Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Mdh2'

382741

Institutional Source

Beutler Lab

Gene Symbol

Mdh2

Ensembl Gene

ENSMUSG00000019179

Gene Name

malate dehydrogenase 2, NAD (mitochondrial)

Synonyms

Mor-1, Mor1, Mdh-2

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135807503-135819240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135812263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 57 (D57E)

Ref Sequence

ENSEMBL: ENSMUSP00000143748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019323] [ENSMUST00000138101] [ENSMUST00000196285] [ENSMUST00000200556]

AlphaFold

P08249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019323
AA Change: D57E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019323
Gene: ENSMUSG00000019179
AA Change: D57E

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Ldh_1_N	25	168	7.2e-50	PFAM
Pfam:Ldh_1_C	170	334	4.9e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130795

Predicted Effect

probably benign
Transcript: ENSMUST00000138101

SMART Domains

Protein: ENSMUSP00000136225
Gene: ENSMUSG00000019179

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143747

Predicted Effect

probably damaging
Transcript: ENSMUST00000196285
AA Change: D57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143748
Gene: ENSMUSG00000019179
AA Change: D57E

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Ldh_1_N	25	79	9.5e-14	PFAM
Pfam:Ldh_1_N	74	140	8.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197909

Predicted Effect

probably damaging
Transcript: ENSMUST00000200556
AA Change: D34E

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

SMART Domains

Protein: ENSMUSP00000142993
Gene: ENSMUSG00000019179
AA Change: D34E

Domain	Start	End	E-Value	Type
Pfam:Ldh_1_N	9	145	1.7e-39	PFAM
Pfam:Ldh_1_C	147	198	3.8e-13	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,026,899 (GRCm39)	D910G	probably benign	Het
Amy1	C	T	3: 113,363,026 (GRCm39)		probably null	Het
C1s2	A	G	6: 124,612,598 (GRCm39)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Cdyl2	A	G	8: 117,302,008 (GRCm39)	C458R	probably damaging	Het
Cep112	T	C	11: 108,325,062 (GRCm39)	S35P	probably damaging	Het
Chd9	T	C	8: 91,760,336 (GRCm39)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,294,436 (GRCm39)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,286,236 (GRCm39)		probably null	Het
Dis3l	A	C	9: 64,214,483 (GRCm39)	S919A	probably benign	Het
Dnah8	A	G	17: 30,882,275 (GRCm39)	T616A	probably benign	Het
Emx2	A	G	19: 59,447,678 (GRCm39)	T11A	probably damaging	Het
Fbxl18	A	G	5: 142,871,840 (GRCm39)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,601,187 (GRCm39)	T311I	probably damaging	Het
Fhip1b	A	T	7: 105,038,542 (GRCm39)	D232E	probably damaging	Het
Fstl5	C	T	3: 76,317,801 (GRCm39)	Q156*	probably null	Het
Ggn	G	T	7: 28,871,621 (GRCm39)	G334C	probably damaging	Het
Grik2	T	C	10: 49,008,841 (GRCm39)	N749D	probably damaging	Het
Helb	A	G	10: 119,946,786 (GRCm39)	S176P	probably benign	Het
Hyal1	A	G	9: 107,456,153 (GRCm39)	D73G	probably benign	Het
Ifi205	C	A	1: 173,842,574 (GRCm39)	R374I	probably benign	Het
Ift172	A	T	5: 31,429,460 (GRCm39)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,909,845 (GRCm39)	S26T	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Jam3	A	G	9: 27,009,669 (GRCm39)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,637,659 (GRCm39)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,406,946 (GRCm39)	V250A	probably benign	Het
Lama1	A	G	17: 68,044,677 (GRCm39)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,364,846 (GRCm39)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,917,382 (GRCm39)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,545,668 (GRCm39)	I489V	probably benign	Het
Mfsd2a	A	G	4: 122,844,302 (GRCm39)	S282P	probably benign	Het
Midn	T	A	10: 79,986,018 (GRCm39)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,680,907 (GRCm39)		probably benign	Het
Myh10	A	G	11: 68,689,197 (GRCm39)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,478,449 (GRCm39)	S155P	possibly damaging	Het
Or2g7	A	T	17: 38,378,638 (GRCm39)	H192L	possibly damaging	Het
Or2t46	A	G	11: 58,472,455 (GRCm39)	T262A	possibly damaging	Het
Or52ab7	A	T	7: 102,978,040 (GRCm39)	M116L	probably benign	Het
Pex7	T	C	10: 19,745,078 (GRCm39)	T258A	probably benign	Het
Plg	A	G	17: 12,621,976 (GRCm39)	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,971,337 (GRCm39)	S144T	probably damaging	Het
Prkch	T	C	12: 73,749,667 (GRCm39)	F420S	possibly damaging	Het
Psg26	A	G	7: 18,209,235 (GRCm39)	V391A	probably benign	Het
Psg29	G	A	7: 16,942,556 (GRCm39)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,699,574 (GRCm39)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,123 (GRCm39)		probably benign	Het
Runx1	T	A	16: 92,441,235 (GRCm39)		probably null	Het
Sapcd1	A	T	17: 35,245,427 (GRCm39)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,332 (GRCm39)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,183,314 (GRCm39)	E59K	probably benign	Het
Slc8b1	A	G	5: 120,662,352 (GRCm39)	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,603,283 (GRCm39)	M221I	probably benign	Het
Smg5	C	T	3: 88,263,032 (GRCm39)	Q812*	probably null	Het
Smr3a	T	G	5: 88,155,962 (GRCm39)		probably null	Het
Syt9	G	A	7: 107,103,479 (GRCm39)	D426N	probably damaging	Het
Tcf25	T	C	8: 124,115,374 (GRCm39)	Y204H	probably benign	Het
Tmeff2	T	A	1: 51,018,715 (GRCm39)	C232*	probably null	Het
Tmem184a	C	A	5: 139,793,757 (GRCm39)	G219V	probably null	Het
Tnc	G	T	4: 63,924,485 (GRCm39)	T1071K	possibly damaging	Het
Tnn	C	A	1: 159,948,188 (GRCm39)	G842W	probably damaging	Het
Tshz3	T	A	7: 36,470,615 (GRCm39)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,397,391 (GRCm39)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,847,693 (GRCm39)		probably null	Het
Usp34	G	C	11: 23,438,982 (GRCm39)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,887,726 (GRCm39)	E10G	probably damaging	Het
Xdh	A	T	17: 74,205,965 (GRCm39)	F1016L	probably benign	Het
Zfp235	T	G	7: 23,841,609 (GRCm39)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,186,811 (GRCm39)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,195,731 (GRCm39)	S163P	probably damaging	Het
Zfp93	A	G	7: 23,974,836 (GRCm39)	I274V	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het

Other mutations in Mdh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Mdh2	APN	5	135,815,138 (GRCm39)	missense	probably damaging	1.00
IGL01413:Mdh2	APN	5	135,814,879 (GRCm39)	missense	probably damaging	0.99
IGL01418:Mdh2	APN	5	135,814,879 (GRCm39)	missense	probably damaging	0.99
IGL03290:Mdh2	APN	5	135,818,567 (GRCm39)	missense	probably damaging	1.00
R0396:Mdh2	UTSW	5	135,818,533 (GRCm39)	missense	probably benign
R0492:Mdh2	UTSW	5	135,819,004 (GRCm39)	missense	possibly damaging	0.54
R5162:Mdh2	UTSW	5	135,812,329 (GRCm39)	critical splice donor site	probably null
R5839:Mdh2	UTSW	5	135,812,146 (GRCm39)	splice site	probably null
R6821:Mdh2	UTSW	5	135,818,525 (GRCm39)	missense	possibly damaging	0.49
R8690:Mdh2	UTSW	5	135,814,882 (GRCm39)	missense	probably benign	0.39
R8734:Mdh2	UTSW	5	135,812,983 (GRCm39)	intron	probably benign
R8973:Mdh2	UTSW	5	135,819,019 (GRCm39)	missense	possibly damaging	0.71
Z1176:Mdh2	UTSW	5	135,818,483 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAACTGGTTGATATGGCTGCTG -3'
(R):5'- AAAATGAGCCTGCAGCCCTC -3'

Sequencing Primer
(F):5'- GGGCATTTCGTCATCTTAGAGCC -3'
(R):5'- GCAGCCCTCAGGTTCACCTATG -3'

Posted On

2016-04-27