Incidental Mutation 'R1061:Mc2r'
ID 94563
Institutional Source Beutler Lab
Gene Symbol Mc2r
Ensembl Gene ENSMUSG00000045569
Gene Name melanocortin 2 receptor
Synonyms adrenocorticotropic hormone receptor, Acthr
MMRRC Submission 039147-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1061 (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 T at 68540880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 138 (Y138N)
Ref Sequence ENSEMBL: ENSMUSP00000058691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052347]
AlphaFold Q64326
Predicted Effect probably damaging
Transcript: ENSMUST00000052347
AA Change: Y138N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058691
Gene: ENSMUSG00000045569
AA Change: Y138N

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,108,153 (GRCm39) A715T probably benign Het
Ampd2 A G 3: 107,983,005 (GRCm39) Y641H probably damaging Het
Aqp4 A T 18: 15,531,248 (GRCm39) V171E probably damaging Het
Arid4a T A 12: 71,121,729 (GRCm39) S381R probably damaging Het
Armc8 T G 9: 99,419,784 (GRCm39) N51H probably damaging Het
Asic5 T A 3: 81,928,308 (GRCm39) Y424N probably damaging Het
Bcl11a A T 11: 24,114,069 (GRCm39) K471* probably null Het
Birc6 A G 17: 74,996,307 (GRCm39) T4494A probably damaging Het
Btbd9 A G 17: 30,746,409 (GRCm39) I139T probably benign Het
Ccdc60 C A 5: 116,310,527 (GRCm39) R178S possibly damaging Het
Cd163 C T 6: 124,286,128 (GRCm39) A226V probably benign Het
Cibar2 C A 8: 120,896,443 (GRCm39) probably null Het
Cog1 T G 11: 113,542,863 (GRCm39) S170A probably benign Het
Cwc15 T C 9: 14,419,211 (GRCm39) L169P probably damaging Het
Cyp3a25 A T 5: 145,923,643 (GRCm39) D333E probably benign Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Dlc1 T A 8: 37,325,205 (GRCm39) T367S probably benign Het
Dnah17 T C 11: 117,943,514 (GRCm39) D3183G possibly damaging Het
Eif2a T A 3: 58,452,486 (GRCm39) Y165* probably null Het
Eml6 T C 11: 29,727,267 (GRCm39) D1285G probably damaging Het
Fasn T C 11: 120,713,008 (GRCm39) probably null Het
Fbn1 T C 2: 125,187,883 (GRCm39) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 190,740,370 (GRCm39) V550E probably benign Het
Gcm2 A G 13: 41,259,347 (GRCm39) W41R probably damaging Het
Gli2 A T 1: 118,782,247 (GRCm39) M160K possibly damaging Het
Gpr61 C T 3: 108,057,623 (GRCm39) R346H probably damaging Het
Hoxa5 A T 6: 52,181,135 (GRCm39) S66T probably benign Het
Hsph1 A T 5: 149,541,883 (GRCm39) V781D possibly damaging Het
Kdm3b G A 18: 34,929,915 (GRCm39) V220M probably damaging Het
Klhl25 T A 7: 75,516,268 (GRCm39) Y391* probably null Het
Mtap C A 4: 89,074,821 (GRCm39) D106E probably benign Het
Nup43 G T 10: 7,543,435 (GRCm39) W37L probably damaging Het
Nxpe2 T A 9: 48,237,663 (GRCm39) E197D probably damaging Het
Odad1 T C 7: 45,591,179 (GRCm39) I218T probably damaging Het
Or10d1c C A 9: 38,893,779 (GRCm39) C187F probably damaging Het
Or55b4 T A 7: 102,133,321 (GRCm39) *335C probably null Het
Or5p60 T C 7: 107,723,663 (GRCm39) Y269C probably damaging Het
Or8h8 A T 2: 86,753,126 (GRCm39) V250D possibly damaging Het
Pitrm1 A G 13: 6,605,611 (GRCm39) H186R probably damaging Het
Pklr C T 3: 89,052,188 (GRCm39) R467C probably damaging Het
Plxna2 A G 1: 194,326,401 (GRCm39) N112D probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp3cb A C 14: 20,558,682 (GRCm39) probably null Het
R3hcc1l C T 19: 42,571,865 (GRCm39) R135* probably null Het
Ralyl A C 3: 14,180,761 (GRCm39) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
S100a1 T C 3: 90,418,619 (GRCm39) N65S probably damaging Het
Scn11a A T 9: 119,624,729 (GRCm39) M531K probably damaging Het
Slc5a5 T A 8: 71,342,865 (GRCm39) M232L probably benign Het
Tet3 A T 6: 83,350,305 (GRCm39) N1054K probably damaging Het
Tg A G 15: 66,570,408 (GRCm39) N1427D probably benign Het
Tns1 A C 1: 73,956,831 (GRCm39) V530G probably damaging Het
Trcg1 C A 9: 57,153,156 (GRCm39) Q600K possibly damaging Het
Tshz3 A G 7: 36,468,131 (GRCm39) E40G probably damaging Het
Usp34 T C 11: 23,334,420 (GRCm39) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,038,603 (GRCm39) T726I probably benign Het
Vmn2r97 A T 17: 19,148,440 (GRCm39) R112* probably null Het
Vwa2 G T 19: 56,897,426 (GRCm39) R577L probably benign Het
Vwa3b A C 1: 37,196,511 (GRCm39) Q46P probably damaging Het
Wdr25 T A 12: 108,958,725 (GRCm39) probably null Het
Wrap53 A G 11: 69,453,226 (GRCm39) L405P probably damaging Het
Zfp629 C A 7: 127,211,161 (GRCm39) W216L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CATGCCATTGACCTGGAAGAGAGAC -3'
(R):5'- AACTTGATTGTCCTCCTGGCTGTG -3'

Sequencing Primer
(F):5'- AGATCTTCCTAGCATGGGAGC -3'
(R):5'- ACATGTTGGGCAGTCTGTATAAG -3'
Posted On 2014-01-05