Incidental Mutation 'R2374:Mc3r'
| ID |
248222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mc3r
|
| Ensembl Gene |
ENSMUSG00000038537 |
| Gene Name |
melanocortin 3 receptor |
| Synonyms |
|
| MMRRC Submission |
040353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R2374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172090412-172093034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 172091074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 99
(A99T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038532]
|
| AlphaFold |
P33033 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038532
AA Change: A99T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: A99T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
45 |
198 |
3.2e-12 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
49 |
314 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
55 |
299 |
5.4e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.0890 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.7%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis and adaptation to food restriction. Disruption of this gene results in an increased ratio of weight gain to food intake, increased fat mass, and decreased lean mass, without having a large effect on insulin sensitivity or glucose metabolism. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele exhibit obesity, increased respiratory quotient on a high fat diet, and reduced energy expenditure. Homozygotes for another null allele show reduced lean mass, increased fat mass, diet-induced obesity, increased insulin and leptin levels, and reduced energy expenditure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
C |
T |
18: 80,174,202 (GRCm39) |
R69Q |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,939,545 (GRCm39) |
D133G |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Clec4b1 |
T |
G |
6: 123,027,597 (GRCm39) |
L18R |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,043,288 (GRCm39) |
V706I |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,632 (GRCm39) |
L294P |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,662,494 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,074,711 (GRCm39) |
L504P |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,013 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,764 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,291,780 (GRCm39) |
N3424S |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,395,515 (GRCm39) |
V539I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Ly6e |
A |
G |
15: 74,830,470 (GRCm39) |
S107G |
probably damaging |
Het |
| Myo15a |
T |
G |
11: 60,369,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,153,669 (GRCm39) |
W2419R |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,900 (GRCm39) |
T560S |
possibly damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,958 (GRCm39) |
M274T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,795 (GRCm39) |
S41R |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,411 (GRCm39) |
L697P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,059,517 (GRCm39) |
Y2443H |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,845 (GRCm39) |
I393T |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,825,614 (GRCm39) |
L155Q |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,492,422 (GRCm39) |
M816K |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,050 (GRCm39) |
D398G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,543 (GRCm39) |
S249T |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,575,104 (GRCm39) |
P137Q |
probably benign |
Het |
| Zbtb26 |
A |
G |
2: 37,326,497 (GRCm39) |
S180P |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,391 (GRCm39) |
L458Q |
probably damaging |
Het |
| Zfy1 |
G |
C |
Y: 726,392 (GRCm39) |
L458V |
possibly damaging |
Het |
| Zmpste24 |
T |
C |
4: 120,931,734 (GRCm39) |
E297G |
probably benign |
Het |
|
| Other mutations in Mc3r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Mc3r
|
APN |
2 |
172,090,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01618:Mc3r
|
APN |
2 |
172,091,290 (GRCm39) |
missense |
probably benign |
|
|
IGL01784:Mc3r
|
APN |
2 |
172,091,290 (GRCm39) |
missense |
probably benign |
|
|
IGL01865:Mc3r
|
APN |
2 |
172,090,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Mc3r
|
APN |
2 |
172,091,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Mc3r
|
APN |
2 |
172,091,716 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03266:Mc3r
|
APN |
2 |
172,091,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0882:Mc3r
|
UTSW |
2 |
172,091,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1005:Mc3r
|
UTSW |
2 |
172,091,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1501:Mc3r
|
UTSW |
2 |
172,091,300 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3437:Mc3r
|
UTSW |
2 |
172,091,588 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3813:Mc3r
|
UTSW |
2 |
172,090,799 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3936:Mc3r
|
UTSW |
2 |
172,091,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4225:Mc3r
|
UTSW |
2 |
172,090,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Mc3r
|
UTSW |
2 |
172,091,123 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5074:Mc3r
|
UTSW |
2 |
172,091,533 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5277:Mc3r
|
UTSW |
2 |
172,091,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Mc3r
|
UTSW |
2 |
172,091,610 (GRCm39) |
nonsense |
probably null |
|
|
R5832:Mc3r
|
UTSW |
2 |
172,091,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5865:Mc3r
|
UTSW |
2 |
172,091,592 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5881:Mc3r
|
UTSW |
2 |
172,091,092 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5905:Mc3r
|
UTSW |
2 |
172,091,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Mc3r
|
UTSW |
2 |
172,091,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Mc3r
|
UTSW |
2 |
172,091,074 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7037:Mc3r
|
UTSW |
2 |
172,091,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Mc3r
|
UTSW |
2 |
172,091,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Mc3r
|
UTSW |
2 |
172,091,515 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9648:Mc3r
|
UTSW |
2 |
172,091,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mc3r
|
UTSW |
2 |
172,091,736 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCAGGTCTTCATCAAGC -3'
(R):5'- AGATGACCCCGATCAAGGTGAG -3'
Sequencing Primer
(F):5'- AGGTCTTCATCAAGCCGGAG -3'
(R):5'- CCGATCAAGGTGAGGGCTTTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation