Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Mc4r'

230923

Institutional Source

Beutler Lab

Gene Symbol

Mc4r

Ensembl Gene

ENSMUSG00000047259

Gene Name

melanocortin 4 receptor

Synonyms

Pkcp, Fatboy

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

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

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66990776-66993558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66992669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 148 (Y148C)

Ref Sequence

ENSEMBL: ENSMUSP00000054776 (fasta)

Gene Model

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

AlphaFold

P56450

Predicted Effect

probably damaging
Transcript: ENSMUST00000057942
AA Change: Y148C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: Y148C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,650,459 (GRCm39)	P1189L	probably benign	Het
Acbd4	G	A	11: 102,995,265 (GRCm39)	D57N	probably damaging	Het
Acot4	A	T	12: 84,085,516 (GRCm39)	M78L	probably damaging	Het
Ago1	A	T	4: 126,355,581 (GRCm39)	M76K	probably benign	Het
Agrn	G	T	4: 156,261,756 (GRCm39)	Y511*	probably null	Het
Arhgef15	A	T	11: 68,838,507 (GRCm39)		probably null	Het
Atp1a3	A	T	7: 24,689,278 (GRCm39)	M594K	probably damaging	Het
Atp4a	G	A	7: 30,419,793 (GRCm39)		probably null	Het
Bckdk	T	A	7: 127,506,489 (GRCm39)	I272N	probably damaging	Het
Bod1l	A	G	5: 41,989,622 (GRCm39)	V367A	probably benign	Het
C1galt1c1	T	C	X: 37,720,145 (GRCm39)	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,366,105 (GRCm39)	C4*	probably null	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chil3	T	C	3: 106,067,794 (GRCm39)	I124V	possibly damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Cyp2c67	T	C	19: 39,614,681 (GRCm39)	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,770,793 (GRCm39)	A1201T	probably benign	Het
Dock4	A	G	12: 40,742,988 (GRCm39)	H381R	probably benign	Het
Drc1	C	T	5: 30,513,785 (GRCm39)	S447F	probably benign	Het
Fam83g	G	T	11: 61,594,284 (GRCm39)	R606L	probably benign	Het
Fmnl1	A	C	11: 103,085,518 (GRCm39)	S688R	probably benign	Het
Fryl	C	T	5: 73,279,642 (GRCm39)	V219I	probably benign	Het
Golgb1	T	A	16: 36,735,026 (GRCm39)	N1424K	probably benign	Het
Gpr39	T	C	1: 125,605,621 (GRCm39)	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,351,409 (GRCm39)	Y274N	probably benign	Het
Hif1a	T	A	12: 73,984,519 (GRCm39)	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,138,267 (GRCm39)	M787K	probably damaging	Het
Hipk3	T	C	2: 104,269,737 (GRCm39)	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,954,490 (GRCm39)	F291I	probably benign	Het
Ino80	T	C	2: 119,262,410 (GRCm39)	E692G	probably null	Het
Itgam	T	A	7: 127,680,884 (GRCm39)	V271D	probably damaging	Het
Kansl1	A	C	11: 104,226,385 (GRCm39)	I924S	probably damaging	Het
Kcnq2	A	G	2: 180,723,145 (GRCm39)	C628R	probably benign	Het
Krt78	A	C	15: 101,855,849 (GRCm39)	V654G	possibly damaging	Het
Lrit2	A	G	14: 36,793,913 (GRCm39)	T326A	probably damaging	Het
Ltk	T	C	2: 119,582,569 (GRCm39)	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,042,285 (GRCm39)	L53S	probably damaging	Het
Mfn2	G	A	4: 147,973,162 (GRCm39)	Q172*	probably null	Het
Mknk2	A	G	10: 80,504,435 (GRCm39)	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,216,573 (GRCm39)	H167L	probably benign	Het
Myc	T	C	15: 61,859,951 (GRCm39)	V208A	probably damaging	Het
Myh7b	A	G	2: 155,471,377 (GRCm39)	E1175G	probably benign	Het
Myo18a	A	T	11: 77,741,060 (GRCm39)	M1456L	probably benign	Het
Myocd	G	A	11: 65,109,484 (GRCm39)	Q96*	probably null	Het
Nckap5	T	A	1: 125,954,255 (GRCm39)	I766F	probably damaging	Het
Ndst1	T	C	18: 60,824,325 (GRCm39)	E784G	probably benign	Het
Nf1	A	T	11: 79,360,652 (GRCm39)	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,361,072 (GRCm39)	W228R	probably damaging	Het
Nup107	G	A	10: 117,609,225 (GRCm39)	T378I	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or52d13	T	A	7: 103,109,480 (GRCm39)		probably null	Het
Or5m3b	C	T	2: 85,871,674 (GRCm39)	T5I	probably damaging	Het
Or5w11	A	G	2: 87,459,283 (GRCm39)	T159A	probably benign	Het
Or6b13	T	A	7: 139,782,656 (GRCm39)	D9V	probably benign	Het
Otop1	A	G	5: 38,457,801 (GRCm39)	D520G	probably benign	Het
Papln	C	T	12: 83,827,010 (GRCm39)	P712S	probably benign	Het
Pcbd2	T	A	13: 55,880,846 (GRCm39)	I34N	probably damaging	Het
Pkd1l3	T	A	8: 110,374,205 (GRCm39)	C29*	probably null	Het
Pou5f1	G	A	17: 35,820,899 (GRCm39)	V114M	probably benign	Het
Pramel28	A	T	4: 143,692,390 (GRCm39)	Y204N	probably benign	Het
Prpf4b	C	A	13: 35,068,214 (GRCm39)		probably benign	Het
Prr23a1	C	T	9: 98,724,709 (GRCm39)	P24S	probably damaging	Het
Ptch1	T	A	13: 63,693,059 (GRCm39)	M65L	probably benign	Het
Rc3h2	A	T	2: 37,289,636 (GRCm39)	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195 (GRCm39)	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,287,285 (GRCm39)	D68G	probably damaging	Het
Ryr1	G	T	7: 28,789,575 (GRCm39)	T1513K	probably damaging	Het
Sacs	A	G	14: 61,410,890 (GRCm39)	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,398,527 (GRCm39)	S28P	probably benign	Het
Scrn3	A	G	2: 73,160,196 (GRCm39)	M280V	probably damaging	Het
Snx29	C	T	16: 11,328,898 (GRCm39)	T559I	possibly damaging	Het
Spn	C	T	7: 126,735,413 (GRCm39)	E109K	probably damaging	Het
Sra1	C	T	18: 36,808,121 (GRCm39)	R369H	probably benign	Het
Srsf11	C	T	3: 157,724,982 (GRCm39)	A64T	probably damaging	Het
Stk17b	A	G	1: 53,815,764 (GRCm39)	S12P	probably benign	Het
Sult1d1	C	A	5: 87,707,661 (GRCm39)	G153V	probably damaging	Het
Sycp2	A	T	2: 177,991,931 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,116,543 (GRCm39)	E165G	possibly damaging	Het
Tns2	C	A	15: 102,015,941 (GRCm39)	H160N	probably benign	Het
Ubn1	T	A	16: 4,895,088 (GRCm39)	C711*	probably null	Het
Usp13	A	T	3: 32,956,135 (GRCm39)	D469V	probably damaging	Het
Vmn1r231	A	T	17: 21,110,380 (GRCm39)	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,857,250 (GRCm39)	S183P	probably damaging	Het
Xpo7	A	G	14: 70,928,431 (GRCm39)	I424T	probably benign	Het
Zfp109	A	G	7: 23,936,041 (GRCm39)		probably null	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
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
R4877:Mc4r	UTSW	18	66,992,409 (GRCm39)	missense	probably benign	0.00
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'- AATGTGAAGCCTCGCCATCAG -3'
(R):5'- TGGCAGATATGCTGGTGAGC -3'

Sequencing Primer
(F):5'- TCGCCATCAGGAACATGTG -3'
(R):5'- TGAGCGTTTCGAATGGGTC -3'

Posted On

2014-09-18