Incidental Mutation 'R1085:Mc2r'
| ID |
85003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mc2r
|
| Ensembl Gene |
ENSMUSG00000045569 |
| Gene Name |
melanocortin 2 receptor |
| Synonyms |
adrenocorticotropic hormone receptor, Acthr |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
68539978-68562391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68540417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 292
(F292S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052347]
|
| AlphaFold |
Q64326 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052347
AA Change: F292S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: F292S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
291 |
2.4e-13 |
PFAM |
|
Pfam:7tm_1
|
41 |
276 |
1.1e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality due to impaired gluconeogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Mc2r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01654:Mc2r
|
APN |
18 |
68,541,143 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01866:Mc2r
|
APN |
18 |
68,540,494 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02002:Mc2r
|
APN |
18 |
68,540,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4366001:Mc2r
|
UTSW |
18 |
68,540,826 (GRCm39) |
missense |
probably benign |
|
|
R0276:Mc2r
|
UTSW |
18 |
68,541,203 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1061:Mc2r
|
UTSW |
18 |
68,540,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Mc2r
|
UTSW |
18 |
68,540,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Mc2r
|
UTSW |
18 |
68,541,090 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1930:Mc2r
|
UTSW |
18 |
68,540,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2184:Mc2r
|
UTSW |
18 |
68,541,196 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2397:Mc2r
|
UTSW |
18 |
68,541,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Mc2r
|
UTSW |
18 |
68,540,411 (GRCm39) |
missense |
probably benign |
|
|
R5087:Mc2r
|
UTSW |
18 |
68,541,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5506:Mc2r
|
UTSW |
18 |
68,541,019 (GRCm39) |
nonsense |
probably null |
|
|
R5781:Mc2r
|
UTSW |
18 |
68,540,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Mc2r
|
UTSW |
18 |
68,540,466 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6364:Mc2r
|
UTSW |
18 |
68,540,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Mc2r
|
UTSW |
18 |
68,541,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8679:Mc2r
|
UTSW |
18 |
68,540,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Mc2r
|
UTSW |
18 |
68,540,667 (GRCm39) |
missense |
probably benign |
|
|
R9307:Mc2r
|
UTSW |
18 |
68,540,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9355:Mc2r
|
UTSW |
18 |
68,541,195 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Mc2r
|
UTSW |
18 |
68,540,783 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTCCCAATGACAGTTTTCACAG -3'
(R):5'- GGTGCCATGACACTAACCATCCTTC -3'
Sequencing Primer
(F):5'- GACAGTTTTCACAGGTATCCACAG -3'
(R):5'- GACACTAACCATCCTTCTTGGAGTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation