Incidental Mutation 'R2932:Mtnr1b'
| ID |
254974 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15773910-15785852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15785620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 46
(V46E)
|
| 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: V46E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053086
Gene: ENSMUSG00000050901
AA Change: V46E
| 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: V46E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138524
Gene: ENSMUSG00000050901
AA Change: V46E
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
| Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
| Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
| Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATGAATGTGACACCTGCC -3'
(R):5'- CCTTGTGCATCTATCCCAGG -3'
Sequencing Primer
(F):5'- TGAATGTGACACCTGCCACTGAG -3'
(R):5'- ATCTATCCCAGGCAGCGTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation