Incidental Mutation 'R4322:Mc4r'
| ID |
323893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mc4r
|
| Ensembl Gene |
ENSMUSG00000047259 |
| Gene Name |
melanocortin 4 receptor |
| Synonyms |
Pkcp, Fatboy |
| MMRRC Submission |
041093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
66990776-66993558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66992121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 331
(R331G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057942]
|
| AlphaFold |
P56450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057942
AA Change: R331G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: R331G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
51 |
228 |
8.1e-11 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
55 |
317 |
6e-12 |
PFAM |
|
Pfam:7tm_1
|
61 |
302 |
2.7e-31 |
PFAM |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
94% (48/51) |
| 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. Disruption of this gene promotes hyperphagia and obesity, and is associated with increased cholesterol levels and insulin resistance. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mutations in this gene result in hyperglycemia and weight gain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
| Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
| Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
| Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
| Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
| Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
| Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
| Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
Het |
| Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mc4r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Mc4r
|
APN |
18 |
66,992,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01382:Mc4r
|
APN |
18 |
66,992,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01820:Mc4r
|
APN |
18 |
66,992,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02749:Mc4r
|
APN |
18 |
66,992,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Mc4r
|
APN |
18 |
66,992,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03403:Mc4r
|
APN |
18 |
66,992,597 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Big_boned
|
UTSW |
18 |
66,992,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Big_mac
|
UTSW |
18 |
66,992,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blubbery
|
UTSW |
18 |
66,992,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cetacean
|
UTSW |
18 |
66,992,251 (GRCm39) |
nonsense |
probably null |
|
|
chubby
|
UTSW |
18 |
66,992,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
halloween
|
UTSW |
18 |
66,992,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Leviathan
|
UTSW |
18 |
66,993,110 (GRCm39) |
start codon destroyed |
probably null |
0.49 |
|
southbeach
|
UTSW |
18 |
66,992,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Mc4r
|
UTSW |
18 |
66,992,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1623:Mc4r
|
UTSW |
18 |
66,993,068 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1666:Mc4r
|
UTSW |
18 |
66,992,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Mc4r
|
UTSW |
18 |
66,992,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Mc4r
|
UTSW |
18 |
66,992,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Mc4r
|
UTSW |
18 |
66,992,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Mc4r
|
UTSW |
18 |
66,992,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2210:Mc4r
|
UTSW |
18 |
66,992,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Mc4r
|
UTSW |
18 |
66,992,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3715:Mc4r
|
UTSW |
18 |
66,992,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4115:Mc4r
|
UTSW |
18 |
66,993,050 (GRCm39) |
missense |
probably benign |
|
|
R4492:Mc4r
|
UTSW |
18 |
66,992,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4806:Mc4r
|
UTSW |
18 |
66,992,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Mc4r
|
UTSW |
18 |
66,992,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6161:Mc4r
|
UTSW |
18 |
66,992,251 (GRCm39) |
nonsense |
probably null |
|
|
R6802:Mc4r
|
UTSW |
18 |
66,992,488 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6807:Mc4r
|
UTSW |
18 |
66,992,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6929:Mc4r
|
UTSW |
18 |
66,992,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Mc4r
|
UTSW |
18 |
66,992,580 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8292:Mc4r
|
UTSW |
18 |
66,993,082 (GRCm39) |
nonsense |
probably null |
|
|
R8560:Mc4r
|
UTSW |
18 |
66,992,166 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8897:Mc4r
|
UTSW |
18 |
66,992,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8943:Mc4r
|
UTSW |
18 |
66,993,110 (GRCm39) |
start codon destroyed |
probably null |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGTCAATTCATAACGCCCAC -3'
(R):5'- ATCCATACTGCGTGTGCTTC -3'
Sequencing Primer
(F):5'- GCGTGTCAATAAACATAACACGTTG -3'
(R):5'- ATACTGCGTGTGCTTCATGTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation