Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Mc4r'

678140

Institutional Source

Beutler Lab

Gene Symbol

Mc4r

Ensembl Gene

ENSMUSG00000047259

Gene Name

melanocortin 4 receptor

Synonyms

Pkcp, Fatboy

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66990776-66993558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66992304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 270 (S270P)

Ref Sequence

ENSEMBL: ENSMUSP00000054776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057942]

AlphaFold

P56450

Predicted Effect

probably damaging
Transcript: ENSMUST00000057942
AA Change: S270P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: S270P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	51	228	8.1e-11	PFAM
Pfam:7TM_GPCR_Srsx	55	317	6e-12	PFAM
Pfam:7tm_1	61	302	2.7e-31	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis. Disruption of this gene promotes hyperphagia and obesity, and is associated with increased cholesterol levels and insulin resistance. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mutations in this gene result in hyperglycemia and weight gain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Ap4b1	A	T	3: 103,729,065 (GRCm39)	I736L	probably benign	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cacna1s	C	G	1: 136,045,392 (GRCm39)	T1680S	probably benign	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Myh4	G	A	11: 67,137,362 (GRCm39)	E528K	possibly damaging	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sez6l	C	A	5: 112,588,744 (GRCm39)	Q656H	possibly damaging	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tab2	T	C	10: 7,786,897 (GRCm39)	D605G	probably damaging	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Thap12	T	C	7: 98,364,534 (GRCm39)	M234T	probably benign	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	Het

Other mutations in Mc4r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Mc4r	APN	18	66,992,229 (GRCm39)	missense	probably benign	0.01
IGL01382:Mc4r	APN	18	66,992,864 (GRCm39)	missense	probably damaging	0.96
IGL01820:Mc4r	APN	18	66,992,226 (GRCm39)	missense	probably benign	0.00
IGL02749:Mc4r	APN	18	66,992,733 (GRCm39)	missense	probably damaging	1.00
IGL02812:Mc4r	APN	18	66,992,318 (GRCm39)	missense	probably damaging	1.00
IGL03403:Mc4r	APN	18	66,992,597 (GRCm39)	missense	possibly damaging	0.61
Big_boned	UTSW	18	66,992,559 (GRCm39)	missense	probably damaging	1.00
Big_mac	UTSW	18	66,992,927 (GRCm39)	missense	probably damaging	1.00
blubbery	UTSW	18	66,992,253 (GRCm39)	missense	probably damaging	1.00
Cetacean	UTSW	18	66,992,251 (GRCm39)	nonsense	probably null
chubby	UTSW	18	66,992,918 (GRCm39)	missense	probably damaging	1.00
halloween	UTSW	18	66,992,892 (GRCm39)	missense	probably damaging	1.00
Leviathan	UTSW	18	66,993,110 (GRCm39)	start codon destroyed	probably null	0.49
southbeach	UTSW	18	66,992,213 (GRCm39)	missense	probably damaging	1.00
R1552:Mc4r	UTSW	18	66,992,766 (GRCm39)	missense	probably benign	0.00
R1623:Mc4r	UTSW	18	66,993,068 (GRCm39)	missense	probably benign	0.03
R1666:Mc4r	UTSW	18	66,992,480 (GRCm39)	missense	probably damaging	1.00
R1668:Mc4r	UTSW	18	66,992,480 (GRCm39)	missense	probably damaging	1.00
R1781:Mc4r	UTSW	18	66,992,918 (GRCm39)	missense	probably damaging	1.00
R1873:Mc4r	UTSW	18	66,992,531 (GRCm39)	missense	probably damaging	1.00
R2105:Mc4r	UTSW	18	66,992,669 (GRCm39)	missense	probably damaging	1.00
R2210:Mc4r	UTSW	18	66,992,466 (GRCm39)	missense	probably damaging	1.00
R3714:Mc4r	UTSW	18	66,992,892 (GRCm39)	missense	probably damaging	1.00
R3715:Mc4r	UTSW	18	66,992,892 (GRCm39)	missense	probably damaging	1.00
R4115:Mc4r	UTSW	18	66,993,050 (GRCm39)	missense	probably benign
R4322:Mc4r	UTSW	18	66,992,121 (GRCm39)	missense	probably benign	0.00
R4492:Mc4r	UTSW	18	66,992,711 (GRCm39)	missense	probably benign	0.00
R4806:Mc4r	UTSW	18	66,992,559 (GRCm39)	missense	probably damaging	1.00
R4877:Mc4r	UTSW	18	66,992,409 (GRCm39)	missense	probably benign	0.00
R6161:Mc4r	UTSW	18	66,992,251 (GRCm39)	nonsense	probably null
R6802:Mc4r	UTSW	18	66,992,488 (GRCm39)	missense	probably benign	0.21
R6807:Mc4r	UTSW	18	66,992,927 (GRCm39)	missense	probably damaging	1.00
R6929:Mc4r	UTSW	18	66,992,253 (GRCm39)	missense	probably damaging	1.00
R7623:Mc4r	UTSW	18	66,992,580 (GRCm39)	missense	probably benign	0.32
R8292:Mc4r	UTSW	18	66,993,082 (GRCm39)	nonsense	probably null
R8560:Mc4r	UTSW	18	66,992,166 (GRCm39)	missense	possibly damaging	0.60
R8943:Mc4r	UTSW	18	66,993,110 (GRCm39)	start codon destroyed	probably null	0.49

Predicted Primers

PCR Primer
(F):5'- ACAAAGTCTGCAGGTATCTACC -3'
(R):5'- ACATGTTCCTGATGGCGAGG -3'

Sequencing Primer
(F):5'- TGCTAGACAACTCACAGATGC -3'
(R):5'- GCTTCACATTAAGAGGATTGCTGTCC -3'

Posted On

2021-08-02