Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Mc2r'

215317

Institutional Source

Beutler Lab

Gene Symbol

Mc2r

Ensembl Gene

ENSMUSG00000045569

Gene Name

melanocortin 2 receptor

Synonyms

adrenocorticotropic hormone receptor, Acthr

MMRRC Submission

039948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68539978-68562391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68540853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 147 (T147S)

Ref Sequence

ENSEMBL: ENSMUSP00000058691 (fasta)

Gene Model

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

AlphaFold

Q64326

Predicted Effect

probably benign
Transcript: ENSMUST00000052347
AA Change: T147S

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

SMART Domains

Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: T147S

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,540 (GRCm39)	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,450,519 (GRCm39)	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Ago2	A	T	15: 72,991,204 (GRCm39)	I578N	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Cep152	A	T	2: 125,460,291 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,683,563 (GRCm39)	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,219,014 (GRCm39)	W535*	probably null	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Daam2	A	T	17: 49,769,241 (GRCm39)		probably null	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,500,476 (GRCm39)	S91R	probably benign	Het
H2-Oa	A	T	17: 34,312,873 (GRCm39)	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 118,485,643 (GRCm39)	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Ice1	A	T	13: 70,753,202 (GRCm39)	S961R	probably benign	Het
Ift20	G	A	11: 78,430,830 (GRCm39)	V58I	possibly damaging	Het
Ippk	T	A	13: 49,603,494 (GRCm39)	F367I	probably damaging	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,154,383 (GRCm39)	N35K	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Magi3	A	T	3: 103,996,920 (GRCm39)	D208E	probably damaging	Het
Mfsd4b1	C	A	10: 39,882,070 (GRCm39)	A72S	probably benign	Het
Msln	A	T	17: 25,970,896 (GRCm39)	N150K	probably damaging	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Or4c3	G	A	2: 89,851,505 (GRCm39)	R302C	probably benign	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Pcnx2	C	A	8: 126,614,453 (GRCm39)	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,366,733 (GRCm39)	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Scgb2b20	T	C	7: 33,065,621 (GRCm39)		probably null	Het
Sdr16c6	A	G	4: 4,058,809 (GRCm39)	V259A	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc51b	T	A	9: 65,322,478 (GRCm39)	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
Specc1l	A	G	10: 75,145,658 (GRCm39)	D1101G	probably damaging	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tdg	T	A	10: 82,477,378 (GRCm39)	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,066,717 (GRCm39)	F174L	probably damaging	Het
Ttn	C	T	2: 76,553,193 (GRCm39)	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp60	T	A	7: 27,436,382 (GRCm39)	M1K	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTCCTAGCATGGGAGCG -3'
(R):5'- ATGTTGGGCAGTCTGTATAAGATC -3'

Sequencing Primer
(F):5'- CGGGCAAGTAAGAACATGTG -3'
(R):5'- GGAAAACATCCTGATCATGTTCAG -3'

Posted On

2014-07-14