Incidental Mutation 'R6144:Mrap2'
ID 488744
Institutional Source Beutler Lab
Gene Symbol Mrap2
Ensembl Gene ENSMUSG00000042761
Gene Name melanocortin 2 receptor accessory protein 2
Synonyms
MMRRC Submission 044291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6144 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 87026359-87066098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87057871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
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: V53A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046271
Gene: ENSMUSG00000042761
AA Change: V53A

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113149
AA Change: V53A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108774
Gene: ENSMUSG00000042761
AA Change: V53A

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179313
AA Change: V53A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135904
Gene: ENSMUSG00000042761
AA Change: V53A

DomainStartEndE-ValueType
Pfam:MRAP 15 101 4.5e-38 PFAM
Meta Mutation Damage Score 0.1470 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (65/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A T 2: 150,186,564 (GRCm39) D40E possibly damaging Het
4921517D22Rik C T 13: 59,837,347 (GRCm39) R246H probably damaging Het
Agbl1 A G 7: 76,069,832 (GRCm39) T203A probably benign Het
Alms1 T A 6: 85,600,056 (GRCm39) D2096E probably damaging Het
Ankrd53 T C 6: 83,739,639 (GRCm39) probably benign Het
Arap3 C A 18: 38,118,486 (GRCm39) G814C probably damaging Het
Armc9 T G 1: 86,172,301 (GRCm39) I5S probably benign Het
Catsperg1 T C 7: 28,910,120 (GRCm39) T74A probably damaging Het
Cdca7l T A 12: 117,837,446 (GRCm39) probably null Het
Cfhr2 T A 1: 139,733,153 (GRCm39) probably benign Het
Chpt1 A G 10: 88,288,955 (GRCm39) probably benign Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Col7a1 C T 9: 108,803,148 (GRCm39) R2149C unknown Het
Cpa4 T C 6: 30,585,082 (GRCm39) S289P probably damaging Het
Cpsf3 G A 12: 21,356,887 (GRCm39) probably null Het
Creb3l1 T C 2: 91,822,350 (GRCm39) H212R possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c29 A G 19: 39,310,053 (GRCm39) D254G possibly damaging Het
Dennd1b A G 1: 139,008,993 (GRCm39) H232R probably damaging Het
Dhx29 T C 13: 113,101,105 (GRCm39) L1216P probably damaging Het
Dsg1b T C 18: 20,529,476 (GRCm39) I307T possibly damaging Het
Ep300 A G 15: 81,485,435 (GRCm39) S141G unknown Het
Evl A C 12: 108,619,290 (GRCm39) K101T probably damaging Het
Exph5 G A 9: 53,284,328 (GRCm39) G470R probably benign Het
Flg A T 3: 93,190,515 (GRCm39) probably benign Het
Gm45704 T A 8: 73,510,920 (GRCm39) Het
Grm1 T C 10: 10,955,640 (GRCm39) M215V probably benign Het
Hadha T C 5: 30,345,994 (GRCm39) D210G probably benign Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Hrc A T 7: 44,986,157 (GRCm39) H436L possibly damaging Het
Hycc1 T C 5: 24,171,367 (GRCm39) S352G possibly damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Itgb7 C A 15: 102,131,917 (GRCm39) R222L probably benign Het
Khnyn T C 14: 56,125,296 (GRCm39) V485A probably damaging Het
Kifc5b T C 17: 27,140,826 (GRCm39) V100A probably benign Het
Lsm10 T C 4: 125,991,794 (GRCm39) M50T probably damaging Het
Map3k6 T G 4: 132,972,986 (GRCm39) W382G probably damaging Het
Mink1 T A 11: 70,501,478 (GRCm39) F922I possibly damaging Het
Mrps7 C A 11: 115,495,000 (GRCm39) A5E probably benign Het
Muc4 A G 16: 32,587,298 (GRCm39) N2713S possibly damaging Het
Nckipsd T C 9: 108,689,585 (GRCm39) S249P probably damaging Het
Neil3 T C 8: 54,052,447 (GRCm39) T384A probably benign Het
Noc3l A T 19: 38,787,399 (GRCm39) I504K probably damaging Het
Nudt13 A G 14: 20,357,839 (GRCm39) N107S probably benign Het
Or11h4b C A 14: 50,918,392 (GRCm39) R233L probably benign Het
Or2n1 T A 17: 38,486,116 (GRCm39) L47H probably damaging Het
Or5c1 T A 2: 37,222,125 (GRCm39) M122K probably damaging Het
Otub1 G T 19: 7,176,518 (GRCm39) Y205* probably null Het
Pals1 T C 12: 78,871,563 (GRCm39) V381A possibly damaging Het
Pierce2 C A 9: 72,887,270 (GRCm39) C79F probably damaging Het
Plpp7 T A 2: 31,986,100 (GRCm39) S93T probably damaging Het
Pxk T G 14: 8,138,011 (GRCm38) Y188D probably damaging Het
Rigi T C 4: 40,229,551 (GRCm39) I78V probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpap1 A T 2: 119,603,128 (GRCm39) C602* probably null Het
Sbds T C 5: 130,275,185 (GRCm39) K248E probably benign Het
Serpina10 A T 12: 103,595,092 (GRCm39) N42K probably benign Het
Slc7a8 A G 14: 54,966,797 (GRCm39) L368P probably damaging Het
Srrm1 T C 4: 135,065,184 (GRCm39) probably benign Het
Sun2 C T 15: 79,614,533 (GRCm39) V288I probably benign Het
Tas2r107 C A 6: 131,636,966 (GRCm39) A28S possibly damaging Het
Tbc1d9b T C 11: 50,037,155 (GRCm39) I268T probably benign Het
Tjp2 A G 19: 24,097,437 (GRCm39) F495L probably damaging Het
Top2b T C 14: 16,423,740 (GRCm38) L1434P possibly damaging Het
Top3b A G 16: 16,697,005 (GRCm39) probably null Het
Trdv2-2 A T 14: 54,198,761 (GRCm39) E17V possibly damaging Het
Ttc6 T A 12: 57,719,886 (GRCm39) L819Q possibly damaging Het
Txlnb A G 10: 17,718,914 (GRCm39) T582A probably benign Het
Zfp788 T C 7: 41,299,193 (GRCm39) S558P probably damaging 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
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
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'- AATCCAAGGCAGCAAGGTC -3'
(R):5'- GCATCTGGGTAGCAATCCATG -3'

Sequencing Primer
(F):5'- CGAAGATTGAAGCGAGGAATGTCATC -3'
(R):5'- CAGCCCCAGCACAGGTG -3'
Posted On 2017-10-10