Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Mc2r'

183090

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 #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

68539978-68562391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68540505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 263 (M263L)

Ref Sequence

ENSEMBL: ENSMUSP00000058691 (fasta)

Gene Model

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

AlphaFold

Q64326

Predicted Effect

probably benign
Transcript: ENSMUST00000052347
AA Change: M263L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: M263L

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Akap8	A	G	17: 32,528,470 (GRCm39)	C481R	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,563,421 (GRCm39)	T124M	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,541,800 (GRCm39)	F176L	probably damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Metap1	T	A	3: 138,168,150 (GRCm39)	T325S	probably damaging	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Pdilt	A	T	7: 119,099,667 (GRCm39)	F200L	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Tsen2	T	C	6: 115,536,568 (GRCm39)	V108A	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	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
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