Incidental Mutation 'IGL02147:Mtnr1b'
| ID |
281827 |
| 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 # |
IGL02147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
15773910-15785852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15774672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 129
(F129S)
|
| 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: F129S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053086
Gene: ENSMUSG00000050901
AA Change: F129S
| 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 |
probably damaging
Transcript: ENSMUST00000182947
AA Change: F129S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138524
Gene: ENSMUSG00000050901
AA Change: F129S
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
C |
19: 24,042,327 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
T |
A |
7: 131,027,610 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,598,064 (GRCm39) |
H75R |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,097,822 (GRCm39) |
I931F |
probably damaging |
Het |
| Cdk5 |
T |
C |
5: 24,625,318 (GRCm39) |
N165D |
probably benign |
Het |
| Col4a2 |
A |
T |
8: 11,458,140 (GRCm39) |
Y272F |
probably benign |
Het |
| Csde1 |
T |
A |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,937,928 (GRCm39) |
H724R |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,752 (GRCm39) |
D777G |
possibly damaging |
Het |
| Fat3 |
A |
C |
9: 15,907,281 (GRCm39) |
V2907G |
probably damaging |
Het |
| Fst |
T |
C |
13: 114,590,896 (GRCm39) |
Y290C |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,011 (GRCm39) |
*336R |
probably null |
Het |
| Igkv4-92 |
C |
T |
6: 68,732,236 (GRCm39) |
S46N |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Lgalsl2 |
T |
A |
7: 5,362,732 (GRCm39) |
I121N |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,093,754 (GRCm39) |
M244V |
possibly damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,558,379 (GRCm39) |
F211S |
probably benign |
Het |
| Mib2 |
C |
A |
4: 155,742,144 (GRCm39) |
R209L |
probably benign |
Het |
| Msx3 |
C |
A |
7: 139,628,798 (GRCm39) |
V39L |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,696 (GRCm39) |
S266G |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,534,285 (GRCm39) |
L703F |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,877 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or5t5 |
A |
G |
2: 86,616,494 (GRCm39) |
N140S |
probably benign |
Het |
| Pcyt1a |
T |
A |
16: 32,280,916 (GRCm39) |
N105K |
probably damaging |
Het |
| Pdhx |
A |
G |
2: 102,860,686 (GRCm39) |
|
probably benign |
Het |
| Qpct |
T |
C |
17: 79,378,145 (GRCm39) |
V105A |
probably damaging |
Het |
| Ros1 |
A |
C |
10: 51,996,991 (GRCm39) |
F1227C |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,874,620 (GRCm39) |
V342E |
probably damaging |
Het |
| Sart3 |
A |
G |
5: 113,901,004 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,816,281 (GRCm39) |
K366M |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,999 (GRCm39) |
N175D |
probably damaging |
Het |
| Sox14 |
T |
C |
9: 99,757,598 (GRCm39) |
K47R |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,153,132 (GRCm39) |
I592F |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,596,900 (GRCm39) |
M3880T |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,896,413 (GRCm39) |
F172S |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,305,782 (GRCm39) |
|
probably benign |
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 |
|
IGL02054:Mtnr1b
|
APN |
9 |
15,785,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2015-04-16 |
Incidental Mutation