Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Mc4r'

195339

Institutional Source

Beutler Lab

Gene Symbol

Mc4r

Ensembl Gene

ENSMUSG00000047259

Gene Name

melanocortin 4 receptor

Synonyms

Pkcp, Fatboy

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

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

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66990776-66993558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66992918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 65 (V65E)

Ref Sequence

ENSEMBL: ENSMUSP00000054776 (fasta)

Gene Model

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

AlphaFold

P56450

Predicted Effect

probably damaging
Transcript: ENSMUST00000057942
AA Change: V65E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: V65E

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

0.9242

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,117 (GRCm39)	K211E	probably damaging	Het
Abca13	T	A	11: 9,219,194 (GRCm39)	L376Q	probably damaging	Het
Abca17	T	C	17: 24,486,531 (GRCm39)	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639 (GRCm39)	N363K	possibly damaging	Het
Apob	T	A	12: 8,059,603 (GRCm39)	I2695N	possibly damaging	Het
Arhgef18	C	T	8: 3,430,495 (GRCm39)	R123W	probably damaging	Het
Atg14	T	A	14: 47,786,607 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,306,243 (GRCm39)	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,732,567 (GRCm39)	S373P	probably damaging	Het
Ccdc83	T	C	7: 89,899,749 (GRCm39)	E41G	probably damaging	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,917,094 (GRCm39)		probably null	Het
Cdh8	A	T	8: 100,006,290 (GRCm39)	I99N	probably damaging	Het
Cdr2	G	A	7: 120,557,268 (GRCm39)	P419L	probably benign	Het
Cds1	T	A	5: 101,960,416 (GRCm39)	I289K	possibly damaging	Het
Cherp	G	A	8: 73,221,615 (GRCm39)	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,742,993 (GRCm39)	I222S	possibly damaging	Het
Dcc	A	G	18: 71,511,788 (GRCm39)	S856P	probably benign	Het
Dcp1a	C	T	14: 30,235,032 (GRCm39)	T221I	probably benign	Het
Ddx10	A	G	9: 53,118,845 (GRCm39)	S475P	probably damaging	Het
Dennd5b	G	T	6: 148,928,896 (GRCm39)	A759E	probably damaging	Het
Disp2	G	A	2: 118,623,042 (GRCm39)	G1258D	probably damaging	Het
Fhdc1	A	T	3: 84,356,111 (GRCm39)	D444E	probably damaging	Het
Fhod1	T	C	8: 106,074,421 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,800 (GRCm39)	K8R	probably benign	Het
Gk5	C	T	9: 96,015,508 (GRCm39)	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Gnl1	A	T	17: 36,298,638 (GRCm39)	I434F	probably damaging	Het
Golga2	T	C	2: 32,196,588 (GRCm39)	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,407,550 (GRCm39)	V32A	probably benign	Het
Grb14	A	T	2: 64,805,899 (GRCm39)		probably null	Het
H6pd	A	T	4: 150,080,388 (GRCm39)	F144L	probably damaging	Het
Hunk	A	G	16: 90,229,448 (GRCm39)	Y27C	probably damaging	Het
Ints7	C	T	1: 191,328,396 (GRCm39)	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,233,152 (GRCm39)		probably null	Het
Lilra6	A	T	7: 3,918,066 (GRCm39)	L26H	probably benign	Het
Mgam	G	A	6: 40,646,797 (GRCm39)	G708R	probably damaging	Het
Mllt6	A	G	11: 97,563,395 (GRCm39)	D326G	probably benign	Het
Myo7a	A	T	7: 97,722,331 (GRCm39)	V1198D	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,449,266 (GRCm39)	V123L	probably benign	Het
Ntpcr	T	A	8: 126,472,141 (GRCm39)	L150Q	probably damaging	Het
Obscn	C	T	11: 58,997,163 (GRCm39)	E1513K	probably damaging	Het
Ola1	T	C	2: 72,987,099 (GRCm39)	K178E	possibly damaging	Het
Opalin	T	C	19: 41,056,070 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,541 (GRCm39)	N284S	probably damaging	Het
Or13a20	A	T	7: 140,232,419 (GRCm39)	I176F	probably damaging	Het
Or2ad1	C	T	13: 21,326,934 (GRCm39)	V98I	probably benign	Het
Or2w2	C	T	13: 21,757,711 (GRCm39)	G305D	probably damaging	Het
Or3a10	A	T	11: 73,935,786 (GRCm39)	F105I	probably damaging	Het
Or51ah3	C	T	7: 103,209,773 (GRCm39)	P30S	probably benign	Het
Or52ae9	T	C	7: 103,390,028 (GRCm39)	M140V	probably benign	Het
Or52e15	A	T	7: 104,645,315 (GRCm39)	F265L	possibly damaging	Het
Or5p62	A	G	7: 107,771,090 (GRCm39)	V287A	probably benign	Het
Or7a35	T	C	10: 78,853,159 (GRCm39)	M1T	probably null	Het
P2ry12	A	G	3: 59,125,199 (GRCm39)	F159L	probably benign	Het
Paqr7	T	C	4: 134,234,592 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,415,578 (GRCm39)	S466P	probably benign	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,977 (GRCm39)	D952G	probably damaging	Het
Pde6c	T	C	19: 38,140,146 (GRCm39)	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,519,398 (GRCm39)	D10G	probably benign	Het
Phf20l1	A	G	15: 66,504,674 (GRCm39)	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,285,682 (GRCm39)	L251P	probably damaging	Het
Prex2	A	T	1: 11,270,179 (GRCm39)	N1288I	probably benign	Het
Sarnp	T	C	10: 128,669,191 (GRCm39)	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,900,033 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,584,148 (GRCm39)	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,302,729 (GRCm39)	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,085,521 (GRCm39)	S377P	probably benign	Het
Slc22a30	T	A	19: 8,313,136 (GRCm39)	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,535,651 (GRCm39)	T296A	probably benign	Het
Slc35f1	T	A	10: 52,938,532 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,311,811 (GRCm39)	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Srsf9	C	A	5: 115,465,481 (GRCm39)	Y9*	probably null	Het
Tasor2	T	C	13: 3,634,759 (GRCm39)	T683A	possibly damaging	Het
Tbx20	T	C	9: 24,636,795 (GRCm39)	I431V	probably benign	Het
Tespa1	G	A	10: 130,184,119 (GRCm39)	G67S	probably benign	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Trip12	A	T	1: 84,708,342 (GRCm39)	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	G	A	17: 31,187,524 (GRCm39)	R196H	probably damaging	Het
Vezf1	G	T	11: 87,972,447 (GRCm39)	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,656,550 (GRCm39)	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,048,300 (GRCm39)	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,239,594 (GRCm39)	G323V	probably benign	Het
Vmn2r79	A	T	7: 86,651,555 (GRCm39)	H318L	probably benign	Het
Zfhx3	T	A	8: 109,520,167 (GRCm39)	S430T	probably benign	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
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
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'- TGCGAGCAAGGAGCTACAGATCAC -3'
(R):5'- ACCCAGGAGGTTGGATCAGTTCAAG -3'

Sequencing Primer
(F):5'- AGCTACAGATCACAGAGTCAATG -3'
(R):5'- TCAGTTCAAGGAGGACTCAAATC -3'

Posted On

2014-05-23