Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Mc4r'

375027

Institutional Source

Beutler Lab

Gene Symbol

Mc4r

Ensembl Gene

ENSMUSG00000047259

Gene Name

melanocortin 4 receptor

Synonyms

Pkcp, Fatboy

MMRRC Submission

042486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66990776-66993558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66992409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 235 (I235V)

Ref Sequence

ENSEMBL: ENSMUSP00000054776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057942]

AlphaFold

P56450

Predicted Effect

probably benign
Transcript: ENSMUST00000057942
AA Change: I235V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: I235V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	51	228	8.1e-11	PFAM
Pfam:7TM_GPCR_Srsx	55	317	6e-12	PFAM
Pfam:7tm_1	61	302	2.7e-31	PFAM

Meta Mutation Damage Score

0.0800

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis. Disruption of this gene promotes hyperphagia and obesity, and is associated with increased cholesterol levels and insulin resistance. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mutations in this gene result in hyperglycemia and weight gain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	probably damaging	Het

Other mutations in Mc4r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Mc4r	APN	18	66,992,229 (GRCm39)	missense	probably benign	0.01
IGL01382:Mc4r	APN	18	66,992,864 (GRCm39)	missense	probably damaging	0.96
IGL01820:Mc4r	APN	18	66,992,226 (GRCm39)	missense	probably benign	0.00
IGL02749:Mc4r	APN	18	66,992,733 (GRCm39)	missense	probably damaging	1.00
IGL02812:Mc4r	APN	18	66,992,318 (GRCm39)	missense	probably damaging	1.00
IGL03403:Mc4r	APN	18	66,992,597 (GRCm39)	missense	possibly damaging	0.61
Big_boned	UTSW	18	66,992,559 (GRCm39)	missense	probably damaging	1.00
Big_mac	UTSW	18	66,992,927 (GRCm39)	missense	probably damaging	1.00
blubbery	UTSW	18	66,992,253 (GRCm39)	missense	probably damaging	1.00
Cetacean	UTSW	18	66,992,251 (GRCm39)	nonsense	probably null
chubby	UTSW	18	66,992,918 (GRCm39)	missense	probably damaging	1.00
halloween	UTSW	18	66,992,892 (GRCm39)	missense	probably damaging	1.00
Leviathan	UTSW	18	66,993,110 (GRCm39)	start codon destroyed	probably null	0.49
southbeach	UTSW	18	66,992,213 (GRCm39)	missense	probably damaging	1.00
R1552:Mc4r	UTSW	18	66,992,766 (GRCm39)	missense	probably benign	0.00
R1623:Mc4r	UTSW	18	66,993,068 (GRCm39)	missense	probably benign	0.03
R1666:Mc4r	UTSW	18	66,992,480 (GRCm39)	missense	probably damaging	1.00
R1668:Mc4r	UTSW	18	66,992,480 (GRCm39)	missense	probably damaging	1.00
R1781:Mc4r	UTSW	18	66,992,918 (GRCm39)	missense	probably damaging	1.00
R1873:Mc4r	UTSW	18	66,992,531 (GRCm39)	missense	probably damaging	1.00
R2105:Mc4r	UTSW	18	66,992,669 (GRCm39)	missense	probably damaging	1.00
R2210:Mc4r	UTSW	18	66,992,466 (GRCm39)	missense	probably damaging	1.00
R3714:Mc4r	UTSW	18	66,992,892 (GRCm39)	missense	probably damaging	1.00
R3715:Mc4r	UTSW	18	66,992,892 (GRCm39)	missense	probably damaging	1.00
R4115:Mc4r	UTSW	18	66,993,050 (GRCm39)	missense	probably benign
R4322:Mc4r	UTSW	18	66,992,121 (GRCm39)	missense	probably benign	0.00
R4492:Mc4r	UTSW	18	66,992,711 (GRCm39)	missense	probably benign	0.00
R4806:Mc4r	UTSW	18	66,992,559 (GRCm39)	missense	probably damaging	1.00
R6161:Mc4r	UTSW	18	66,992,251 (GRCm39)	nonsense	probably null
R6802:Mc4r	UTSW	18	66,992,488 (GRCm39)	missense	probably benign	0.21
R6807:Mc4r	UTSW	18	66,992,927 (GRCm39)	missense	probably damaging	1.00
R6929:Mc4r	UTSW	18	66,992,253 (GRCm39)	missense	probably damaging	1.00
R7623:Mc4r	UTSW	18	66,992,580 (GRCm39)	missense	probably benign	0.32
R8292:Mc4r	UTSW	18	66,993,082 (GRCm39)	nonsense	probably null
R8560:Mc4r	UTSW	18	66,992,166 (GRCm39)	missense	possibly damaging	0.60
R8897:Mc4r	UTSW	18	66,992,304 (GRCm39)	missense	probably damaging	0.99
R8943:Mc4r	UTSW	18	66,993,110 (GRCm39)	start codon destroyed	probably null	0.49

Predicted Primers

PCR Primer
(F):5'- GCGTTACACATGATCAGTATGAG -3'
(R):5'- ACATCATGACGGTTAGGCGG -3'

Sequencing Primer
(F):5'- TCTGAGGGCAAGAGATGT -3'
(R):5'- CATCATAAGTTGTATCTGGGCAGC -3'

Posted On

2016-03-17