Incidental Mutation 'R1600:Mtnr1b'
| ID |
176097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtnr1b
|
| Ensembl Gene |
ENSMUSG00000050901 |
| Gene Name |
melatonin receptor 1B |
| Synonyms |
Mel1b, Mt2 |
| MMRRC Submission |
039637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1600 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
15773910-15785852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15774615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 148
(Y148C)
|
| 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: Y148C
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053086
Gene: ENSMUSG00000050901
AA Change: Y148C
| 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: Y148C
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138524
Gene: ENSMUSG00000050901
AA Change: Y148C
| 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 |
|
| Meta Mutation Damage Score |
0.6929 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
85% (41/48) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,881,174 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
C |
T |
12: 84,105,484 (GRCm39) |
A317V |
probably benign |
Het |
| Ahrr |
T |
C |
13: 74,362,497 (GRCm39) |
D334G |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,511,108 (GRCm39) |
V30M |
probably damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,021,158 (GRCm39) |
H281N |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,521,662 (GRCm39) |
M175T |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,484,295 (GRCm39) |
|
probably benign |
Het |
| Ccnj |
A |
T |
19: 40,833,101 (GRCm39) |
|
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,655,274 (GRCm39) |
S816P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,173,954 (GRCm39) |
R64G |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,748 (GRCm39) |
C126* |
probably null |
Het |
| Ercc2 |
T |
C |
7: 19,119,866 (GRCm39) |
Y176H |
probably benign |
Het |
| Frem2 |
T |
G |
3: 53,455,144 (GRCm39) |
D2144A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,384,822 (GRCm39) |
Y246* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,303,708 (GRCm39) |
|
probably null |
Het |
| Grk1 |
A |
G |
8: 13,455,406 (GRCm39) |
T97A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,320,799 (GRCm39) |
E4004G |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,339,821 (GRCm39) |
R46S |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,389 (GRCm39) |
S265P |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,452,902 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,272,479 (GRCm39) |
Y659C |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,179,393 (GRCm39) |
N299K |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,846,611 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,161,616 (GRCm39) |
Y2059H |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,528 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,757,080 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,537 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,842,450 (GRCm39) |
T458A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,041,430 (GRCm39) |
V448I |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,970,136 (GRCm39) |
G251D |
possibly damaging |
Het |
| Tcstv7b |
T |
C |
13: 120,702,369 (GRCm39) |
V55A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,808,958 (GRCm39) |
Q711* |
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,116,519 (GRCm39) |
R13G |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,085,247 (GRCm39) |
A628S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,636 (GRCm39) |
N2080S |
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,221,015 (GRCm39) |
I221N |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,175,355 (GRCm39) |
W47R |
possibly damaging |
Het |
| Zswim9 |
A |
G |
7: 13,003,497 (GRCm39) |
C118R |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGATTCGCAGGTAGCAGAAG -3'
(R):5'- TGGTGATAGCCTTGTACCCTTACCC -3'
Sequencing Primer
(F):5'- CAGGTAGCAGAAGGACACCAC -3'
(R):5'- ACCCACTGATCCTTGTGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation