Mutagenetix > Incidental Mutation

Incidental Mutation 'R5781:Mc2r'

447759

Institutional Source

Beutler Lab

Gene Symbol

Mc2r

Ensembl Gene

ENSMUSG00000045569

Gene Name

melanocortin 2 receptor

Synonyms

adrenocorticotropic hormone receptor, Acthr

MMRRC Submission

043378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68539978-68562391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68540468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 275 (I275K)

Ref Sequence

ENSEMBL: ENSMUSP00000058691 (fasta)

Gene Model

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

AlphaFold

Q64326

Predicted Effect

probably damaging
Transcript: ENSMUST00000052347
AA Change: I275K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: I275K

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

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,992,813 (GRCm39)	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,135,947 (GRCm39)	V283A	probably damaging	Het
Adamts19	G	T	18: 58,971,040 (GRCm39)	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,078,584 (GRCm39)	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,473,684 (GRCm39)	V773G	possibly damaging	Het
Arhgap10	G	T	8: 78,177,336 (GRCm39)	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,489,439 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,564,377 (GRCm39)	H277L	probably benign	Het
Ascc3	T	A	10: 50,514,074 (GRCm39)	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,234,024 (GRCm39)	V329G	probably benign	Het
Col14a1	A	G	15: 55,286,908 (GRCm39)	T910A	unknown	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dsc2	A	G	18: 20,165,567 (GRCm39)	I846T	probably benign	Het
Evc	A	T	5: 37,483,914 (GRCm39)	S129T	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fyco1	A	G	9: 123,623,898 (GRCm39)	V1377A	probably damaging	Het
Haus6	C	T	4: 86,519,500 (GRCm39)	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,253,712 (GRCm39)	D23A	probably damaging	Het
Hpdl	C	T	4: 116,677,775 (GRCm39)	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,810,518 (GRCm39)	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,454,866 (GRCm39)	P59S	probably damaging	Het
Itpr1	G	A	6: 108,487,699 (GRCm39)	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,759,139 (GRCm39)	Y114*	probably null	Het
Mlycd	A	G	8: 120,137,019 (GRCm39)	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,957,455 (GRCm39)	S86R	probably damaging	Het
Msx2	C	A	13: 53,626,644 (GRCm39)	A35S	probably benign	Het
Or6c201	A	T	10: 128,969,016 (GRCm39)	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,135,504 (GRCm39)	S390I	probably damaging	Het
Plcl1	C	T	1: 55,735,148 (GRCm39)	A163V	possibly damaging	Het
Pnn	T	C	12: 59,118,605 (GRCm39)	V396A	probably damaging	Het
Rbmxl1	G	A	8: 79,232,270 (GRCm39)		probably benign	Het
Recql	G	T	6: 142,311,344 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,089 (GRCm39)	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,999,716 (GRCm39)	T754M	probably benign	Het
Sctr	A	G	1: 119,959,350 (GRCm39)	T98A	probably damaging	Het
Sdk1	T	A	5: 141,921,803 (GRCm39)	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,684,034 (GRCm39)	I264K	possibly damaging	Het
Spag6	A	G	2: 18,736,804 (GRCm39)	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,871,127 (GRCm39)	T297P	probably benign	Het
Tgfb1	A	G	7: 25,396,385 (GRCm39)	D226G	probably benign	Het
Ubr3	G	T	2: 69,846,588 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,195,407 (GRCm39)	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,831,938 (GRCm39)	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,181 (GRCm39)	A2286S	probably damaging	Het
Zcchc14	A	T	8: 122,331,332 (GRCm39)		probably benign	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	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
R5506:Mc2r	UTSW	18	68,541,019 (GRCm39)	nonsense	probably null
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'- AGGCAGTTATGGTAAACACTAGTC -3'
(R):5'- CCATGCTAGGAAGATCTCTACCC -3'

Sequencing Primer
(F):5'- AGTCAGTGGGACTGAACT -3'
(R):5'- CTTCCTAGAACCAACATGAAGGGTG -3'

Posted On

2016-12-15