Incidental Mutation 'R5118:Mrap2'
ID 392747
Institutional Source Beutler Lab
Gene Symbol Mrap2
Ensembl Gene ENSMUSG00000042761
Gene Name melanocortin 2 receptor accessory protein 2
Synonyms
MMRRC Submission 042706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5118 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 87026359-87066098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87064756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 166 (F166L)
Ref Sequence ENSEMBL: ENSMUSP00000135904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049457] [ENSMUST00000113149] [ENSMUST00000179313]
AlphaFold D3Z1Q2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049457
AA Change: F166L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046271
Gene: ENSMUSG00000042761
AA Change: F166L

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113149
AA Change: F166L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108774
Gene: ENSMUSG00000042761
AA Change: F166L

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179313
AA Change: F166L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135904
Gene: ENSMUSG00000042761
AA Change: F166L

DomainStartEndE-ValueType
Pfam:MRAP 15 101 4.5e-38 PFAM
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe obesity at a young age. Obesity develops early during ad libitum feeding before the onset of hyperphagia, persists in mutant mice pair-fed to a normal dietary intake, and is abolished only by underfeeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adamts2 A G 11: 50,672,696 (GRCm39) E648G probably damaging Het
Ankrd55 A G 13: 112,492,473 (GRCm39) S187G probably benign Het
Cd44 C A 2: 102,695,715 (GRCm39) E52D probably damaging Het
Col6a5 T A 9: 105,814,204 (GRCm39) I603F unknown Het
Dmxl2 C A 9: 54,368,271 (GRCm39) R233L probably damaging Het
Dop1a T C 9: 86,388,312 (GRCm39) F429L probably damaging Het
Epsti1 T G 14: 78,224,122 (GRCm39) probably null Het
Erfe G T 1: 91,298,438 (GRCm39) probably null Het
Galnt5 A G 2: 57,905,015 (GRCm39) D526G probably damaging Het
Gatd1 A T 7: 140,986,719 (GRCm39) probably benign Het
Gm1330 T C 2: 148,844,906 (GRCm39) probably benign Het
Gm6181 G A 7: 52,405,364 (GRCm39) noncoding transcript Het
Irak2 T A 6: 113,642,772 (GRCm39) V68D probably benign Het
Kdm1a A G 4: 136,284,669 (GRCm39) probably benign Het
Kidins220 C A 12: 25,042,296 (GRCm39) Q198K probably damaging Het
Lgr5 A G 10: 115,288,244 (GRCm39) V728A possibly damaging Het
Micall2 G A 5: 139,702,202 (GRCm39) T347M probably damaging Het
Msh3 A T 13: 92,445,942 (GRCm39) probably benign Het
Mul1 T A 4: 138,166,660 (GRCm39) L238Q probably damaging Het
Nuak1 G T 10: 84,210,848 (GRCm39) H413Q probably benign Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Pcnt C T 10: 76,248,002 (GRCm39) A931T probably damaging Het
Pramel20 T C 4: 143,297,697 (GRCm39) L39P probably damaging Het
Pramel34 T A 5: 93,785,656 (GRCm39) D208V probably benign Het
Psmb4 T C 3: 94,792,253 (GRCm39) Y223C probably damaging Het
Rbm15b G T 9: 106,763,301 (GRCm39) A289E possibly damaging Het
Reg3b T A 6: 78,349,111 (GRCm39) V79E probably damaging Het
Rsl1 A G 13: 67,330,045 (GRCm39) I164M probably damaging Het
Rtp1 T C 16: 23,250,285 (GRCm39) F217L probably benign Het
Sfmbt1 T C 14: 30,512,727 (GRCm39) L360P probably damaging Het
Sorbs2 T C 8: 46,248,822 (GRCm39) V611A probably damaging Het
Tenm4 T A 7: 96,542,293 (GRCm39) D1935E probably damaging Het
Tep1 T C 14: 51,093,044 (GRCm39) probably null Het
Tmppe T G 9: 114,234,549 (GRCm39) S283A probably benign Het
Tmtc1 A G 6: 148,171,485 (GRCm39) probably benign Het
Trp63 T C 16: 25,707,760 (GRCm39) I552T unknown Het
Tspan2 C A 3: 102,657,151 (GRCm39) D45E probably benign Het
Tut4 T A 4: 108,377,489 (GRCm39) D966E possibly damaging Het
Ubr1 T C 2: 120,712,745 (GRCm39) E1396G probably benign Het
Usp17lc A T 7: 103,067,868 (GRCm39) T388S probably benign Het
Wdr46 T C 17: 34,167,811 (GRCm39) V508A possibly damaging Het
Zfp462 T A 4: 55,010,667 (GRCm39) Y878N probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp954 T A 7: 7,118,714 (GRCm39) T277S probably benign Het
Other mutations in Mrap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
bigbear UTSW 9 87,051,712 (GRCm39) critical splice donor site probably null
R0790:Mrap2 UTSW 9 87,064,835 (GRCm39) missense possibly damaging 0.74
R4598:Mrap2 UTSW 9 87,064,842 (GRCm39) missense probably damaging 1.00
R5949:Mrap2 UTSW 9 87,064,658 (GRCm39) missense probably benign 0.02
R6144:Mrap2 UTSW 9 87,057,871 (GRCm39) missense probably damaging 1.00
R6925:Mrap2 UTSW 9 87,064,527 (GRCm39) missense possibly damaging 0.52
R8312:Mrap2 UTSW 9 87,051,712 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGCTTTGTGTCAGACTTCGG -3'
(R):5'- CTTGCTGTACAGAGACAGAACAC -3'

Sequencing Primer
(F):5'- CAGACAAGGTGTTTTCTCGTCAG -3'
(R):5'- CATCCTCAGTAAGGCACAAGTGTC -3'
Posted On 2016-06-15