Incidental Mutation 'R7854:Mtx2'
ID 607118
Institutional Source Beutler Lab
Gene Symbol Mtx2
Ensembl Gene ENSMUSG00000027099
Gene Name metaxin 2
Synonyms 1500012G02Rik
MMRRC Submission 045907-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R7854 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 74656156-74707092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74699231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 128 (Y128C)
Ref Sequence ENSEMBL: ENSMUSP00000028511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028511]
AlphaFold O88441
Predicted Effect probably damaging
Transcript: ENSMUST00000028511
AA Change: Y128C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
AA Change: Y128C

DomainStartEndE-ValueType
Pfam:GST_C_3 99 251 3.3e-21 PFAM
Pfam:GST_C_2 165 248 6.6e-8 PFAM
Meta Mutation Damage Score 0.9104 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,741,207 (GRCm39) I86F probably damaging Het
Als2cl A G 9: 110,727,564 (GRCm39) *953W probably null Het
Ap1g2 A G 14: 55,343,390 (GRCm39) F66L probably damaging Het
Aqp12 T G 1: 92,934,176 (GRCm39) C18G probably damaging Het
Atp9a T C 2: 168,490,523 (GRCm39) I826V probably benign Het
C1ra A G 6: 124,494,700 (GRCm39) Q321R probably benign Het
Calcoco1 T C 15: 102,627,991 (GRCm39) I48V possibly damaging Het
Cep63 A T 9: 102,480,197 (GRCm39) S269R probably damaging Het
Chchd7 T C 4: 3,943,422 (GRCm39) V63A possibly damaging Het
Dennd5b T C 6: 148,969,964 (GRCm39) D163G probably benign Het
Dpep2 T C 8: 106,716,160 (GRCm39) D251G Het
Ercc6 T C 14: 32,288,249 (GRCm39) L807P probably damaging Het
Fads6 A T 11: 115,188,222 (GRCm39) D27E probably benign Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Glce A T 9: 61,977,773 (GRCm39) I37N probably benign Het
Gps2 T C 11: 69,806,030 (GRCm39) L128P probably damaging Het
Gramd2b A G 18: 56,611,926 (GRCm39) T130A probably damaging Het
Hectd4 T A 5: 121,467,631 (GRCm39) Y2527N probably benign Het
Itpr1 A G 6: 108,364,330 (GRCm39) D820G probably damaging Het
Itsn2 T C 12: 4,751,276 (GRCm39) Y1289H probably damaging Het
Kcnh6 A T 11: 105,908,172 (GRCm39) I263F probably damaging Het
Kcns2 A T 15: 34,839,917 (GRCm39) M427L probably benign Het
Mptx1 A T 1: 174,159,966 (GRCm39) M91L probably benign Het
Ms4a20 T A 19: 11,089,741 (GRCm39) Y48F probably benign Het
Myh9 A T 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndufs2 T C 1: 171,066,938 (GRCm39) D140G probably damaging Het
Obscn T C 11: 58,981,538 (GRCm39) T1827A probably benign Het
Ogn A T 13: 49,774,514 (GRCm39) Y219F possibly damaging Het
Or1ak2 A G 2: 36,828,036 (GRCm39) R302G probably benign Het
Or51f2 C T 7: 102,526,992 (GRCm39) R222* probably null Het
Parp4 A G 14: 56,896,805 (GRCm39) E1943G unknown Het
Pex19 T G 1: 171,954,417 (GRCm39) probably null Het
Prss53 T C 7: 127,488,117 (GRCm39) N166S probably benign Het
Prx T A 7: 27,216,066 (GRCm39) V328E probably damaging Het
Pstpip2 C T 18: 77,962,004 (GRCm39) T258I probably benign Het
Rasgrp4 C T 7: 28,850,035 (GRCm39) P58L unknown Het
Ros1 T C 10: 52,004,563 (GRCm39) Y1019C probably damaging Het
Rptor T C 11: 119,748,779 (GRCm39) M787T probably benign Het
Rsf1 GGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Spef2 T A 15: 9,596,730 (GRCm39) R1440W possibly damaging Het
Spta1 T A 1: 174,046,396 (GRCm39) probably null Het
Sptbn4 T C 7: 27,061,835 (GRCm39) I2335V probably benign Het
Srp68 G C 11: 116,144,909 (GRCm39) probably null Het
Taar1 A G 10: 23,796,680 (GRCm39) D126G probably benign Het
Tdrd9 A G 12: 112,013,395 (GRCm39) T1210A probably benign Het
Tle5 A G 10: 81,401,481 (GRCm39) H183R probably damaging Het
Tpcn1 A G 5: 120,687,653 (GRCm39) F364L probably damaging Het
Trav2 A T 14: 52,805,238 (GRCm39) K20* probably null Het
Trpa1 T C 1: 14,951,918 (GRCm39) E927G probably benign Het
Tyk2 A T 9: 21,026,776 (GRCm39) D637E probably benign Het
Vmn1r200 T C 13: 22,580,009 (GRCm39) F271L probably benign Het
Vmn1r231 T A 17: 21,110,894 (GRCm39) D7V probably damaging Het
Wwc2 G A 8: 48,321,512 (GRCm39) T534I unknown 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
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
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'- AAGAGTGAGTCTTGCCTACTTAC -3'
(R):5'- TCCCTAAAATGTATGTGCAAGC -3'

Sequencing Primer
(F):5'- TGCCTACTTACTATTTTACTTTAGCC -3'
(R):5'- TGTGCAAGCAAAATTAAAGTAAGTG -3'
Posted On 2019-12-20