Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:L2hgdh'

17843

Institutional Source

Beutler Lab

Gene Symbol

L2hgdh

Ensembl Gene

ENSMUSG00000020988

Gene Name

L-2-hydroxyglutarate dehydrogenase

Synonyms

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69737210-69771648 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69752563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 239 (Y239*)

Ref Sequence

ENSEMBL: ENSMUSP00000021370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021370]

AlphaFold

Q91YP0

Predicted Effect

probably null
Transcript: ENSMUST00000021370
AA Change: Y239*

SMART Domains

Protein: ENSMUSP00000021370
Gene: ENSMUSG00000020988
AA Change: Y239*

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:DAO	51	457	1.9e-72	PFAM

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit increased levels of lysine and arginine associated with decreases in saccharopine, glutamine, and glutamate in adult brains, neurobehavioral deficits, and brain spongiosis with vacuolar lesions mostly affecting oligodendrocytes and myelin sheaths. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,478,200 (GRCm39)		probably benign	Het
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abca5	A	T	11: 110,210,651 (GRCm39)	L176Q	probably damaging	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
Bpifb4	A	G	2: 153,782,888 (GRCm39)	D31G	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Cldn25	A	G	9: 48,958,933 (GRCm39)		noncoding transcript	Het
Col11a2	A	G	17: 34,276,249 (GRCm39)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dntt	A	T	19: 41,044,185 (GRCm39)		probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,033,168 (GRCm39)	P124L	probably benign	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,528,176 (GRCm39)	K175R	probably benign	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Macf1	G	A	4: 123,302,357 (GRCm39)	T715I	probably benign	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,068,528 (GRCm39)		probably benign	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Tmem131l	C	T	3: 83,842,122 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Trpm4	A	G	7: 44,968,664 (GRCm39)		probably null	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	Het

Other mutations in L2hgdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:L2hgdh	APN	12	69,748,208 (GRCm39)	missense	possibly damaging	0.67
IGL01505:L2hgdh	APN	12	69,768,175 (GRCm39)	missense	probably damaging	1.00
IGL01871:L2hgdh	APN	12	69,768,869 (GRCm39)	missense	probably damaging	1.00
IGL02169:L2hgdh	APN	12	69,768,171 (GRCm39)	missense	probably damaging	1.00
IGL02253:L2hgdh	APN	12	69,752,534 (GRCm39)	splice site	probably benign
IGL02670:L2hgdh	APN	12	69,739,254 (GRCm39)	missense	possibly damaging	0.86
IGL03069:L2hgdh	APN	12	69,739,173 (GRCm39)	missense	probably benign
R0054:L2hgdh	UTSW	12	69,768,105 (GRCm39)	missense	possibly damaging	0.82
R0106:L2hgdh	UTSW	12	69,752,563 (GRCm39)	nonsense	probably null
R0579:L2hgdh	UTSW	12	69,748,046 (GRCm39)	splice site	probably benign
R1421:L2hgdh	UTSW	12	69,748,092 (GRCm39)	missense	probably benign
R1797:L2hgdh	UTSW	12	69,746,340 (GRCm39)	missense	probably benign
R3082:L2hgdh	UTSW	12	69,768,858 (GRCm39)	missense	probably benign	0.00
R7640:L2hgdh	UTSW	12	69,768,131 (GRCm39)	nonsense	probably null
R9087:L2hgdh	UTSW	12	69,749,131 (GRCm39)	missense	probably benign
R9582:L2hgdh	UTSW	12	69,739,172 (GRCm39)	missense	probably benign	0.02
Z1176:L2hgdh	UTSW	12	69,753,906 (GRCm39)	missense	probably benign	0.02

Posted On

2013-03-25