Incidental Mutation 'IGL03390:Mtch2'
ID 421022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtch2
Ensembl Gene ENSMUSG00000027282
Gene Name mitochondrial carrier 2
Synonyms 2310034D24Rik, 4930539J07Rik, HSPC032
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03390
Quality Score
Status
Chromosome 2
Chromosomal Location 90677499-90697154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90689894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 205 (T205I)
Ref Sequence ENSEMBL: ENSMUSP00000121851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111467] [ENSMUST00000111468] [ENSMUST00000136872] [ENSMUST00000150232]
AlphaFold Q791V5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000057216
Predicted Effect probably benign
Transcript: ENSMUST00000111467
AA Change: T196I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107092
Gene: ENSMUSG00000027282
AA Change: T196I

DomainStartEndE-ValueType
Pfam:Mito_carr 109 198 1.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135026
Predicted Effect probably benign
Transcript: ENSMUST00000136872
AA Change: T205I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121851
Gene: ENSMUSG00000027282
AA Change: T205I

DomainStartEndE-ValueType
Pfam:Mito_carr 118 207 3.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143773
Predicted Effect probably benign
Transcript: ENSMUST00000150232
AA Change: T214I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118566
Gene: ENSMUSG00000027282
AA Change: T214I

DomainStartEndE-ValueType
Pfam:Mito_carr 127 215 1.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144696
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA can give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mesoderm development, disorganized extraembryonic tissue, lack of amnion and chorion formation, decreased embryo size, and lethality at around E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 125,566,564 (GRCm39) probably benign Het
Ccdc18 A G 5: 108,359,997 (GRCm39) Y1127C probably damaging Het
Cdnf T A 2: 3,524,863 (GRCm39) L134* probably null Het
Col11a1 A G 3: 113,883,902 (GRCm39) D257G unknown Het
Cthrc1 T A 15: 38,940,529 (GRCm39) I44N probably benign Het
Dlec1 T C 9: 118,952,288 (GRCm39) Y545H probably benign Het
Drosha T G 15: 12,885,069 (GRCm39) probably null Het
Ebf2 A G 14: 67,661,558 (GRCm39) N562S probably benign Het
Fem1b G A 9: 62,704,246 (GRCm39) A338V probably benign Het
Gga3 A T 11: 115,477,820 (GRCm39) probably null Het
Gm7247 A T 14: 51,760,914 (GRCm39) H161L probably benign Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Inpp5a T G 7: 139,105,664 (GRCm39) V213G probably benign Het
Kcns3 T C 12: 11,141,233 (GRCm39) T489A probably benign Het
Kifc3 G A 8: 95,835,241 (GRCm39) A211V probably damaging Het
Krt71 T C 15: 101,642,987 (GRCm39) D507G possibly damaging Het
Lama5 T C 2: 179,849,011 (GRCm39) Y224C probably damaging Het
Lrrc37a A G 11: 103,386,857 (GRCm39) L2421P unknown Het
Or1o11 T C 17: 37,757,255 (GRCm39) V281A probably benign Het
Prkdc T A 16: 15,488,490 (GRCm39) C537* probably null Het
Prl2a1 T C 13: 27,985,699 (GRCm39) V5A probably benign Het
Prob1 T C 18: 35,787,192 (GRCm39) Y354C probably benign Het
Rimklb C T 6: 122,433,280 (GRCm39) S347N possibly damaging Het
Rnase2a T C 14: 51,492,945 (GRCm39) D140G probably damaging Het
Ryr2 G A 13: 11,787,302 (GRCm39) P1017S probably benign Het
Slc3a1 A G 17: 85,340,205 (GRCm39) D209G probably damaging Het
Sntn T A 14: 13,682,205 (GRCm38) probably benign Het
Tal2 G T 4: 53,785,994 (GRCm39) L58F probably damaging Het
Trim39 T C 17: 36,571,463 (GRCm39) K432E probably damaging Het
Trmt5 A T 12: 73,329,501 (GRCm39) M219K probably benign Het
Vmn2r3 T A 3: 64,182,767 (GRCm39) I311L possibly damaging Het
Wfdc17 A T 11: 83,595,611 (GRCm39) probably benign Het
Zbtb6 T G 2: 37,319,584 (GRCm39) I115L probably damaging Het
Zfp750 A T 11: 121,402,770 (GRCm39) C659* probably null Het
Other mutations in Mtch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0543:Mtch2 UTSW 2 90,680,026 (GRCm39) missense possibly damaging 0.81
R0578:Mtch2 UTSW 2 90,683,174 (GRCm39) splice site probably benign
R1418:Mtch2 UTSW 2 90,683,359 (GRCm39) splice site probably benign
R1996:Mtch2 UTSW 2 90,677,665 (GRCm39) missense possibly damaging 0.74
R4305:Mtch2 UTSW 2 90,689,827 (GRCm39) missense probably benign 0.00
R6268:Mtch2 UTSW 2 90,693,992 (GRCm39) missense probably benign
R6386:Mtch2 UTSW 2 90,679,739 (GRCm39) missense probably benign 0.30
R8433:Mtch2 UTSW 2 90,677,505 (GRCm39) unclassified probably benign
R8434:Mtch2 UTSW 2 90,683,208 (GRCm39) nonsense probably null
R8864:Mtch2 UTSW 2 90,685,274 (GRCm39) nonsense probably null
R9251:Mtch2 UTSW 2 90,679,980 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02