Incidental Mutation 'IGL01360:Mtg2'
ID 75712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtg2
Ensembl Gene ENSMUSG00000039069
Gene Name mitochondrial ribosome associated GTPase 2
Synonyms D2Bwg0647e, 2900056P18Rik, 1810011P19Rik, Gtpbp5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01360
Quality Score
Status
Chromosome 2
Chromosomal Location 179712381-179727695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 179725870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 160 (T160I)
Ref Sequence ENSEMBL: ENSMUSP00000139273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087563] [ENSMUST00000108901] [ENSMUST00000184862]
AlphaFold A2AFK4
Predicted Effect probably damaging
Transcript: ENSMUST00000087563
AA Change: T160I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084843
Gene: ENSMUSG00000039069
AA Change: T160I

DomainStartEndE-ValueType
Pfam:GTP1_OBG 71 222 5.1e-43 PFAM
Pfam:FeoB_N 224 384 1.8e-11 PFAM
Pfam:MMR_HSR1 225 345 7.9e-22 PFAM
Pfam:Miro 225 347 1.5e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108901
AA Change: T160I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104529
Gene: ENSMUSG00000039069
AA Change: T160I

DomainStartEndE-ValueType
Pfam:GTP1_OBG 71 222 1.5e-49 PFAM
Pfam:FeoB_N 224 384 8.3e-12 PFAM
Pfam:MMR_HSR1 225 345 3.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147264
Predicted Effect probably damaging
Transcript: ENSMUST00000184862
AA Change: T160I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139273
Gene: ENSMUSG00000039069
AA Change: T160I

DomainStartEndE-ValueType
Pfam:GTP1_OBG 71 222 2e-43 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,325,648 (GRCm39) I1517L possibly damaging Het
Akap12 A T 10: 4,307,537 (GRCm39) D1449V probably benign Het
Alg6 T A 4: 99,630,643 (GRCm39) Y161N probably benign Het
Arhgap45 A T 10: 79,864,482 (GRCm39) probably benign Het
Arhgap5 A T 12: 52,565,023 (GRCm39) I665F probably damaging Het
Bbs4 A G 9: 59,247,131 (GRCm39) V123A possibly damaging Het
Carm1 C T 9: 21,498,598 (GRCm39) T480I probably benign Het
Catsperb G A 12: 101,591,513 (GRCm39) V1032M probably damaging Het
Cdc42bpb A C 12: 111,308,509 (GRCm39) I101S probably damaging Het
Copa C A 1: 171,915,155 (GRCm39) probably null Het
Cramp1 T C 17: 25,216,547 (GRCm39) I189V probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Egf A T 3: 129,533,669 (GRCm39) F57Y probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Gm14178 A G 11: 99,638,269 (GRCm39) S37P unknown Het
Gpbp1 A T 13: 111,563,075 (GRCm39) probably benign Het
Herc1 T C 9: 66,390,981 (GRCm39) S3980P probably benign Het
Itga6 T C 2: 71,617,670 (GRCm39) probably null Het
Itgb4 T C 11: 115,881,766 (GRCm39) S772P probably damaging Het
Kcng4 C A 8: 120,352,416 (GRCm39) G498V probably benign Het
Lrp1 T G 10: 127,381,689 (GRCm39) D3795A possibly damaging Het
Lrrk2 T A 15: 91,584,772 (GRCm39) probably null Het
Mettl25 A T 10: 105,659,058 (GRCm39) H408Q probably damaging Het
Mki67 T C 7: 135,307,505 (GRCm39) E457G probably damaging Het
Mpl G A 4: 118,312,858 (GRCm39) T158I possibly damaging Het
Mtif2 A G 11: 29,480,110 (GRCm39) I59V probably benign Het
Ncapg C A 5: 45,831,727 (GRCm39) S191* probably null Het
Nup214 T C 2: 31,928,190 (GRCm39) probably benign Het
Or9m1 T C 2: 87,733,871 (GRCm39) T50A probably benign Het
Phf3 T A 1: 30,847,809 (GRCm39) T1245S probably damaging Het
Piezo2 T C 18: 63,250,770 (GRCm39) D443G probably damaging Het
Pramel19 A T 4: 101,797,665 (GRCm39) D21V possibly damaging Het
Ptchd4 C A 17: 42,627,936 (GRCm39) H132Q probably benign Het
Pum1 T C 4: 130,455,481 (GRCm39) probably benign Het
Slc30a7 A T 3: 115,783,765 (GRCm39) V136E probably damaging Het
Slc5a10 A G 11: 61,605,962 (GRCm39) V116A probably damaging Het
Sos2 A T 12: 69,637,574 (GRCm39) S1046T probably benign Het
Svep1 A G 4: 58,116,554 (GRCm39) S899P possibly damaging Het
Tfr2 G A 5: 137,569,953 (GRCm39) V120I probably benign Het
Tnfrsf18 A T 4: 156,112,493 (GRCm39) R117* probably null Het
Trmt9b A G 8: 36,979,713 (GRCm39) I439V probably benign Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Vmn2r112 T C 17: 22,837,603 (GRCm39) M688T probably benign Het
Vmn2r93 T A 17: 18,525,510 (GRCm39) D389E possibly damaging Het
Zpld1 T G 16: 55,046,748 (GRCm39) N407T probably benign Het
Zranb3 C T 1: 127,887,622 (GRCm39) W935* probably null Het
Zyx G A 6: 42,327,378 (GRCm39) R59Q probably damaging Het
Other mutations in Mtg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0959:Mtg2 UTSW 2 179,725,221 (GRCm39) missense probably benign 0.06
R2156:Mtg2 UTSW 2 179,725,923 (GRCm39) nonsense probably null
R3428:Mtg2 UTSW 2 179,726,065 (GRCm39) missense possibly damaging 0.88
R5032:Mtg2 UTSW 2 179,725,183 (GRCm39) missense possibly damaging 0.79
R6641:Mtg2 UTSW 2 179,727,301 (GRCm39) missense probably benign 0.00
R7288:Mtg2 UTSW 2 179,725,180 (GRCm39) missense probably damaging 1.00
R8161:Mtg2 UTSW 2 179,727,368 (GRCm39) missense probably benign
Posted On 2013-10-07