Mutagenetix > Incidental Mutation

Incidental Mutation 'R5506:Mc2r'

430949

Institutional Source

Beutler Lab

Gene Symbol

Mc2r

Ensembl Gene

ENSMUSG00000045569

Gene Name

melanocortin 2 receptor

Synonyms

adrenocorticotropic hormone receptor, Acthr

MMRRC Submission

043067-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68539978-68562391 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 68541019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 91 (Y91*)

Ref Sequence

ENSEMBL: ENSMUSP00000058691 (fasta)

Gene Model

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

AlphaFold

Q64326

Predicted Effect

probably null
Transcript: ENSMUST00000052347
AA Change: Y91*

SMART Domains

Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: Y91*

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (53/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,773,708 (GRCm39)	G966W	probably damaging	Het
A930009A15Rik	G	T	10: 115,414,267 (GRCm39)		probably null	Het
Cant1	G	T	11: 118,302,268 (GRCm39)	H16Q	probably benign	Het
Capn3	G	T	2: 120,332,901 (GRCm39)	V612F	probably damaging	Het
Cep112	A	T	11: 108,555,429 (GRCm39)	E141D	probably damaging	Het
Cept1	A	G	3: 106,438,564 (GRCm39)	V173A	probably benign	Het
CN725425	A	G	15: 91,120,029 (GRCm39)	D50G	possibly damaging	Het
Cubn	A	T	2: 13,496,506 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dpp8	A	G	9: 64,985,391 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,169 (GRCm39)	T377I	probably benign	Het
Exosc8	A	G	3: 54,638,600 (GRCm39)		probably benign	Het
Fasn	C	T	11: 120,700,336 (GRCm39)	D2165N	probably benign	Het
Gab2	A	G	7: 96,952,320 (GRCm39)	E571G	probably damaging	Het
Galnt5	C	A	2: 57,889,637 (GRCm39)	H412Q	probably benign	Het
Galr1	T	A	18: 82,423,989 (GRCm39)	Y96F	possibly damaging	Het
Garin1b	G	A	6: 29,319,297 (GRCm39)	E34K	probably damaging	Het
Gnl2	C	A	4: 124,949,158 (GRCm39)		probably benign	Het
H2ac22	A	C	13: 21,971,081 (GRCm39)	I103S	probably damaging	Het
H2ax	T	C	9: 44,246,402 (GRCm39)	V115A	probably benign	Het
Heatr9	T	C	11: 83,405,592 (GRCm39)	N317S	possibly damaging	Het
Kndc1	A	G	7: 139,507,804 (GRCm39)	Y1254C	probably damaging	Het
Lrp6	A	T	6: 134,436,259 (GRCm39)	D1302E	probably benign	Het
Meis1	T	G	11: 18,891,747 (GRCm39)	D267A	possibly damaging	Het
Mki67	T	C	7: 135,301,710 (GRCm39)	K1108R	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh3	T	G	11: 66,974,915 (GRCm39)	D219E	probably damaging	Het
Niban2	G	A	2: 32,810,994 (GRCm39)	V335M	probably damaging	Het
Or10g1b	T	C	14: 52,628,084 (GRCm39)	I49V	probably damaging	Het
Or7e166	T	C	9: 19,624,570 (GRCm39)	L149P	possibly damaging	Het
Pi4ka	A	G	16: 17,111,817 (GRCm39)	C1553R	probably damaging	Het
Plekhb1	C	A	7: 100,294,150 (GRCm39)		probably null	Het
Polr3d	A	T	14: 70,678,199 (GRCm39)	D165E	possibly damaging	Het
Prb1c	T	C	6: 132,338,819 (GRCm39)	N133S	unknown	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Rab11fip5	A	G	6: 85,351,119 (GRCm39)	L131P	probably damaging	Het
Raph1	A	T	1: 60,532,657 (GRCm39)		probably benign	Het
Rmc1	A	G	18: 12,322,013 (GRCm39)		probably benign	Het
Scgb2b27	T	G	7: 33,711,484 (GRCm39)		probably benign	Het
Serpina10	T	C	12: 103,592,920 (GRCm39)	D264G	probably damaging	Het
Sftpb	A	G	6: 72,281,651 (GRCm39)	T15A	possibly damaging	Het
Slc20a1	T	C	2: 129,052,739 (GRCm39)	F674L	probably benign	Het
Syne2	A	T	12: 75,985,495 (GRCm39)	N1648Y	probably benign	Het
Thsd7a	G	T	6: 12,332,016 (GRCm39)	N1265K	possibly damaging	Het
Trem2	T	C	17: 48,658,802 (GRCm39)	L189P	probably benign	Het
Washc4	A	T	10: 83,417,201 (GRCm39)	R865S	probably damaging	Het
Zfp536	A	G	7: 37,268,217 (GRCm39)	S400P	probably 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
IGL01866:Mc2r	APN	18	68,540,494 (GRCm39)	missense	possibly damaging	0.81
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTGTGCAGAACATCCAG -3'
(R):5'- TGTCCTGATGTAGTTTTGCCAGAAG -3'

Sequencing Primer
(F):5'- CCTGTGCAGAACATCCAGATAATTG -3'
(R):5'- TGCCAGAAGAGATATTTTTCACAATC -3'

Posted On

2016-10-05