Incidental Mutation 'R3428:Mtg2'
ID 267946
Institutional Source Beutler Lab
Gene Symbol Mtg2
Ensembl Gene ENSMUSG00000039069
Gene Name mitochondrial ribosome associated GTPase 2
Synonyms D2Bwg0647e, 2900056P18Rik, 1810011P19Rik, Gtpbp5
MMRRC Submission 040646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3428 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 179712381-179727695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179726065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 225 (H225R)
Ref Sequence ENSEMBL: ENSMUSP00000104529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087563] [ENSMUST00000108901] [ENSMUST00000184862]
AlphaFold A2AFK4
Predicted Effect possibly damaging
Transcript: ENSMUST00000087563
AA Change: H225R

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084843
Gene: ENSMUSG00000039069
AA Change: H225R

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 possibly damaging
Transcript: ENSMUST00000108901
AA Change: H225R

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104529
Gene: ENSMUSG00000039069
AA Change: H225R

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 possibly damaging
Transcript: ENSMUST00000184862
AA Change: H225R

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139273
Gene: ENSMUSG00000039069
AA Change: H225R

DomainStartEndE-ValueType
Pfam:GTP1_OBG 71 222 2e-43 PFAM
Meta Mutation Damage Score 0.6364 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (34/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C A 8: 25,157,620 (GRCm39) C110F probably damaging Het
Adamts14 C T 10: 61,060,153 (GRCm39) E452K probably benign Het
Adrb3 T C 8: 27,718,209 (GRCm39) D80G probably damaging Het
Alg5 T A 3: 54,643,006 (GRCm39) M1K probably null Het
Ap1g1 A G 8: 110,570,080 (GRCm39) E398G probably damaging Het
Arhgap17 A T 7: 122,922,854 (GRCm39) L85Q probably damaging Het
Bbs9 T A 9: 22,479,183 (GRCm39) probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bicd1 T C 6: 149,414,400 (GRCm39) L371P probably damaging Het
Cand2 A C 6: 115,766,668 (GRCm39) R424S probably benign Het
Eng G T 2: 32,547,545 (GRCm39) V29F probably damaging Het
Gm5828 T A 1: 16,838,838 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,282,601 (GRCm39) L3447P probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kmt2a T A 9: 44,759,416 (GRCm39) N844I probably benign Het
Lyzl4 T C 9: 121,413,195 (GRCm39) I78V probably null Het
Or10a5 G A 7: 106,635,923 (GRCm39) R187K probably benign Het
Pfpl T A 19: 12,407,677 (GRCm39) S643T probably benign Het
Prelid1 T G 13: 55,470,007 (GRCm39) V2G probably benign Het
Psma2 A T 13: 14,791,362 (GRCm39) K2N probably benign Het
Sec24d C T 3: 123,137,572 (GRCm39) probably benign Het
Setd1a G T 7: 127,384,493 (GRCm39) probably benign Het
Slc20a1 A T 2: 129,042,202 (GRCm39) N149I probably benign Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav6-7-dv9 A G 14: 53,947,788 (GRCm39) T97A probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Ubr2 T C 17: 47,279,365 (GRCm39) Y681C probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r125 A G 4: 156,702,436 (GRCm39) D74G probably benign Het
Yipf2 T C 9: 21,500,941 (GRCm39) probably benign Het
Other mutations in Mtg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Mtg2 APN 2 179,725,870 (GRCm39) missense probably damaging 1.00
R0959:Mtg2 UTSW 2 179,725,221 (GRCm39) missense probably benign 0.06
R2156:Mtg2 UTSW 2 179,725,923 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- TCGTGGCTGACCTCTCTAAC -3'
(R):5'- TGCATTTGAAATGGCTCGAAG -3'

Sequencing Primer
(F):5'- TCTCTAACCTGGGAGACGAGTAC -3'
(R):5'- AGAGAGGATTTCCCAGCATTTG -3'
Posted On 2015-02-18