Incidental Mutation 'IGL02054:Mtnr1b'
ID |
185157 |
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)
|
Stock # |
IGL02054
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15773910-15785852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 15785536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 74
(A74E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057920]
[ENSMUST00000182947]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057920
AA Change: A74E
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000053086 Gene: ENSMUSG00000050901 AA Change: A74E
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000182947
AA Change: A74E
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138524 Gene: ENSMUSG00000050901 AA Change: A74E
Domain | Start | End | E-Value | Type |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
Camkk1 |
G |
A |
11: 72,916,708 (GRCm39) |
R102Q |
probably damaging |
Het |
Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
Irak3 |
T |
A |
10: 120,012,164 (GRCm39) |
Q200L |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
Luc7l |
T |
A |
17: 26,498,314 (GRCm39) |
|
probably benign |
Het |
Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
Nat1 |
T |
C |
8: 67,944,074 (GRCm39) |
F153S |
probably damaging |
Het |
Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
Pkm |
C |
A |
9: 59,585,484 (GRCm39) |
R489S |
probably damaging |
Het |
Pth2r |
T |
A |
1: 65,375,940 (GRCm39) |
I66N |
probably damaging |
Het |
Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mtnr1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Mtnr1b
|
APN |
9 |
15,774,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02041:Mtnr1b
|
APN |
9 |
15,774,589 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2014-05-07 |