Incidental Mutation 'R3947:Mtnr1a'
ID |
307754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtnr1a
|
Ensembl Gene |
ENSMUSG00000054764 |
Gene Name |
melatonin receptor 1A |
Synonyms |
Mel1a receptor, MelR |
MMRRC Submission |
040927-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3947 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
45522174-45541543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45540557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 173
(Y173H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067984]
|
AlphaFold |
Q61184 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067984
AA Change: Y173H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069872 Gene: ENSMUSG00000054764 AA Change: Y173H
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
|
Meta Mutation Damage Score |
0.5528 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (32/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
A |
14: 54,916,790 (GRCm39) |
Q133L |
possibly damaging |
Het |
Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
C87436 |
T |
A |
6: 86,423,168 (GRCm39) |
H247Q |
probably damaging |
Het |
Cfap43 |
G |
T |
19: 47,754,418 (GRCm39) |
H969N |
probably benign |
Het |
Chst15 |
T |
A |
7: 131,849,604 (GRCm39) |
N446Y |
probably damaging |
Het |
Col4a3 |
T |
A |
1: 82,693,053 (GRCm39) |
I1446N |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
Fnbp1l |
G |
T |
3: 122,338,228 (GRCm39) |
A481D |
possibly damaging |
Het |
Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 118,989,730 (GRCm39) |
|
probably benign |
Het |
Grk2 |
G |
A |
19: 4,342,445 (GRCm39) |
T129M |
possibly damaging |
Het |
Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,274,213 (GRCm39) |
R6388G |
probably damaging |
Het |
Myo5b |
C |
T |
18: 74,828,474 (GRCm39) |
R709W |
probably damaging |
Het |
Nebl |
A |
T |
2: 17,382,917 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2g1 |
A |
T |
17: 38,107,006 (GRCm39) |
I224L |
probably benign |
Het |
Pex11g |
G |
A |
8: 3,515,787 (GRCm39) |
T82I |
probably benign |
Het |
Pgr |
A |
G |
9: 8,961,453 (GRCm39) |
I842V |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
Rbm20 |
T |
C |
19: 53,801,768 (GRCm39) |
I92T |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Suclg2 |
G |
T |
6: 95,556,219 (GRCm39) |
|
probably null |
Het |
Tdrd3 |
A |
T |
14: 87,744,035 (GRCm39) |
D655V |
probably damaging |
Het |
Tex2 |
C |
T |
11: 106,410,829 (GRCm39) |
D896N |
unknown |
Het |
Tmem168 |
C |
A |
6: 13,583,051 (GRCm39) |
R610L |
probably damaging |
Het |
Ttc17 |
A |
G |
2: 94,206,491 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,017,902 (GRCm39) |
E2546G |
probably 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 |
R0856:Mtnr1a
|
UTSW |
8 |
45,540,870 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
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'- CGCATTTCTAATGGGCTTGAG -3'
(R):5'- ACAAAGTTCCTGAAGTCCTGGG -3'
Sequencing Primer
(F):5'- GAGTGTCATCGGCTCGATATTCAAC -3'
(R):5'- CTGAAGTCCTGGGGCTTCAG -3'
|
Posted On |
2015-04-17 |