Incidental Mutation 'R2210:Mc4r'
| ID |
239337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mc4r
|
| Ensembl Gene |
ENSMUSG00000047259 |
| Gene Name |
melanocortin 4 receptor |
| Synonyms |
Pkcp, Fatboy |
| MMRRC Submission |
040212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R2210 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
66990776-66993558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66992466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 216
(F216I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057942]
|
| AlphaFold |
P56450 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057942
AA Change: F216I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: F216I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
| Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
| Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
| Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
| Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
| Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
| Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
| Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
| Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
| Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably damaging |
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 |
|
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 |
|
|
R4322:Mc4r
|
UTSW |
18 |
66,992,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ACGCAGTATGGATTCTGAGGG -3'
(R):5'- GCGGTGGACAGGTATTTCAC -3'
Sequencing Primer
(F):5'- TTCTGAGGGCAAGAGATGTAGAAC -3'
(R):5'- TTTACGCGCTCCAGTACCATAAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation