Incidental Mutation 'R5552:Mrrf'
ID 435163
Institutional Source Beutler Lab
Gene Symbol Mrrf
Ensembl Gene ENSMUSG00000026887
Gene Name mitochondrial ribosome recycling factor
Synonyms 2400002D02Rik
MMRRC Submission 043109-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R5552 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 36026401-36080659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36037973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 81 (D81E)
Ref Sequence ENSEMBL: ENSMUSP00000028250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028250] [ENSMUST00000132042]
AlphaFold Q9D6S7
PDB Structure Solution structure of RSGI RUH-021, a domain II of ribosome recycling factor from mouse cDNA [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028250
AA Change: D81E

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028250
Gene: ENSMUSG00000026887
AA Change: D81E

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:RRF 99 261 3.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162490
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,813,530 (GRCm39) Y403H probably benign Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgap19 T C 19: 41,772,819 (GRCm39) I291M probably benign Het
Blzf1 A T 1: 164,130,058 (GRCm39) I91N probably damaging Het
Cdh2 T C 18: 16,773,520 (GRCm39) T270A possibly damaging Het
Chd5 T A 4: 152,470,272 (GRCm39) M1906K possibly damaging Het
Cpsf1 T C 15: 76,483,846 (GRCm39) D799G probably benign Het
Csnk1g3 T C 18: 54,065,355 (GRCm39) F313L probably benign Het
Cyfip1 T C 7: 55,521,855 (GRCm39) V53A possibly damaging Het
Dcst1 T C 3: 89,272,373 (GRCm39) D30G probably benign Het
Dlgap2 G T 8: 14,881,342 (GRCm39) G805* probably null Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Evi5 A T 5: 107,966,855 (GRCm39) V222E probably damaging Het
Gli1 C A 10: 127,166,131 (GRCm39) A1041S probably benign Het
Glipr1l1 A T 10: 111,898,243 (GRCm39) Q116L probably benign Het
H3c4 A G 13: 23,760,295 (GRCm39) D107G probably damaging Het
Hectd4 T A 5: 121,480,914 (GRCm39) L2985Q possibly damaging Het
Hk2 G T 6: 82,707,804 (GRCm39) R694S possibly damaging Het
Htt A G 5: 34,979,118 (GRCm39) M834V probably benign Het
Itpr2 A G 6: 146,195,578 (GRCm39) Y1600H probably benign Het
Med1 A T 11: 98,057,157 (GRCm39) Y340* probably null Het
Mov10l1 T A 15: 88,938,569 (GRCm39) probably null Het
Mrc1 T C 2: 14,284,768 (GRCm39) F586L probably benign Het
Nod1 A G 6: 54,921,616 (GRCm39) F234S probably damaging Het
Odad2 A G 18: 7,285,360 (GRCm39) V267A possibly damaging Het
Or10ak9 T A 4: 118,726,665 (GRCm39) I228N probably damaging Het
Or6c69c T C 10: 129,911,014 (GRCm39) V245A probably damaging Het
Pde4a T C 9: 21,112,682 (GRCm39) V343A probably damaging Het
Pmfbp1 T A 8: 110,258,383 (GRCm39) L649Q probably damaging Het
Polq A G 16: 36,914,872 (GRCm39) I2511V possibly damaging Het
Pramel51 T A 12: 88,145,135 (GRCm39) T64S probably benign Het
Serac1 T A 17: 6,106,967 (GRCm39) R361* probably null Het
Serpina3g T C 12: 104,206,595 (GRCm39) V132A probably damaging Het
Thada A C 17: 84,736,558 (GRCm39) S908A probably benign Het
Zfp280b C T 10: 75,875,497 (GRCm39) Q459* probably null Het
Other mutations in Mrrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Mrrf APN 2 36,031,643 (GRCm39) missense possibly damaging 0.82
R0239:Mrrf UTSW 2 36,067,293 (GRCm39) splice site probably benign
R0370:Mrrf UTSW 2 36,067,125 (GRCm39) critical splice acceptor site probably null
R0671:Mrrf UTSW 2 36,043,710 (GRCm39) missense probably benign 0.01
R2517:Mrrf UTSW 2 36,079,109 (GRCm39) missense probably benign 0.07
R4823:Mrrf UTSW 2 36,038,042 (GRCm39) missense possibly damaging 0.93
R6056:Mrrf UTSW 2 36,067,233 (GRCm39) missense probably damaging 1.00
R8269:Mrrf UTSW 2 36,037,973 (GRCm39) missense possibly damaging 0.85
R8805:Mrrf UTSW 2 36,037,965 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACATAAGAGCTCCTGTGCAG -3'
(R):5'- CACAAACGGCAGTTAGTCAGG -3'

Sequencing Primer
(F):5'- GCACCTTTGAAACTGCCA -3'
(R):5'- GTCAGGCGGACGCTGGG -3'
Posted On 2016-10-24