Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01866:Mc2r'

178539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mc2r

Ensembl Gene

ENSMUSG00000045569

Gene Name

melanocortin 2 receptor

Synonyms

adrenocorticotropic hormone receptor, Acthr

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01866

Quality Score

Status

Chromosome

Chromosomal Location

68539978-68562391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68540494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 266 (M266I)

Ref Sequence

ENSEMBL: ENSMUSP00000058691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052347]

AlphaFold

Q64326

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052347
AA Change: M266I

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: M266I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	291	2.4e-13	PFAM
Pfam:7tm_1	41	276	1.1e-29	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality due to impaired gluconeogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	C	4: 144,255,119 (GRCm39)	Y180H	possibly damaging	Het
Abi3bp	A	T	16: 56,492,336 (GRCm39)	I1361L	probably benign	Het
Amph	A	T	13: 19,326,172 (GRCm39)	D634V	probably damaging	Het
Ank1	G	A	8: 23,583,871 (GRCm39)	V317I	possibly damaging	Het
Ap4e1	G	A	2: 126,888,830 (GRCm39)	V460I	possibly damaging	Het
Arhgap19	A	T	19: 41,775,016 (GRCm39)	H198Q	probably benign	Het
Cacna1g	C	T	11: 94,347,937 (GRCm39)	G717D	probably damaging	Het
Camkk2	A	G	5: 122,902,013 (GRCm39)	S99P	probably damaging	Het
Catsperb	T	A	12: 101,475,570 (GRCm39)	Y371*	probably null	Het
Cbl	A	T	9: 44,065,122 (GRCm39)	C735*	probably null	Het
Ccdc146	C	A	5: 21,538,052 (GRCm39)	A91S	probably damaging	Het
Col1a2	G	T	6: 4,524,132 (GRCm39)	D531Y	probably damaging	Het
Dscam	T	A	16: 96,486,550 (GRCm39)	T1042S	probably benign	Het
Dtnb	A	G	12: 3,782,626 (GRCm39)	Y363C	probably benign	Het
Ear10	A	G	14: 44,160,785 (GRCm39)	L14P	probably damaging	Het
Egf	A	G	3: 129,529,529 (GRCm39)	S294P	probably benign	Het
Erbb3	T	C	10: 128,405,237 (GRCm39)	*1340W	probably null	Het
Fam217b	A	G	2: 178,062,224 (GRCm39)	T63A	probably benign	Het
Fig4	G	A	10: 41,108,160 (GRCm39)	P680L	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm6882	T	A	7: 21,161,512 (GRCm39)	I119F	probably damaging	Het
Hdac10	C	A	15: 89,008,736 (GRCm39)	G442W	probably damaging	Het
Mep1b	A	G	18: 21,228,050 (GRCm39)	Q551R	probably benign	Het
Mtrf1	T	A	14: 79,638,948 (GRCm39)	C27S	probably benign	Het
Myo5c	T	A	9: 75,176,864 (GRCm39)	M603K	probably benign	Het
Nuf2	A	G	1: 169,326,407 (GRCm39)	L448P	possibly damaging	Het
Or10a49	C	T	7: 108,468,006 (GRCm39)	M118I	possibly damaging	Het
Or1e30	A	T	11: 73,678,654 (GRCm39)	I297L	probably benign	Het
Or2b7	T	C	13: 21,739,343 (GRCm39)	N283S	probably benign	Het
Or8g33	A	T	9: 39,338,025 (GRCm39)	M114K	probably damaging	Het
Ppp2r5c	T	C	12: 110,534,261 (GRCm39)	Y375H	probably benign	Het
Pstpip2	A	G	18: 77,965,325 (GRCm39)	I317M	probably benign	Het
Pxdn	A	G	12: 30,034,570 (GRCm39)	T208A	probably benign	Het
Rab3gap1	C	T	1: 127,818,817 (GRCm39)	H116Y	probably damaging	Het
Rarb	T	A	14: 16,443,751 (GRCm38)	D179V	probably benign	Het
Rasal1	G	A	5: 120,813,488 (GRCm39)	A621T	probably damaging	Het
Rnf6	G	A	5: 146,147,717 (GRCm39)	R434C	probably damaging	Het
Scn10a	C	A	9: 119,464,568 (GRCm39)	E1011*	probably null	Het
Sec24d	C	T	3: 123,087,244 (GRCm39)	Q137*	probably null	Het
Slc35g1	C	A	19: 38,391,642 (GRCm39)	A308E	probably damaging	Het
Smtnl1	C	A	2: 84,649,089 (GRCm39)	C55F	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stt3a	A	T	9: 36,645,662 (GRCm39)	D676E	probably benign	Het
Sytl2	T	C	7: 90,031,047 (GRCm39)		probably benign	Het
Trabd2b	A	G	4: 114,266,117 (GRCm39)	T44A	probably damaging	Het
Trim12a	T	C	7: 103,953,360 (GRCm39)		probably benign	Het
Tti1	A	T	2: 157,849,618 (GRCm39)	D540E	probably benign	Het
Tubgcp6	A	G	15: 88,987,691 (GRCm39)	V1094A	probably benign	Het
Vmn1r34	A	G	6: 66,614,373 (GRCm39)	Y122H	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp579	T	A	7: 4,997,257 (GRCm39)	Q218L	possibly damaging	Het

Other mutations in Mc2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:Mc2r	APN	18	68,541,143 (GRCm39)	missense	probably benign	0.07
IGL02002:Mc2r	APN	18	68,540,505 (GRCm39)	missense	probably benign	0.00
PIT4366001:Mc2r	UTSW	18	68,540,826 (GRCm39)	missense	probably benign
R0276:Mc2r	UTSW	18	68,541,203 (GRCm39)	missense	possibly damaging	0.69
R1061:Mc2r	UTSW	18	68,540,880 (GRCm39)	missense	probably damaging	1.00
R1085:Mc2r	UTSW	18	68,540,417 (GRCm39)	missense	probably benign
R1610:Mc2r	UTSW	18	68,540,519 (GRCm39)	missense	probably damaging	1.00
R1688:Mc2r	UTSW	18	68,541,090 (GRCm39)	missense	possibly damaging	0.68
R1930:Mc2r	UTSW	18	68,540,853 (GRCm39)	missense	probably benign	0.00
R2184:Mc2r	UTSW	18	68,541,196 (GRCm39)	missense	probably benign	0.02
R2397:Mc2r	UTSW	18	68,541,224 (GRCm39)	missense	probably benign	0.00
R4913:Mc2r	UTSW	18	68,540,411 (GRCm39)	missense	probably benign
R5087:Mc2r	UTSW	18	68,541,274 (GRCm39)	missense	probably benign	0.01
R5506:Mc2r	UTSW	18	68,541,019 (GRCm39)	nonsense	probably null
R5781:Mc2r	UTSW	18	68,540,468 (GRCm39)	missense	probably damaging	1.00
R5781:Mc2r	UTSW	18	68,540,466 (GRCm39)	missense	possibly damaging	0.69
R6364:Mc2r	UTSW	18	68,540,607 (GRCm39)	missense	probably benign	0.00
R7908:Mc2r	UTSW	18	68,541,036 (GRCm39)	missense	probably benign	0.00
R8679:Mc2r	UTSW	18	68,540,879 (GRCm39)	missense	probably damaging	1.00
R9204:Mc2r	UTSW	18	68,540,667 (GRCm39)	missense	probably benign
R9307:Mc2r	UTSW	18	68,540,636 (GRCm39)	missense	probably benign	0.01
R9355:Mc2r	UTSW	18	68,541,195 (GRCm39)	missense	probably benign
Z1177:Mc2r	UTSW	18	68,540,783 (GRCm39)	missense	possibly damaging	0.50

Posted On

2014-05-07