Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Mc5r'

15208

Institutional Source

Beutler Lab

Gene Symbol

Mc5r

Ensembl Gene

ENSMUSG00000007480

Gene Name

melanocortin 5 receptor

Synonyms

MMRRC Submission

038317-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

68337603-68339711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68338782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 71 (S71A)

Ref Sequence

ENSEMBL: ENSMUSP00000130497 (fasta)

Gene Model

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

AlphaFold

P41149

Predicted Effect

probably benign
Transcript: ENSMUST00000172148
AA Change: S71A

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

SMART Domains

Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: S71A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 82.0%
3x: 74.9%
10x: 56.1%
20x: 37.0%

Validation Efficiency

97% (90/93)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	T	1: 37,628,245	R240Q	probably damaging	Het
Aste1	T	A	9: 105,396,624	L21*	probably null	Het
Btbd10	G	A	7: 113,325,781	Q287*	probably null	Het
Cd244	A	G	1: 171,573,762	D48G	probably benign	Het
Cdc20	T	A	4: 118,435,489	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,082,264	T120I	probably damaging	Het
Chd8	A	T	14: 52,232,855	S433T	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col9a3	A	G	2: 180,619,756	D613G	probably damaging	Het
Coro7	C	T	16: 4,633,304	R507H	probably benign	Het
Csf1	A	T	3: 107,753,862	V113E	probably damaging	Het
Dclre1b	G	T	3: 103,803,148	H482Q	probably benign	Het
Ephb6	T	C	6: 41,614,569	V220A	probably damaging	Het
Ggct	C	A	6: 54,985,902	E175*	probably null	Het
Gm5316	T	C	6: 122,900,395		noncoding transcript	Het
Gzmn	A	G	14: 56,166,925	S152P	probably damaging	Het
Hoxa7	T	C	6: 52,217,383	N8S	probably damaging	Het
Il12rb2	A	G	6: 67,298,919	F630S	probably damaging	Het
Kit	A	G	5: 75,622,997	N378S	probably benign	Het
Lrp1b	A	T	2: 40,998,038		probably benign	Het
Ltbp1	T	A	17: 75,364,360	V1194D	probably damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Naa25	C	A	5: 121,417,976	L276M	probably damaging	Het
Nlrp1b	T	G	11: 71,161,929	K888T	possibly damaging	Het
Pabpc6	A	T	17: 9,669,216	N135K	probably benign	Het
Pik3r2	A	G	8: 70,770,901	F346S	probably damaging	Het
Pkd1	T	C	17: 24,594,819	W4086R	probably damaging	Het
Pmfbp1	C	T	8: 109,525,407	R395W	probably damaging	Het
Ppp1ca	T	G	19: 4,194,581	V213G	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rapgef2	G	A	3: 79,087,900	R814C	probably damaging	Het
Rnasel	A	T	1: 153,760,775	I634F	probably damaging	Het
Rnf157	A	T	11: 116,349,450		probably benign	Het
Ryr3	A	G	2: 112,640,666	S4567P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smcr8	T	A	11: 60,780,359	W778R	probably damaging	Het
Stat1	T	A	1: 52,140,630	L333Q	probably damaging	Het
Taar1	G	T	10: 23,920,727	A108S	probably benign	Het
Tro	C	G	X: 150,647,512		probably benign	Het
Ubr1	A	T	2: 120,961,173		probably benign	Het

Other mutations in Mc5r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Mc5r	APN	18	68339244	missense	probably damaging	1.00
IGL02396:Mc5r	APN	18	68339466	missense	possibly damaging	0.88
IGL02474:Mc5r	APN	18	68338839	missense	probably damaging	1.00
IGL02489:Mc5r	APN	18	68339526	missense	probably damaging	0.99
IGL03323:Mc5r	APN	18	68339215	missense	probably benign	0.00
R0022:Mc5r	UTSW	18	68338782	missense	probably benign
R0067:Mc5r	UTSW	18	68339566	missense	probably damaging	1.00
R0067:Mc5r	UTSW	18	68339566	missense	probably damaging	1.00
R0883:Mc5r	UTSW	18	68339092	missense	probably damaging	1.00
R1179:Mc5r	UTSW	18	68338670	splice site	probably null
R1789:Mc5r	UTSW	18	68338670	splice site	probably null
R1866:Mc5r	UTSW	18	68338670	splice site	probably null
R2291:Mc5r	UTSW	18	68339364	missense	probably damaging	1.00
R4297:Mc5r	UTSW	18	68339307	missense	probably benign	0.00
R4960:Mc5r	UTSW	18	68338819	missense	possibly damaging	0.50
R5062:Mc5r	UTSW	18	68339281	missense	probably damaging	1.00
R5521:Mc5r	UTSW	18	68339677	missense	possibly damaging	0.73
R5853:Mc5r	UTSW	18	68339493	missense	probably benign	0.25
R6007:Mc5r	UTSW	18	68339247	missense	possibly damaging	0.93
R7326:Mc5r	UTSW	18	68339668	missense	probably damaging	1.00
R9160:Mc5r	UTSW	18	68339134	missense	probably damaging	1.00
R9287:Mc5r	UTSW	18	68339129	missense	probably damaging	1.00
R9471:Mc5r	UTSW	18	68339056	missense	probably damaging	1.00
R9511:Mc5r	UTSW	18	68339494	missense	possibly damaging	0.65

Posted On

2012-12-12