Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Mtch2'

701528

Institutional Source

Beutler Lab

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 #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90677499-90697154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90679980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 71 (F71I)

Ref Sequence

ENSEMBL: ENSMUSP00000118566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111467] [ENSMUST00000111468] [ENSMUST00000136872] [ENSMUST00000150232]

AlphaFold

Q791V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000111467
AA Change: F71I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107092
Gene: ENSMUSG00000027282
AA Change: F71I

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	109	198	1.9e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111468
AA Change: C42*

Predicted Effect

probably damaging
Transcript: ENSMUST00000136872
AA Change: F71I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121851
Gene: ENSMUSG00000027282
AA Change: F71I

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	118	207	3.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150232
AA Change: F71I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118566
Gene: ENSMUSG00000027282
AA Change: F71I

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	127	215	1.7e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	G	T	16: 38,423,218 (GRCm39)	N949K	probably benign	Het
Arv1	T	A	8: 125,452,062 (GRCm39)	I76N	probably damaging	Het
Cfap44	G	A	16: 44,229,276 (GRCm39)	A189T	probably damaging	Het
Ch25h	T	C	19: 34,451,769 (GRCm39)	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,581,587 (GRCm39)	M376T	probably damaging	Het
Cnot7	T	C	8: 40,964,622 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 118,012,618 (GRCm39)	S481F	probably benign	Het
Dnah2	C	T	11: 69,406,619 (GRCm39)	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,621,671 (GRCm39)	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,957,166 (GRCm39)	D19G	probably damaging	Het
Eefsec	A	T	6: 88,332,574 (GRCm39)	M212K	probably damaging	Het
Elp6	G	A	9: 110,134,666 (GRCm39)	V12I	unknown	Het
Enox1	G	A	14: 77,852,997 (GRCm39)		probably null	Het
Epha1	G	T	6: 42,341,777 (GRCm39)	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,226,525 (GRCm39)	S553P	probably benign	Het
Fbxw21	A	G	9: 108,974,687 (GRCm39)	S278P	probably damaging	Het
Gm45861	T	C	8: 28,032,589 (GRCm39)		probably null	Het
Gm4846	T	A	1: 166,311,307 (GRCm39)	R517S	probably benign	Het
Gnrhr	A	G	5: 86,345,221 (GRCm39)	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,894,409 (GRCm39)		probably benign	Het
Ik	T	A	18: 36,880,495 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,717,391 (GRCm39)	Q763L	probably benign	Het
Klf5	G	T	14: 99,538,824 (GRCm39)	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,623,454 (GRCm39)	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080 (GRCm39)		probably benign	Het
Mapkbp1	C	T	2: 119,853,671 (GRCm39)	A1159V	probably benign	Het
Mgst3	C	T	1: 167,205,860 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,276,076 (GRCm39)	I764V	probably benign	Het
Myo3b	T	A	2: 70,088,425 (GRCm39)	L896*	probably null	Het
Ndufs5	T	G	4: 123,606,628 (GRCm39)	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,710,421 (GRCm39)	P603S	probably damaging	Het
Or6c211	T	A	10: 129,505,980 (GRCm39)	N136I	possibly damaging	Het
Or8g34	A	T	9: 39,373,668 (GRCm39)	M311L	probably benign	Het
Piezo1	T	C	8: 123,219,354 (GRCm39)	N1093S		Het
Pitpnb	G	A	5: 111,533,390 (GRCm39)	R258H	probably benign	Het
Pla2g4d	T	C	2: 120,099,378 (GRCm39)	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,115,608 (GRCm39)	T750S	probably benign	Het
Prrg4	T	G	2: 104,675,399 (GRCm39)	E68A	probably damaging	Het
Rcan2	C	T	17: 44,328,701 (GRCm39)	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,027,093 (GRCm39)	E189G	probably damaging	Het
Satb1	A	G	17: 52,112,293 (GRCm39)	F107S	probably damaging	Het
Sdc3	A	T	4: 130,548,513 (GRCm39)		probably benign	Het
Slc22a3	A	T	17: 12,726,093 (GRCm39)	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,048,027 (GRCm39)		probably null	Het
Slfn1	T	C	11: 83,012,121 (GRCm39)	F79S	probably damaging	Het
Snrpg	G	T	6: 86,353,557 (GRCm39)	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,264,569 (GRCm39)	C508Y	probably benign	Het
Thada	A	T	17: 84,538,564 (GRCm39)	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,779,217 (GRCm39)	V27A	probably benign	Het
Tns1	T	C	1: 74,030,855 (GRCm39)	H300R	probably damaging	Het
Ttc13	C	A	8: 125,401,992 (GRCm39)	G589V	probably benign	Het
Ttc28	A	G	5: 111,040,698 (GRCm39)	I29V	possibly damaging	Het
Tubb4a	T	A	17: 57,387,778 (GRCm39)	N416I	possibly damaging	Het
Ubr4	T	A	4: 139,177,636 (GRCm39)	I1884N		Het
Usp16	A	G	16: 87,266,640 (GRCm39)	K175E	probably benign	Het
Usp24	A	G	4: 106,217,715 (GRCm39)	I479M	probably benign	Het
Utrn	T	C	10: 12,512,531 (GRCm39)	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,974,442 (GRCm39)	V368A	probably benign	Het
Zfp628	T	C	7: 4,923,880 (GRCm39)	S701P	probably damaging	Het

Other mutations in Mtch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGTATGTCAGCTTCCTGGCCTC -3'
(R):5'- TTTCAAGAGAAAGAGATGCCATGC -3'

Sequencing Primer
(F):5'- CCTGGCCTCTTTTGCTATGGTAG -3'
(R):5'- GATGCCATGCCAGAGTTATAAGTAC -3'

Posted On

2022-03-25