Incidental Mutation 'R1610:Mc2r'
ID 176765
Institutional Source Beutler Lab
Gene Symbol Mc2r
Ensembl Gene ENSMUSG00000045569
Gene Name melanocortin 2 receptor
Synonyms adrenocorticotropic hormone receptor, Acthr
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 68539978-68562391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68540519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 258 (F258S)
Ref Sequence ENSEMBL: ENSMUSP00000058691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052347]
AlphaFold Q64326
Predicted Effect probably damaging
Transcript: ENSMUST00000052347
AA Change: F258S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: F258S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 291 2.4e-13 PFAM
Pfam:7tm_1 41 276 1.1e-29 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign Het
Other mutations in Mc2r
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GGCCTCCCAATGACAGTTTTCACAG -3'
(R):5'- ACAGTGCTCACCTTCACATCGC -3'

Sequencing Primer
(F):5'- TCACTGGTACATGTCAGACTG -3'
(R):5'- ACATCCACATGTTCTTACTTGC -3'
Posted On 2014-04-24