608,761 W50R probably benign Het
Olfr1055 T A 2: 86,347,733 Y11F possibly damaging Het
Olfr1260 T A 2: 89,978,539 F254I possibly damaging Het
Olfr1465 A G 19: 13,313,986 F100L possibly damaging Het
Olfr923 A G 9: 38,828,350 T220A probably benign Het
Osbpl1a T C 18: 12,763,575 Y311C probably damaging Het
Parp11 A C 6: 127,491,599 Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 probably null Het
Plec T C 15: 76,189,258 R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 Y375N probably benign Het
Prss35 C A 9: 86,755,274 S32R probably benign Het
Prss57 C T 10: 79,785,747 probably benign Het
Ptprc A C 1: 138,099,481 probably null Het
Rims1 A G 1: 22,538,602 C188R probably damaging Het
Ripk4 G T 16: 97,751,496 Y144* probably null Het
Rpgrip1 A T 14: 52,126,271 probably benign Het
Rps6ka4 A G 19: 6,832,323 V378A probably benign Het
Rtf1 A G 2: 119,712,108 K298E probably benign Het
Sdk1 T C 5: 142,085,765 F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 K543E probably benign Het
Sorcs3 A T 19: 48,794,168 I1041F possibly damaging Het
Taok3 T C 5: 117,272,197 M818T probably benign Het
Tas2r119 T A 15: 32,177,977 F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 D716G probably damaging Het
Tfg A G 16: 56,701,102 S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 I45V probably damaging Het
Tle1 A G 4: 72,170,718 L96P probably damaging Het
Tmem260 A C 14: 48,480,325 S276R possibly damaging Het
Utp20 A G 10: 88,764,781 S24P probably damaging Het
Vcam1 T C 3: 116,115,951 I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 I822V probably benign Het
Wdr6 C T 9: 108,574,897 V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 K132N possibly damaging Het
Other mutations in Mtnr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Mtnr1b APN 9 15863293 missense probably benign 0.01
IGL02054:Mtnr1b APN 9 15874240 missense possibly damaging 0.93
IGL02147:Mtnr1b APN 9 15863376 missense probably damaging 0.96
IGL02620:Mtnr1b APN 9 15874321 missense possibly damaging 0.47
IGL03046:Mtnr1b UTSW 9 15862763 missense probably benign 0.00
R0362:Mtnr1b UTSW 9 15874304 missense probably damaging 1.00
R0784:Mtnr1b UTSW 9 15862785 missense probably benign 0.17
R1323:Mtnr1b UTSW 9 15863136 missense probably damaging 1.00
R1323:Mtnr1b UTSW 9 15863136 missense probably damaging 1.00
R1572:Mtnr1b UTSW 9 15863142 missense probably damaging 0.99
R1600:Mtnr1b UTSW 9 15863319 missense probably damaging 0.99
R2880:Mtnr1b UTSW 9 15862806 missense probably damaging 1.00
R2932:Mtnr1b UTSW 9 15874324 missense probably damaging 0.97
R4033:Mtnr1b UTSW 9 15863534 missense probably damaging 1.00
R5532:Mtnr1b UTSW 9 15862914 missense probably benign
R5765:Mtnr1b UTSW 9 15863163 missense probably damaging 1.00
R5775:Mtnr1b UTSW 9 15862872 missense possibly damaging 0.73
R5893:Mtnr1b UTSW 9 15863244 missense probably damaging 0.98
R6025:Mtnr1b UTSW 9 15862797 missense probably damaging 1.00
R6247:Mtnr1b UTSW 9 15862786 missense probably benign
R6349:Mtnr1b UTSW 9 15863213 nonsense probably null
R6364:Mtnr1b UTSW 9 15863004 missense possibly damaging 0.63
R7485:Mtnr1b UTSW 9 15863294 nonsense probably null
R8114:Mtnr1b UTSW 9 15874267 missense probably damaging 0.98
R8707:Mtnr1b UTSW 9 15874513 start gained probably benign
R8750:Mtnr1b UTSW 9 15874428 nonsense probably null
R9405:Mtnr1b UTSW 9 15863151 missense possibly damaging 0.63
R9442:Mtnr1b UTSW 9 15874364 missense probably benign
Posted On 2013-12-09