Mutagenetix > Incidental Mutation

Incidental Mutation 'R6028:Mc3r'

480154

Institutional Source

Beutler Lab

Gene Symbol

Mc3r

Ensembl Gene

ENSMUSG00000038537

Gene Name

melanocortin 3 receptor

Synonyms

MMRRC Submission

044200-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172090412-172093034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 172091129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 117 (D117V)

Ref Sequence

ENSEMBL: ENSMUSP00000047358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038532]

AlphaFold

P33033

Predicted Effect

probably damaging
Transcript: ENSMUST00000038532
AA Change: D117V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: D117V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	45	198	3.2e-12	PFAM
Pfam:7TM_GPCR_Srsx	49	314	1.9e-7	PFAM
Pfam:7tm_1	55	299	5.4e-35	PFAM

Meta Mutation Damage Score

0.7549

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

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 and adaptation to food restriction. Disruption of this gene results in an increased ratio of weight gain to food intake, increased fat mass, and decreased lean mass, without having a large effect on insulin sensitivity or glucose metabolism. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele exhibit obesity, increased respiratory quotient on a high fat diet, and reduced energy expenditure. Homozygotes for another null allele show reduced lean mass, increased fat mass, diet-induced obesity, increased insulin and leptin levels, and reduced energy expenditure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Adck1	A	T	12: 88,368,902 (GRCm39)	M127L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Ankrd33	T	C	15: 101,016,953 (GRCm39)	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,235,888 (GRCm39)	D754G	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,663,412 (GRCm39)	A347S	probably benign	Het
Efcab3	T	C	11: 104,660,481 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,131 (GRCm39)	D137E	possibly damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
Esm1	A	G	13: 113,353,201 (GRCm39)	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,764,345 (GRCm39)	Q671*	probably null	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gpr137c	C	A	14: 45,514,938 (GRCm39)	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Klhl29	G	T	12: 5,140,995 (GRCm39)	Y616*	probably null	Het
Lmnb1	T	G	18: 56,876,348 (GRCm39)	Y485*	probably null	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,831,626 (GRCm39)	N1686I	probably damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marco	T	A	1: 120,418,671 (GRCm39)	Q194L	probably damaging	Het
Meltf	T	A	16: 31,706,294 (GRCm39)	D259E	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Mterf1b	T	A	5: 4,247,666 (GRCm39)		probably null	Het
Muc16	G	A	9: 18,568,472 (GRCm39)	S1349F	unknown	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Ncl	A	G	1: 86,283,855 (GRCm39)	V322A	probably benign	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Patl2	T	A	2: 121,956,618 (GRCm39)	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,786,267 (GRCm39)	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,057,396 (GRCm39)	M287K	probably damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prkar2b	A	T	12: 32,043,757 (GRCm39)	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,576,491 (GRCm39)	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,875,392 (GRCm39)	C197S	probably damaging	Het
Ptprf	A	T	4: 118,070,826 (GRCm39)	V1391D	probably benign	Het
Purb	A	G	11: 6,425,150 (GRCm39)	F246S	probably damaging	Het
Rgs8	C	A	1: 153,566,734 (GRCm39)	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,160,319 (GRCm39)	N545S	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Srgap1	T	C	10: 121,664,635 (GRCm39)	Q490R	probably null	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Utrn	T	C	10: 12,530,460 (GRCm39)	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	Het

Other mutations in Mc3r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Mc3r	APN	2	172,090,948 (GRCm39)	missense	possibly damaging	0.95
IGL01618:Mc3r	APN	2	172,091,290 (GRCm39)	missense	probably benign
IGL01784:Mc3r	APN	2	172,091,290 (GRCm39)	missense	probably benign
IGL01865:Mc3r	APN	2	172,090,975 (GRCm39)	missense	probably damaging	1.00
IGL02164:Mc3r	APN	2	172,091,314 (GRCm39)	missense	probably damaging	1.00
IGL03011:Mc3r	APN	2	172,091,716 (GRCm39)	missense	probably benign	0.08
IGL03266:Mc3r	APN	2	172,091,189 (GRCm39)	missense	probably benign	0.01
R0882:Mc3r	UTSW	2	172,091,711 (GRCm39)	missense	probably benign	0.00
R1005:Mc3r	UTSW	2	172,091,483 (GRCm39)	missense	probably benign	0.00
R1501:Mc3r	UTSW	2	172,091,300 (GRCm39)	missense	probably benign	0.19
R2374:Mc3r	UTSW	2	172,091,074 (GRCm39)	missense	possibly damaging	0.84
R3437:Mc3r	UTSW	2	172,091,588 (GRCm39)	missense	probably benign	0.23
R3813:Mc3r	UTSW	2	172,090,799 (GRCm39)	missense	probably benign	0.06
R3936:Mc3r	UTSW	2	172,091,216 (GRCm39)	missense	probably damaging	1.00
R4225:Mc3r	UTSW	2	172,090,954 (GRCm39)	missense	probably damaging	1.00
R4491:Mc3r	UTSW	2	172,091,123 (GRCm39)	missense	possibly damaging	0.50
R5074:Mc3r	UTSW	2	172,091,533 (GRCm39)	missense	possibly damaging	0.95
R5277:Mc3r	UTSW	2	172,091,707 (GRCm39)	missense	probably damaging	1.00
R5706:Mc3r	UTSW	2	172,091,610 (GRCm39)	nonsense	probably null
R5832:Mc3r	UTSW	2	172,091,350 (GRCm39)	missense	probably benign	0.01
R5865:Mc3r	UTSW	2	172,091,592 (GRCm39)	missense	possibly damaging	0.84
R5881:Mc3r	UTSW	2	172,091,092 (GRCm39)	missense	probably benign	0.22
R5905:Mc3r	UTSW	2	172,091,129 (GRCm39)	missense	probably damaging	1.00
R6492:Mc3r	UTSW	2	172,091,074 (GRCm39)	missense	possibly damaging	0.84
R7037:Mc3r	UTSW	2	172,091,554 (GRCm39)	missense	probably damaging	1.00
R8445:Mc3r	UTSW	2	172,091,237 (GRCm39)	missense	probably damaging	1.00
R8931:Mc3r	UTSW	2	172,091,515 (GRCm39)	missense	possibly damaging	0.84
R9648:Mc3r	UTSW	2	172,091,639 (GRCm39)	missense	probably damaging	1.00
Z1177:Mc3r	UTSW	2	172,091,736 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATCGTCAGTCTGATGGAAAAC -3'
(R):5'- GCTCTCGGAGTAGATGATGAAC -3'

Sequencing Primer
(F):5'- GGAAAACATCCTGGTGATCCTG -3'
(R):5'- GATGAACATCACGCCGCAGATG -3'

Posted On

2017-06-26