Incidental Mutation 'R0578:Mtch2'
ID 56290
Institutional Source Beutler Lab
Gene Symbol Mtch2
Ensembl Gene ENSMUSG00000027282
Gene Name mitochondrial carrier 2
Synonyms 2310034D24Rik, 4930539J07Rik, HSPC032
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0578 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90677499-90697154 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 90683174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118566 (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
SMART Domains Protein: ENSMUSP00000107092
Gene: ENSMUSG00000027282

DomainStartEndE-ValueType
Pfam:Mito_carr 109 198 1.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111468
Predicted Effect probably benign
Transcript: ENSMUST00000136872
SMART Domains Protein: ENSMUSP00000121851
Gene: ENSMUSG00000027282

DomainStartEndE-ValueType
Pfam:Mito_carr 118 207 3.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146392
Predicted Effect probably benign
Transcript: ENSMUST00000150232
SMART Domains Protein: ENSMUSP00000118566
Gene: ENSMUSG00000027282

DomainStartEndE-ValueType
Pfam:Mito_carr 127 215 1.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148936
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Capns1 A T 7: 29,893,453 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Faf2 C T 13: 54,769,658 (GRCm39) A2V possibly damaging Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Isl2 A G 9: 55,452,319 (GRCm39) Y297C probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Nuf2 T A 1: 169,338,118 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Or6c8 A G 10: 128,915,062 (GRCm39) Y257H probably damaging Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pi15 A T 1: 17,673,073 (GRCm39) K91* probably null Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging Het
Other mutations in Mtch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03390:Mtch2 APN 2 90,689,894 (GRCm39) missense probably benign 0.08
R0543:Mtch2 UTSW 2 90,680,026 (GRCm39) missense possibly damaging 0.81
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
Predicted Primers PCR Primer
(F):5'- TGGCACTACTGGGAATTGAACCAAAA -3'
(R):5'- AGACCTGGAAGCACAGGATGTATGA -3'

Sequencing Primer
(F):5'- ggaaatagaagcagaagcatcag -3'
(R):5'- ATCCTGGTTCAATCACATGGG -3'
Posted On 2013-07-11