Incidental Mutation 'R8864:Mtch2'
ID 675799
Institutional Source Beutler Lab
Gene Symbol Mtch2
Ensembl Gene ENSMUSG00000027282
Gene Name mitochondrial carrier 2
Synonyms 2310034D24Rik, HSPC032, 4930539J07Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90847155-90866810 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 90854930 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 135 (R135*)
Ref Sequence ENSEMBL: ENSMUSP00000118566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111467] [ENSMUST00000111468] [ENSMUST00000136872] [ENSMUST00000150232]
AlphaFold Q791V5
Predicted Effect probably null
Transcript: ENSMUST00000111467
AA Change: R117*
SMART Domains Protein: ENSMUSP00000107092
Gene: ENSMUSG00000027282
AA Change: R117*

Pfam:Mito_carr 109 198 1.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111468
Predicted Effect probably null
Transcript: ENSMUST00000136872
AA Change: R126*
SMART Domains Protein: ENSMUSP00000121851
Gene: ENSMUSG00000027282
AA Change: R126*

Pfam:Mito_carr 118 207 3.6e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000150232
AA Change: R135*
SMART Domains Protein: ENSMUSP00000118566
Gene: ENSMUSG00000027282
AA Change: R135*

Pfam:Mito_carr 127 215 1.7e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,890,425 C297* probably null Het
Adamts3 T C 5: 89,707,122 probably benign Het
Best2 T A 8: 85,009,313 M331L probably benign Het
Cachd1 T A 4: 100,994,829 S1207R probably damaging Het
Cacna2d3 G T 14: 29,333,778 N298K probably damaging Het
Cyp2j12 T C 4: 96,121,513 Y203C probably damaging Het
Dnah8 T C 17: 30,762,642 I3046T possibly damaging Het
Eif3b T C 5: 140,426,532 V252A probably benign Het
Ergic2 A G 6: 148,181,895 V355A probably benign Het
F13a1 C T 13: 36,877,779 G670D probably damaging Het
Gfpt1 T A 6: 87,054,623 D82E probably benign Het
Ggnbp2 G A 11: 84,840,076 R376C probably damaging Het
Gm30302 T C 13: 49,787,512 N241D probably benign Het
Grn T C 11: 102,436,385 F191L unknown Het
Ighv1-16 C T 12: 114,665,999 G56D probably benign Het
Jrkl T C 9: 13,244,321 D445G probably benign Het
Loxl3 A G 6: 83,035,758 T93A probably damaging Het
Lrp1b C T 2: 41,112,706 A2094T Het
Lrriq3 T A 3: 155,187,938 D425E probably damaging Het
Majin T C 19: 6,211,620 V55A possibly damaging Het
Mapk8ip3 A T 17: 24,899,518 V1192E probably damaging Het
Mdga1 T C 17: 29,931,321 S106G unknown Het
Naip1 T C 13: 100,426,320 N779S possibly damaging Het
Nfia T C 4: 98,063,145 V403A possibly damaging Het
Npas4 C A 19: 4,988,528 D121Y probably damaging Het
Rab3gap1 C T 1: 127,909,893 R231W probably damaging Het
Rangap1 C G 15: 81,726,069 probably benign Het
Rgs5 T A 1: 169,690,421 F75I probably benign Het
Rnf19a T C 15: 36,265,306 D215G possibly damaging Het
Rwdd4a A T 8: 47,547,841 probably benign Het
Setd5 G A 6: 113,111,508 R199H probably damaging Het
Spef2 T C 15: 9,599,747 Q2004R unknown Het
Syne1 T C 10: 5,420,473 K236E probably benign Het
Tas2r104 A G 6: 131,685,669 F26L possibly damaging Het
Tbc1d32 T A 10: 56,087,559 E954D probably benign Het
Tenm2 A C 11: 36,027,195 S1914A possibly damaging Het
Tln2 G T 9: 67,330,552 Y32* probably null Het
Tnc C T 4: 63,993,059 R1425H probably damaging Het
Unc13b T C 4: 43,174,724 C1851R unknown Het
Wapl T A 14: 34,692,202 D340E probably benign Het
Zfp74 T C 7: 29,934,810 E491G probably damaging Het
Other mutations in Mtch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03390:Mtch2 APN 2 90859550 missense probably benign 0.08
R0543:Mtch2 UTSW 2 90849682 missense possibly damaging 0.81
R0578:Mtch2 UTSW 2 90852830 splice site probably benign
R1418:Mtch2 UTSW 2 90853015 splice site probably benign
R1996:Mtch2 UTSW 2 90847321 missense possibly damaging 0.74
R4305:Mtch2 UTSW 2 90859483 missense probably benign 0.00
R6268:Mtch2 UTSW 2 90863648 missense probably benign
R6386:Mtch2 UTSW 2 90849395 missense probably benign 0.30
R8433:Mtch2 UTSW 2 90847161 unclassified probably benign
R8434:Mtch2 UTSW 2 90852864 nonsense probably null
R9251:Mtch2 UTSW 2 90849636 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-07-15