Mutagenetix > Incidental Mutation

Incidental Mutation 'R1871:Mc1r'

257989

Institutional Source

Beutler Lab

Gene Symbol

Mc1r

Ensembl Gene

ENSMUSG00000074037

Gene Name

melanocortin 1 receptor

Synonyms

e, Mshra, extension recessive yellow, Mcr1

MMRRC Submission

039893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1871 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124133846-124137483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124134275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 9 (S9R)

Ref Sequence

ENSEMBL: ENSMUSP00000095929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071134] [ENSMUST00000098324] [ENSMUST00000108840] [ENSMUST00000127664] [ENSMUST00000211932] [ENSMUST00000212470] [ENSMUST00000212571] [ENSMUST00000212880] [ENSMUST00000212743]

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 benign
Transcript: ENSMUST00000098324
AA Change: S9R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095929
Gene: ENSMUSG00000074037
AA Change: S9R

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: ENSMUST00000212571

Predicted Effect

probably benign
Transcript: ENSMUST00000212880

Predicted Effect

probably benign
Transcript: ENSMUST00000212743

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	G	10: 115,415,699 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abce1	G	A	8: 80,411,897 (GRCm39)	Q588*	probably null	Het
Acads	A	T	5: 115,255,701 (GRCm39)	C45S	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Ano4	T	A	10: 88,828,889 (GRCm39)	I517F	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Blk	A	T	14: 63,613,364 (GRCm39)	S381R	possibly damaging	Het
Capn15	C	A	17: 26,183,203 (GRCm39)	W426L	probably damaging	Het
Chd6	T	C	2: 160,832,176 (GRCm39)	T999A	probably damaging	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Crp	T	A	1: 172,526,172 (GRCm39)	W86R	possibly damaging	Het
Ctnnal1	G	A	4: 56,812,534 (GRCm39)	L705F	probably benign	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Cyp4f37	A	G	17: 32,853,639 (GRCm39)	D441G	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Eef1g	A	T	19: 8,955,330 (GRCm39)	D393V	possibly damaging	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Ephx2	A	T	14: 66,322,183 (GRCm39)	I538N	probably damaging	Het
Fat4	T	A	3: 39,035,221 (GRCm39)	S2958T	possibly damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Gm10287	G	T	3: 148,930,373 (GRCm39)		noncoding transcript	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr158	A	G	2: 21,820,426 (GRCm39)	D641G	probably damaging	Het
Heph	C	A	X: 95,542,690 (GRCm39)	S561Y	probably benign	Het
Hgfac	A	G	5: 35,200,257 (GRCm39)	*90W	probably null	Het
Hp1bp3	C	G	4: 137,949,497 (GRCm39)	P65R	probably damaging	Het
Ighv6-4	T	A	12: 114,370,221 (GRCm39)	Y58F	probably benign	Het
Jrk	T	C	15: 74,578,412 (GRCm39)	D291G	possibly damaging	Het
Kdm4d	A	G	9: 14,375,679 (GRCm39)	Y60H	probably damaging	Het
Khdrbs3	T	C	15: 68,921,291 (GRCm39)	Y203H	probably damaging	Het
Klhl6	A	T	16: 19,775,793 (GRCm39)	V255D	possibly damaging	Het
Krt9	C	T	11: 100,081,614 (GRCm39)	R305H	probably damaging	Het
Lama2	T	G	10: 26,860,490 (GRCm39)	N2999T	probably damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,488,328 (GRCm39)	L106Q	probably damaging	Het
Llph	A	T	10: 120,067,141 (GRCm39)	N86I	probably damaging	Het
Lyst	T	A	13: 13,826,297 (GRCm39)	N1601K	probably benign	Het
Mfsd14a	A	G	3: 116,434,969 (GRCm39)	I249T	probably benign	Het
Mtfp1	G	A	11: 4,044,012 (GRCm39)	R73C	probably benign	Het
Myo1a	A	G	10: 127,555,540 (GRCm39)	Q877R	probably benign	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Ndst3	A	T	3: 123,355,673 (GRCm39)	F119I	probably damaging	Het
Or8k16	A	G	2: 85,520,655 (GRCm39)	N294S	probably damaging	Het
Patl1	T	C	19: 11,902,596 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Plpp6	T	C	19: 28,941,684 (GRCm39)	F95S	probably damaging	Het
Polr2b	T	A	5: 77,474,374 (GRCm39)		probably benign	Het
Qars1	T	G	9: 108,391,315 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rnf213	T	C	11: 119,340,955 (GRCm39)	V3532A	probably benign	Het
Rubcnl	T	C	14: 75,279,849 (GRCm39)	S411P	possibly damaging	Het
Scn1a	C	A	2: 66,148,369 (GRCm39)	G1059W	probably damaging	Het
Sgms1	C	T	19: 32,137,282 (GRCm39)	V95I	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Sorl1	G	A	9: 41,881,021 (GRCm39)	Q2167*	probably null	Het
Stkld1	A	G	2: 26,827,985 (GRCm39)		probably benign	Het
Taar8b	T	C	10: 23,967,900 (GRCm39)	Y98C	probably damaging	Het
Tecta	G	A	9: 42,248,472 (GRCm39)	L1977F	probably damaging	Het
Tecta	G	C	9: 42,248,636 (GRCm39)	T1917R	probably damaging	Het
Topaz1	T	A	9: 122,628,544 (GRCm39)	S1544T	probably benign	Het
Tpx2	T	C	2: 152,735,523 (GRCm39)	I717T	probably damaging	Het
Tyk2	A	T	9: 21,032,737 (GRCm39)	V342E	probably damaging	Het
Ube4a	A	T	9: 44,856,235 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,549,876 (GRCm39)	R711S	possibly damaging	Het
Ush2a	C	A	1: 188,558,665 (GRCm39)	D3631E	probably benign	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Xxylt1	A	G	16: 30,776,235 (GRCm39)	V367A	probably damaging	Het
Zfp735	A	T	11: 73,601,412 (GRCm39)	K119*	probably null	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
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
R6652:Mc1r	UTSW	8	124,134,370 (GRCm39)	missense	probably damaging	1.00
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'- AAGTGTCTATGCCATGCCGAG -3'
(R):5'- AGTAATACATGGGCGAGTGC -3'

Sequencing Primer
(F):5'- TGGCCTGTCCAGCCAGAAAG -3'
(R):5'- TACATGGGCGAGTGCAGGTTG -3'

Posted On

2015-01-12