Incidental Mutation 'R6918:Mtx2'
ID 539431
Institutional Source Beutler Lab
Gene Symbol Mtx2
Ensembl Gene ENSMUSG00000027099
Gene Name metaxin 2
Synonyms 1500012G02Rik
MMRRC Submission 045005-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R6918 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 74656156-74707092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74706697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 224 (T224I)
Ref Sequence ENSEMBL: ENSMUSP00000028511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028511]
AlphaFold O88441
Predicted Effect probably damaging
Transcript: ENSMUST00000028511
AA Change: T224I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
AA Change: T224I

DomainStartEndE-ValueType
Pfam:GST_C_3 99 251 3.3e-21 PFAM
Pfam:GST_C_2 165 248 6.6e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A C 17: 24,627,632 (GRCm39) K1359Q probably damaging Het
Ace T C 11: 105,863,769 (GRCm39) Y406H probably damaging Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Alms1 T A 6: 85,599,643 (GRCm39) Y1959N possibly damaging Het
Chrna7 T A 7: 62,809,299 (GRCm39) I76F probably benign Het
Cuedc1 C T 11: 88,077,899 (GRCm39) T296I probably benign Het
Ddc A G 11: 11,769,307 (GRCm39) V409A probably damaging Het
Dhx8 T A 11: 101,629,247 (GRCm39) Y212* probably null Het
Dnah6 T A 6: 73,158,738 (GRCm39) K622* probably null Het
Dscaml1 A G 9: 45,341,805 (GRCm39) H72R probably benign Het
Dyrk1b A G 7: 27,885,350 (GRCm39) D396G probably damaging Het
Gstm2 A G 3: 107,892,557 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,425 (GRCm39) Y189H probably damaging Het
Kif1c G A 11: 70,597,813 (GRCm39) E356K probably damaging Het
Kirrel2 A C 7: 30,150,239 (GRCm39) C17G probably damaging Het
Klhl12 A G 1: 134,403,584 (GRCm39) H259R possibly damaging Het
Krt1 A G 15: 101,758,612 (GRCm39) V184A probably damaging Het
Lmod2 A T 6: 24,603,594 (GRCm39) N190Y probably benign Het
Lrp2 A C 2: 69,319,649 (GRCm39) V1958G probably damaging Het
Ly6h T C 15: 75,437,507 (GRCm39) S37G probably damaging Het
Man2a2 A T 7: 80,002,940 (GRCm39) H1056Q possibly damaging Het
Misp3 T G 8: 84,738,313 (GRCm39) M1L probably benign Het
Mixl1 T A 1: 180,522,243 (GRCm39) I213F probably benign Het
Morc3 T C 16: 93,650,023 (GRCm39) I268T probably benign Het
Or8c15 G A 9: 38,120,948 (GRCm39) V198M possibly damaging Het
Oscp1 A C 4: 125,970,571 (GRCm39) D120A possibly damaging Het
Parp1 G A 1: 180,416,235 (GRCm39) V545I possibly damaging Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pkp2 A G 16: 16,090,082 (GRCm39) Y790C probably damaging Het
Pomt1 T A 2: 32,142,873 (GRCm39) probably null Het
Pp2d1 G A 17: 53,822,487 (GRCm39) T193M probably damaging Het
Prkra G T 2: 76,460,797 (GRCm39) H300Q probably damaging Het
Ror2 T G 13: 53,265,487 (GRCm39) N523T probably damaging Het
Rp1 A T 1: 4,069,831 (GRCm39) D1355E unknown Het
Rsph4a T C 10: 33,781,272 (GRCm39) Y41H probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Taar7e T A 10: 23,913,513 (GRCm39) M1K probably null Het
Tex15 T G 8: 34,063,212 (GRCm39) L1155V probably benign Het
Tmprss3 T C 17: 31,407,331 (GRCm39) K321E probably benign Het
Trappc14 A G 5: 138,258,926 (GRCm39) V211A probably benign Het
Tsc2 A T 17: 24,832,203 (GRCm39) C728S probably damaging Het
Ube2e3 A T 2: 78,750,383 (GRCm39) K203M probably damaging Het
Unc50 A T 1: 37,477,783 (GRCm39) T222S probably damaging Het
Vmn1r236 A T 17: 21,507,878 (GRCm39) H332L probably benign Het
Vmn2r7 G A 3: 64,598,760 (GRCm39) T599I probably benign Het
Zfp334 A T 2: 165,223,799 (GRCm39) D81E possibly damaging Het
Zfp710 A G 7: 79,731,788 (GRCm39) I322V possibly damaging Het
Other mutations in Mtx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Mtx2 APN 2 74,706,733 (GRCm39) missense probably damaging 1.00
IGL03277:Mtx2 APN 2 74,698,748 (GRCm39) missense probably damaging 1.00
R0593:Mtx2 UTSW 2 74,699,780 (GRCm39) splice site probably benign
R0638:Mtx2 UTSW 2 74,699,634 (GRCm39) splice site probably benign
R2240:Mtx2 UTSW 2 74,699,696 (GRCm39) missense probably benign 0.00
R2906:Mtx2 UTSW 2 74,697,253 (GRCm39) missense probably damaging 1.00
R3151:Mtx2 UTSW 2 74,677,634 (GRCm39) splice site probably null
R3732:Mtx2 UTSW 2 74,677,606 (GRCm39) missense probably damaging 1.00
R3732:Mtx2 UTSW 2 74,677,606 (GRCm39) missense probably damaging 1.00
R3733:Mtx2 UTSW 2 74,677,606 (GRCm39) missense probably damaging 1.00
R7154:Mtx2 UTSW 2 74,706,762 (GRCm39) missense probably damaging 1.00
R7854:Mtx2 UTSW 2 74,699,231 (GRCm39) missense probably damaging 1.00
R8139:Mtx2 UTSW 2 74,706,714 (GRCm39) missense probably benign 0.04
R8234:Mtx2 UTSW 2 74,699,706 (GRCm39) missense probably damaging 1.00
R8942:Mtx2 UTSW 2 74,699,696 (GRCm39) missense probably benign 0.01
R9326:Mtx2 UTSW 2 74,656,287 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTCTGGCACACTGGAAACC -3'
(R):5'- GATCCTGCAACTACTACCATATTGTTC -3'

Sequencing Primer
(F):5'- AAATGCTGTCAAGTTCTGAGAAG -3'
(R):5'- AGACAACCTGCCTTTACC -3'
Posted On 2018-11-06