Incidental Mutation 'R0856:Mtnr1a'
| ID |
82722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtnr1a
|
| Ensembl Gene |
ENSMUSG00000054764 |
| Gene Name |
melatonin receptor 1A |
| Synonyms |
Mel1a receptor, MelR |
| MMRRC Submission |
039035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45522174-45541543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45540870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 277
(E277G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067984]
|
| AlphaFold |
Q61184 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067984
AA Change: E277G
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069872
Gene: ENSMUSG00000054764
AA Change: E277G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
26 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
38 |
315 |
1.8e-11 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
313 |
2.5e-10 |
PFAM |
|
Pfam:7tm_1
|
47 |
298 |
5.6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130141
|
| SMART Domains |
Protein: ENSMUSP00000115764
Gene: ENSMUSG00000054764
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
23 |
92 |
6e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209488
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.6%
|
| 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 receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal, with normal circadian functions. In vitro studies report the absence of inhibitory effects of melatonin on suprachiasma neuronal firing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,154,262 (GRCm39) |
S101R |
probably benign |
Het |
| Arhgap32 |
C |
A |
9: 32,171,516 (GRCm39) |
P1432Q |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,487,647 (GRCm39) |
V1134A |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,245,372 (GRCm39) |
Y418N |
probably damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Defb39 |
T |
A |
8: 19,102,982 (GRCm39) |
T38S |
possibly damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Kcnip4 |
A |
G |
5: 48,576,552 (GRCm39) |
|
probably null |
Het |
| Kif20a |
T |
C |
18: 34,764,271 (GRCm39) |
S666P |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,385,888 (GRCm39) |
Y133C |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,648,155 (GRCm39) |
Q629K |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,345 (GRCm39) |
S118P |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Prr35 |
T |
C |
17: 26,167,001 (GRCm39) |
S179G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Upf2 |
A |
G |
2: 5,962,463 (GRCm39) |
D55G |
unknown |
Het |
| Vit |
G |
T |
17: 78,927,086 (GRCm39) |
V344L |
possibly damaging |
Het |
| Vps26a |
A |
C |
10: 62,304,189 (GRCm39) |
V176G |
possibly damaging |
Het |
|
| Other mutations in Mtnr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02965:Mtnr1a
|
APN |
8 |
45,522,419 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03230:Mtnr1a
|
APN |
8 |
45,540,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Mtnr1a
|
UTSW |
8 |
45,522,352 (GRCm39) |
missense |
probably benign |
|
|
R0744:Mtnr1a
|
UTSW |
8 |
45,540,974 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0833:Mtnr1a
|
UTSW |
8 |
45,540,974 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0836:Mtnr1a
|
UTSW |
8 |
45,540,974 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1445:Mtnr1a
|
UTSW |
8 |
45,540,782 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1983:Mtnr1a
|
UTSW |
8 |
45,540,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2444:Mtnr1a
|
UTSW |
8 |
45,540,695 (GRCm39) |
nonsense |
probably null |
|
|
R2884:Mtnr1a
|
UTSW |
8 |
45,540,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3947:Mtnr1a
|
UTSW |
8 |
45,540,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Mtnr1a
|
UTSW |
8 |
45,538,652 (GRCm39) |
intron |
probably benign |
|
|
R5681:Mtnr1a
|
UTSW |
8 |
45,540,974 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7908:Mtnr1a
|
UTSW |
8 |
45,540,863 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8742:Mtnr1a
|
UTSW |
8 |
45,540,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8748:Mtnr1a
|
UTSW |
8 |
45,538,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9119:Mtnr1a
|
UTSW |
8 |
45,541,003 (GRCm39) |
missense |
probably benign |
|
|
R9454:Mtnr1a
|
UTSW |
8 |
45,538,612 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCGTACACGATAGCAGTGGTG -3'
(R):5'- GGCAGACAGGAGATCCTTTCCAAC -3'
Sequencing Primer
(F):5'- CATCTTCTGCTACTTAAGGATATGGG -3'
(R):5'- ACCCTGAAGAGCTTCAAGTTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation