Incidental Mutation 'R6652:Mc1r'
| ID |
528095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mc1r
|
| Ensembl Gene |
ENSMUSG00000074037 |
| Gene Name |
melanocortin 1 receptor |
| Synonyms |
e, Mshra, extension recessive yellow, Mcr1 |
| MMRRC Submission |
044773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6652 (G1)
|
| Quality Score |
128.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124133846-124137483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124134370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 41
(G41D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071134]
[ENSMUST00000098324]
[ENSMUST00000108840]
[ENSMUST00000127664]
[ENSMUST00000211932]
[ENSMUST00000212470]
[ENSMUST00000212880]
[ENSMUST00000212743]
[ENSMUST00000212571]
|
| AlphaFold |
Q01727 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071134
|
| SMART Domains |
Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
8.63e-65 |
SMART |
|
Tubulin_C
|
246 |
383 |
1.35e-48 |
SMART |
|
low complexity region
|
427 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098324
AA Change: G41D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095929
Gene: ENSMUSG00000074037
AA Change: G41D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
43 |
188 |
1.3e-13 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
47 |
311 |
1e-7 |
PFAM |
|
Pfam:7tm_1
|
53 |
296 |
2.7e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108840
|
| SMART Domains |
Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
Pfam:Tcf25
|
247 |
588 |
2.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212470
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212571
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Targeted, knock-out(2) Spontaneous(6) Chemically induced(2)
Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity.
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
| Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,091,079 (GRCm39) |
Y211C |
probably damaging |
Het |
| Espnl |
A |
C |
1: 91,272,421 (GRCm39) |
I594L |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
| Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,723 (GRCm39) |
N297Y |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,560 (GRCm39) |
L337Q |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
| Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Spart |
G |
A |
3: 55,032,248 (GRCm39) |
E361K |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
| Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
| Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
| Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
| Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
| Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
probably damaging |
Het |
|
| Other mutations in Mc1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Mc1r
|
APN |
8 |
124,134,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Mc1r
|
APN |
8 |
124,134,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deer
|
UTSW |
8 |
124,134,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Mc1r
|
UTSW |
8 |
124,134,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Mc1r
|
UTSW |
8 |
124,134,275 (GRCm39) |
missense |
probably benign |
|
|
R2071:Mc1r
|
UTSW |
8 |
124,135,108 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4006:Mc1r
|
UTSW |
8 |
124,134,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4226:Mc1r
|
UTSW |
8 |
124,134,595 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4865:Mc1r
|
UTSW |
8 |
124,134,255 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6765:Mc1r
|
UTSW |
8 |
124,134,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7580:Mc1r
|
UTSW |
8 |
124,134,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Mc1r
|
UTSW |
8 |
124,135,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7982:Mc1r
|
UTSW |
8 |
124,134,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Mc1r
|
UTSW |
8 |
124,135,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGGGATGTCAGAGACC -3'
(R):5'- GCAGGATGATAGTAGTCTCCAG -3'
Sequencing Primer
(F):5'- GATGTCAGAGACCCCCGAC -3'
(R):5'- TGATAGTAGTCTCCAGCACGATGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation