Incidental Mutation 'R3733:Mtx2'
ID 271069
Institutional Source Beutler Lab
Gene Symbol Mtx2
Ensembl Gene ENSMUSG00000027099
Gene Name metaxin 2
Synonyms 1500012G02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R3733 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 74656156-74707092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74677606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 22 (A22E)
Ref Sequence ENSEMBL: ENSMUSP00000028511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028511]
AlphaFold O88441
Predicted Effect probably damaging
Transcript: ENSMUST00000028511
AA Change: A22E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
AA Change: A22E

DomainStartEndE-ValueType
Pfam:GST_C_3 99 251 3.3e-21 PFAM
Pfam:GST_C_2 165 248 6.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155844
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.3%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mrps18b G A 17: 36,221,759 (GRCm39) P97S probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign 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
R6918:Mtx2 UTSW 2 74,706,697 (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'- TGCATCCAGTCTAAGATAGTGTGATTC -3'
(R):5'- TGGCAGGTACAAGTTTAGGC -3'

Sequencing Primer
(F):5'- CAGTGCTGTCGTGTCACCTTAAAG -3'
(R):5'- TGGCAGGTACAAGTTTAGGCAAAAC -3'
Posted On 2015-03-18