Mutagenetix > Incidental Mutation

Incidental Mutation 'R1179:Mc5r'

100256

Institutional Source

Beutler Lab

Gene Symbol

Mc5r

Ensembl Gene

ENSMUSG00000007480

Gene Name

melanocortin 5 receptor

Synonyms

MMRRC Submission

039251-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1179 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

68470575-68475517 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 68471741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172148]

AlphaFold

P41149

Predicted Effect

probably null
Transcript: ENSMUST00000172148

SMART Domains

Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
Pfam:7tm_4	90	314	1.6e-10	PFAM
Pfam:7TM_GPCR_Srsx	94	357	9.8e-10	PFAM
Pfam:7tm_1	100	342	6.2e-33	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.5%
10x: 93.7%
20x: 84.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in a severe defect in water repulsion and thermoregulation due to decreased production of sebaceous lipids. Males exhibit less aggressive and more defensive behavior when placed with wildtype males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,117,054 (GRCm39)		probably null	Het
Aknad1	T	C	3: 108,659,783 (GRCm39)	S266P	possibly damaging	Het
Gaa	A	T	11: 119,171,954 (GRCm39)	R686W	probably damaging	Het
Gls2	A	T	10: 128,035,103 (GRCm39)	T79S	probably damaging	Het
Golga2	G	T	2: 32,193,707 (GRCm39)	R511L	possibly damaging	Het
Hrnr	T	C	3: 93,239,850 (GRCm39)	S3363P	unknown	Het
Ift81	T	C	5: 122,740,773 (GRCm39)	K187R	probably benign	Het
Kcnj1	T	A	9: 32,308,062 (GRCm39)	I162N	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Naga	T	A	15: 82,214,357 (GRCm39)	N385Y	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nrip3	A	G	7: 109,362,762 (GRCm39)	V163A	probably damaging	Het
Or6c202	A	C	10: 128,995,927 (GRCm39)	S309A	probably benign	Het
Or8g55	T	C	9: 39,785,371 (GRCm39)	S267P	possibly damaging	Het
Pacsin3	A	G	2: 91,094,205 (GRCm39)	E378G	probably damaging	Het
Pnisr	A	G	4: 21,865,937 (GRCm39)	T309A	possibly damaging	Het
Rad54l	A	T	4: 115,968,517 (GRCm39)	L93Q	probably benign	Het
Ralgps2	G	T	1: 156,729,369 (GRCm39)	P50Q	probably damaging	Het
Stab2	A	G	10: 86,786,165 (GRCm39)	V594A	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tmem17	A	T	11: 22,468,454 (GRCm39)	N131I	probably damaging	Het
Trrap	G	A	5: 144,714,749 (GRCm39)	R107H	possibly damaging	Het
Vmp1	T	C	11: 86,498,055 (GRCm39)	T287A	probably damaging	Het
Zfp423	T	A	8: 88,414,700 (GRCm39)	H1185L	probably damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het

Other mutations in Mc5r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Mc5r	APN	18	68,472,315 (GRCm39)	missense	probably damaging	1.00
IGL02396:Mc5r	APN	18	68,472,537 (GRCm39)	missense	possibly damaging	0.88
IGL02474:Mc5r	APN	18	68,471,910 (GRCm39)	missense	probably damaging	1.00
IGL02489:Mc5r	APN	18	68,472,597 (GRCm39)	missense	probably damaging	0.99
IGL03323:Mc5r	APN	18	68,472,286 (GRCm39)	missense	probably benign	0.00
R0022:Mc5r	UTSW	18	68,471,853 (GRCm39)	missense	probably benign
R0022:Mc5r	UTSW	18	68,471,853 (GRCm39)	missense	probably benign
R0067:Mc5r	UTSW	18	68,472,637 (GRCm39)	missense	probably damaging	1.00
R0067:Mc5r	UTSW	18	68,472,637 (GRCm39)	missense	probably damaging	1.00
R0883:Mc5r	UTSW	18	68,472,163 (GRCm39)	missense	probably damaging	1.00
R1789:Mc5r	UTSW	18	68,471,741 (GRCm39)	splice site	probably null
R1866:Mc5r	UTSW	18	68,471,741 (GRCm39)	splice site	probably null
R2291:Mc5r	UTSW	18	68,472,435 (GRCm39)	missense	probably damaging	1.00
R4297:Mc5r	UTSW	18	68,472,378 (GRCm39)	missense	probably benign	0.00
R4960:Mc5r	UTSW	18	68,471,890 (GRCm39)	missense	possibly damaging	0.50
R5062:Mc5r	UTSW	18	68,472,352 (GRCm39)	missense	probably damaging	1.00
R5521:Mc5r	UTSW	18	68,472,748 (GRCm39)	missense	possibly damaging	0.73
R5853:Mc5r	UTSW	18	68,472,564 (GRCm39)	missense	probably benign	0.25
R6007:Mc5r	UTSW	18	68,472,318 (GRCm39)	missense	possibly damaging	0.93
R7326:Mc5r	UTSW	18	68,472,739 (GRCm39)	missense	probably damaging	1.00
R9160:Mc5r	UTSW	18	68,472,205 (GRCm39)	missense	probably damaging	1.00
R9287:Mc5r	UTSW	18	68,472,200 (GRCm39)	missense	probably damaging	1.00
R9471:Mc5r	UTSW	18	68,472,127 (GRCm39)	missense	probably damaging	1.00
R9511:Mc5r	UTSW	18	68,472,565 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

Posted On

2014-01-15