Mutagenetix > Incidental Mutation

Incidental Mutation 'R5853:Mc5r'

454793

Institutional Source

Beutler Lab

Gene Symbol

Mc5r

Ensembl Gene

ENSMUSG00000007480

Gene Name

melanocortin 5 receptor

Synonyms

MMRRC Submission

044068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68470575-68475517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68472564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 308 (M308V)

Ref Sequence

ENSEMBL: ENSMUSP00000130497 (fasta)

Gene Model

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

AlphaFold

P41149

Predicted Effect

probably benign
Transcript: ENSMUST00000172148
AA Change: M308V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: M308V

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,939,806 (GRCm39)	V303I	probably benign	Het
Abca4	G	T	3: 121,897,180 (GRCm39)	V620L	probably benign	Het
Ankk1	A	T	9: 49,329,995 (GRCm39)	V320E	possibly damaging	Het
Aoah	G	T	13: 21,184,072 (GRCm39)	A379S	probably benign	Het
Apol7e	A	G	15: 77,598,667 (GRCm39)	D44G	probably benign	Het
Atf2	T	C	2: 73,658,813 (GRCm39)		probably null	Het
Cd209b	T	C	8: 3,976,549 (GRCm39)		probably null	Het
Chek1	G	A	9: 36,624,983 (GRCm39)	S366L	probably damaging	Het
Chpf2	T	C	5: 24,797,190 (GRCm39)	L712P	probably damaging	Het
Clmn	C	A	12: 104,750,161 (GRCm39)		probably null	Het
Cnksr3	T	C	10: 7,092,977 (GRCm39)	D178G	probably benign	Het
Cpox	T	C	16: 58,495,780 (GRCm39)	Y366H	probably damaging	Het
Dnah3	A	G	7: 119,538,056 (GRCm39)	F3632S	probably damaging	Het
Eif5b	T	A	1: 38,076,388 (GRCm39)	D645E	probably damaging	Het
Emilin1	G	A	5: 31,075,966 (GRCm39)	E736K	probably damaging	Het
Gcnt4	G	A	13: 97,083,160 (GRCm39)	R152Q	probably benign	Het
Il6st	T	C	13: 112,618,071 (GRCm39)	S162P	probably damaging	Het
Iqub	T	C	6: 24,491,601 (GRCm39)	K362E	probably benign	Het
Kif22	G	T	7: 126,632,539 (GRCm39)	P257Q	possibly damaging	Het
Lhx2	T	C	2: 38,259,053 (GRCm39)	V378A	probably damaging	Het
Lipo3	A	G	19: 33,759,630 (GRCm39)	V202A	probably benign	Het
Lrp1b	T	A	2: 40,553,738 (GRCm39)	N366I	unknown	Het
Mbip	T	C	12: 56,382,662 (GRCm39)	D268G	probably damaging	Het
Mndal	C	A	1: 173,690,070 (GRCm39)	G420V	probably damaging	Het
Nbea	A	T	3: 55,899,822 (GRCm39)	N1442K	probably damaging	Het
Ndufv1	A	T	19: 4,058,811 (GRCm39)		probably null	Het
Ofcc1	A	G	13: 40,360,193 (GRCm39)	S279P	probably benign	Het
Or4k2	A	T	14: 50,424,326 (GRCm39)	M116K	possibly damaging	Het
Or6b2b	T	C	1: 92,419,439 (GRCm39)	I13V	probably benign	Het
Pabpc1l	A	T	2: 163,891,438 (GRCm39)	H552L	probably benign	Het
Pigr	T	A	1: 130,774,341 (GRCm39)	C440*	probably null	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Prss30	C	T	17: 24,191,820 (GRCm39)	V271I	probably damaging	Het
Psme4	T	A	11: 30,741,234 (GRCm39)		probably null	Het
Qrich1	T	A	9: 108,410,807 (GRCm39)		probably benign	Het
Rem1	C	G	2: 152,470,200 (GRCm39)	A62G	possibly damaging	Het
Rftn1	T	C	17: 50,354,354 (GRCm39)	N58S	probably damaging	Het
Rp9	G	A	9: 22,360,065 (GRCm39)		probably benign	Het
Rrp1b	G	A	17: 32,275,658 (GRCm39)	V402I	possibly damaging	Het
Slc25a33	A	T	4: 149,838,349 (GRCm39)	Y108N	probably benign	Het
Slc3a1	A	G	17: 85,340,008 (GRCm39)	M189V	probably damaging	Het
Slc44a1	A	C	4: 53,528,682 (GRCm39)	K144T	probably benign	Het
Tbc1d13	T	A	2: 30,027,393 (GRCm39)	H100Q	probably damaging	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tmem70	T	C	1: 16,735,556 (GRCm39)	W9R	possibly damaging	Het
Tspan1	A	G	4: 116,020,502 (GRCm39)		probably null	Het
Unc13a	T	C	8: 72,107,773 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,323,738 (GRCm39)	F395S	probably damaging	Het
Uvrag	A	C	7: 98,537,284 (GRCm39)	L637R	possibly damaging	Het
Vmn1r213	T	G	13: 23,195,684 (GRCm39)	L3W	probably benign	Het
Zfp280d	C	T	9: 72,238,224 (GRCm39)	T528I	probably benign	Het
Zfp526	C	T	7: 24,924,601 (GRCm39)	Q287*	probably null	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
R1179:Mc5r	UTSW	18	68,471,741 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- CCAAGTATGTGATCATTTGCCTC -3'
(R):5'- CGGAATCCGTGACAACAGAC -3'

Sequencing Primer
(F):5'- CATGGTGTCTCTGTATATACACATG -3'
(R):5'- AGACGATCTCCTTAAAGGTCCTC -3'

Posted On

2017-02-10