Incidental Mutation 'R4598:Mrap2'
ID 345366
Institutional Source Beutler Lab
Gene Symbol Mrap2
Ensembl Gene ENSMUSG00000042761
Gene Name melanocortin 2 receptor accessory protein 2
Synonyms
MMRRC Submission 041814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4598 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 87026359-87066098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87064842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 194 (E194D)
Ref Sequence ENSEMBL: ENSMUSP00000135904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049457] [ENSMUST00000113149] [ENSMUST00000179313]
AlphaFold D3Z1Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000049457
AA Change: E194D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046271
Gene: ENSMUSG00000042761
AA Change: E194D

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113149
AA Change: E194D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108774
Gene: ENSMUSG00000042761
AA Change: E194D

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179313
AA Change: E194D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135904
Gene: ENSMUSG00000042761
AA Change: E194D

DomainStartEndE-ValueType
Pfam:MRAP 15 101 4.5e-38 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G A 1: 11,818,188 (GRCm39) probably null Het
Abca14 T C 7: 119,854,626 (GRCm39) V930A probably benign Het
Abcb7 A C X: 103,366,988 (GRCm39) D135E probably benign Het
Ace T A 11: 105,872,585 (GRCm39) probably null Het
Acnat1 T C 4: 49,450,781 (GRCm39) D110G probably benign Het
Ak9 C T 10: 41,259,907 (GRCm39) P862S probably damaging Het
Atp1a3 A G 7: 24,678,766 (GRCm39) S972P probably damaging Het
Bmf C A 2: 118,379,609 (GRCm39) A56S probably benign Het
C6 T C 15: 4,792,852 (GRCm39) L319P possibly damaging Het
Cab39 A G 1: 85,776,050 (GRCm39) Y249C probably damaging Het
Cdc14b T C 13: 64,395,088 (GRCm39) T69A probably benign Het
Cep162 A G 9: 87,085,848 (GRCm39) Y1159H possibly damaging Het
Chrna7 A G 7: 62,753,538 (GRCm39) M327T probably damaging Het
Clca3a2 A T 3: 144,511,444 (GRCm39) N41K probably damaging Het
Clock T C 5: 76,383,657 (GRCm39) M499V probably benign Het
Col5a3 A G 9: 20,685,855 (GRCm39) probably null Het
Coq6 T C 12: 84,408,913 (GRCm39) V30A probably benign Het
Cyp3a57 A G 5: 145,327,227 (GRCm39) I473V probably benign Het
D430041D05Rik A T 2: 104,038,528 (GRCm39) V1547D probably damaging Het
Dhx9 TCC TC 1: 153,342,797 (GRCm39) probably null Het
Dock2 T A 11: 34,189,536 (GRCm39) Y1545F probably damaging Het
Eif4e3 T A 6: 99,617,671 (GRCm39) I67L probably benign Het
Epor A G 9: 21,873,155 (GRCm39) S86P probably benign Het
Esp31 T A 17: 38,952,012 (GRCm39) probably null Het
Esrp2 A G 8: 106,859,343 (GRCm39) M498T probably damaging Het
F5 T C 1: 164,032,366 (GRCm39) I1771T probably benign Het
Fancd2 C A 6: 113,562,438 (GRCm39) H1259Q probably benign Het
Gale C A 4: 135,695,148 (GRCm39) S341* probably null Het
Ints12 T A 3: 132,804,214 (GRCm39) I67N probably benign Het
Kat2b A G 17: 53,977,826 (GRCm39) Y791C probably benign Het
Kazn A G 4: 141,937,403 (GRCm39) V108A possibly damaging Het
Kcnma1 T C 14: 23,853,228 (GRCm39) T109A probably damaging Het
Med13 T C 11: 86,169,392 (GRCm39) T1955A probably damaging Het
Megf10 G A 18: 57,322,675 (GRCm39) probably null Het
Megf10 A T 18: 57,420,884 (GRCm39) S841C probably damaging Het
Mep1a A G 17: 43,802,469 (GRCm39) probably null Het
Msh2 A G 17: 88,016,006 (GRCm39) K546R probably damaging Het
Ndc80 T C 17: 71,828,063 (GRCm39) D88G probably damaging Het
Nrip1 A G 16: 76,089,968 (GRCm39) F530L probably damaging Het
Or2y10 T C 11: 49,455,545 (GRCm39) S266P probably damaging Het
Or52e7 A C 7: 104,685,280 (GRCm39) I292L probably benign Het
Or6c216 T C 10: 129,678,864 (GRCm39) T16A possibly damaging Het
Or9i16 A T 19: 13,865,381 (GRCm39) H64Q probably damaging Het
Oxtr C T 6: 112,466,713 (GRCm39) G16R probably benign Het
Pdgfrb A T 18: 61,201,829 (GRCm39) K464N probably benign Het
Pja2 A T 17: 64,620,025 (GRCm39) M1K probably null Het
Pkhd1 A T 1: 20,573,280 (GRCm39) N1875K probably damaging Het
Pogz T C 3: 94,787,491 (GRCm39) S1360P possibly damaging Het
Proc A T 18: 32,256,512 (GRCm39) L385Q probably damaging Het
Ptprm A G 17: 67,402,492 (GRCm39) I132T probably benign Het
Rpgr A G X: 10,062,255 (GRCm39) S343P probably benign Het
Rsu1 T C 2: 13,174,815 (GRCm39) Y225C probably damaging Het
Scyl1 A G 19: 5,820,481 (GRCm39) S118P probably damaging Het
Sec61a1 T C 6: 88,483,131 (GRCm39) N414D probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sema7a A G 9: 57,860,834 (GRCm39) D65G probably benign Het
Slc25a45 A G 19: 5,934,464 (GRCm39) Y144C probably damaging Het
Slc26a6 A G 9: 108,733,579 (GRCm39) Y103C probably damaging Het
Stat3 C T 11: 100,794,500 (GRCm39) D270N probably damaging Het
Taar8b T C 10: 23,967,736 (GRCm39) S153G probably benign Het
Top1 A G 2: 160,562,885 (GRCm39) E697G possibly damaging Het
Trappc11 G A 8: 47,966,801 (GRCm39) T470I probably damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Usp29 A G 7: 6,965,479 (GRCm39) T441A probably benign Het
Vmn2r110 A T 17: 20,804,029 (GRCm39) L182* probably null Het
Zgrf1 T C 3: 127,394,679 (GRCm39) I1345T probably benign Het
Zscan25 G T 5: 145,227,815 (GRCm39) R493L 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
R5118:Mrap2 UTSW 9 87,064,756 (GRCm39) missense possibly damaging 0.82
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'- AGCCATCGACAGTGATGTCC -3'
(R):5'- ACATCCCAGTCCTAGCCTAGTC -3'

Sequencing Primer
(F):5'- AGTGATGTCCACCTCCAGGAAG -3'
(R):5'- AGTCCTAGCCTAGTCCTCTCC -3'
Posted On 2015-09-25