Incidental Mutation 'R0790:Mrap2'
ID 76435
Institutional Source Beutler Lab
Gene Symbol Mrap2
Ensembl Gene ENSMUSG00000042761
Gene Name melanocortin 2 receptor accessory protein 2
Synonyms
MMRRC Submission 038970-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0790 (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 87064835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 192 (L192P)
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: L192P

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046271
Gene: ENSMUSG00000042761
AA Change: L192P

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113149
AA Change: L192P

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108774
Gene: ENSMUSG00000042761
AA Change: L192P

DomainStartEndE-ValueType
Pfam:MRAP 14 102 6.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179313
AA Change: L192P

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135904
Gene: ENSMUSG00000042761
AA Change: L192P

DomainStartEndE-ValueType
Pfam:MRAP 15 101 4.5e-38 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.0%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A G 12: 8,060,245 (GRCm39) E2876G probably damaging Het
Arhgef28 A G 13: 98,117,914 (GRCm39) S585P possibly damaging Het
Atp11b T A 3: 35,887,072 (GRCm39) N685K probably damaging Het
Camsap2 C T 1: 136,201,475 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,316,935 (GRCm39) probably benign Het
Cdc23 A G 18: 34,784,666 (GRCm39) I32T possibly damaging Het
Cdca2 C T 14: 67,917,740 (GRCm39) D553N probably benign Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Chit1 T G 1: 134,066,490 (GRCm39) V2G probably benign Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Cpsf4l A G 11: 113,597,234 (GRCm39) probably benign Het
Etaa1 G T 11: 17,896,051 (GRCm39) Q689K probably benign Het
Fam83h C T 15: 75,875,241 (GRCm39) V699I probably benign Het
Fry A G 5: 150,389,902 (GRCm39) D2545G probably benign Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Kif5a T C 10: 127,081,878 (GRCm39) probably benign Het
Lifr A G 15: 7,215,196 (GRCm39) T768A probably benign Het
Myo18a G A 11: 77,731,535 (GRCm39) R840Q possibly damaging Het
Myrfl T C 10: 116,653,693 (GRCm39) D458G probably damaging Het
Or12j4 T C 7: 140,046,962 (GRCm39) S283P possibly damaging Het
Or51s1 A G 7: 102,558,843 (GRCm39) Y68H probably benign Het
Pcdh15 A G 10: 74,466,885 (GRCm39) E1034G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcb2 G A 2: 118,542,964 (GRCm39) probably benign Het
Psmd1 T C 1: 86,005,172 (GRCm39) V202A possibly damaging Het
Raet1d T C 10: 22,246,795 (GRCm39) I41T probably damaging Het
Retnlb T A 16: 48,637,589 (GRCm39) L5Q possibly damaging Het
Sh3rf1 T C 8: 61,782,292 (GRCm39) Y145H probably damaging Het
Smad7 C T 18: 75,526,933 (GRCm39) H260Y probably benign Het
Stk10 T C 11: 32,548,653 (GRCm39) V407A probably benign Het
Synpo A G 18: 60,736,575 (GRCm39) V218A probably damaging Het
Tll2 T A 19: 41,092,289 (GRCm39) Y499F probably damaging Het
Vrk1 C T 12: 106,036,883 (GRCm39) P390S probably benign Het
Zfp748 A C 13: 67,693,481 (GRCm39) L64W probably benign Het
Other mutations in Mrap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
bigbear UTSW 9 87,051,712 (GRCm39) critical splice donor site probably null
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
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'- AACAGCCATCGACAGTGATGTCC -3'
(R):5'- ACCAAAATGGTGCCTTCCATCTCC -3'

Sequencing Primer
(F):5'- TGATGTCCACCTCCAGGAAG -3'
(R):5'- cctcctctctctctctctctc -3'
Posted On 2013-10-16