Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01816:Gpd2'

154397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpd2

Ensembl Gene

ENSMUSG00000026827

Gene Name

glycerol phosphate dehydrogenase 2, mitochondrial

Synonyms

Gdm1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.647) question?

Stock #

IGL01816

Quality Score

Status

Chromosome

Chromosomal Location

57127690-57260731 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57254078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 601 (Y601*)

Ref Sequence

ENSEMBL: ENSMUSP00000130992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028167] [ENSMUST00000112618] [ENSMUST00000169687]

AlphaFold

Q64521

Predicted Effect

probably null
Transcript: ENSMUST00000028167
AA Change: Y601*

SMART Domains

Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: Y601*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:FAD_binding_2	71	145	5.2e-7	PFAM
Pfam:FAD_oxidored	71	147	2.3e-9	PFAM
Pfam:DAO	71	441	8.9e-52	PFAM
EFh	627	655	1.38e1	SMART
EFh	663	691	1.27e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112618
AA Change: Y619*

SMART Domains

Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: Y619*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:FAD_binding_2	71	143	4.6e-7	PFAM
Pfam:DAO	71	441	2.9e-50	PFAM
Pfam:DAO_C	462	588	2.1e-42	PFAM
EFh	645	673	1.38e1	SMART
EFh	681	709	1.27e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141536

Predicted Effect

probably null
Transcript: ENSMUST00000169687
AA Change: Y601*

SMART Domains

Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: Y601*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:FAD_binding_2	71	145	5.2e-7	PFAM
Pfam:FAD_oxidored	71	147	2.3e-9	PFAM
Pfam:DAO	71	441	8.9e-52	PFAM
EFh	627	655	1.38e1	SMART
EFh	663	691	1.27e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit diminished hepatic ATP levels, decreased adiposity and fasting blood glucose, and, on an inbred background, reductions in preweaning viability and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,677,168 (GRCm39)	T1888S	probably benign	Het
Asxl3	T	C	18: 22,655,545 (GRCm39)	V1185A	probably benign	Het
Bmp8a	G	A	4: 123,210,190 (GRCm39)	R299C	probably damaging	Het
Cactin	T	C	10: 81,161,699 (GRCm39)	Y744H	possibly damaging	Het
Ccr2	A	T	9: 123,906,235 (GRCm39)	I172L	probably benign	Het
Cyp2j11	T	G	4: 96,183,161 (GRCm39)	Q469P	probably damaging	Het
Dync1i1	T	C	6: 5,767,146 (GRCm39)		probably null	Het
Epb41	A	G	4: 131,731,006 (GRCm39)	S192P	probably benign	Het
Ift140	G	A	17: 25,305,999 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,886,605 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,957,840 (GRCm39)		probably benign	Het
Pcdhb13	A	C	18: 37,576,028 (GRCm39)	R135S	probably benign	Het
Phtf2	A	T	5: 21,008,274 (GRCm39)	W136R	probably damaging	Het
Prpf40b	G	A	15: 99,213,099 (GRCm39)	A662T	probably damaging	Het
Retsat	A	G	6: 72,578,588 (GRCm39)	N100S	probably benign	Het
Saxo1	T	A	4: 86,363,851 (GRCm39)	M211L	probably benign	Het
Slc5a9	A	G	4: 111,755,811 (GRCm39)	L29P	probably damaging	Het
St14	A	G	9: 31,019,563 (GRCm39)	V86A	possibly damaging	Het
Tfap4	T	C	16: 4,369,956 (GRCm39)	N13S	probably damaging	Het

Other mutations in Gpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Gpd2	APN	2	57,158,096 (GRCm39)	critical splice donor site	probably null
IGL01012:Gpd2	APN	2	57,254,542 (GRCm39)	missense	probably benign	0.00
IGL01096:Gpd2	APN	2	57,228,879 (GRCm39)	missense	probably damaging	0.98
IGL01642:Gpd2	APN	2	57,158,083 (GRCm39)	nonsense	probably null
IGL02257:Gpd2	APN	2	57,254,536 (GRCm39)	missense	probably benign	0.01
IGL02824:Gpd2	APN	2	57,254,339 (GRCm39)	missense	probably null	0.89
IGL02832:Gpd2	APN	2	57,228,991 (GRCm39)	missense	probably damaging	1.00
IGL03040:Gpd2	APN	2	57,245,805 (GRCm39)	missense	probably benign	0.06
IGL03107:Gpd2	APN	2	57,245,581 (GRCm39)	missense	probably damaging	1.00
IGL03131:Gpd2	APN	2	57,228,855 (GRCm39)	splice site	probably benign
IGL03218:Gpd2	APN	2	57,197,066 (GRCm39)	missense	probably damaging	1.00
IGL03226:Gpd2	APN	2	57,194,498 (GRCm39)	critical splice donor site	probably null
IGL03372:Gpd2	APN	2	57,245,519 (GRCm39)	missense	probably damaging	1.00
R0012:Gpd2	UTSW	2	57,228,880 (GRCm39)	missense	probably damaging	1.00
R0285:Gpd2	UTSW	2	57,228,967 (GRCm39)	missense	probably benign	0.16
R0379:Gpd2	UTSW	2	57,235,275 (GRCm39)	missense	probably damaging	1.00
R0401:Gpd2	UTSW	2	57,230,105 (GRCm39)	missense	possibly damaging	0.94
R1347:Gpd2	UTSW	2	57,247,683 (GRCm39)	missense	probably damaging	0.99
R1347:Gpd2	UTSW	2	57,247,683 (GRCm39)	missense	probably damaging	0.99
R1468:Gpd2	UTSW	2	57,245,786 (GRCm39)	missense	probably damaging	1.00
R1468:Gpd2	UTSW	2	57,245,786 (GRCm39)	missense	probably damaging	1.00
R1490:Gpd2	UTSW	2	57,245,487 (GRCm39)	missense	probably damaging	1.00
R1672:Gpd2	UTSW	2	57,247,712 (GRCm39)	missense	probably damaging	0.97
R1709:Gpd2	UTSW	2	57,247,667 (GRCm39)	missense	probably damaging	1.00
R1735:Gpd2	UTSW	2	57,245,563 (GRCm39)	missense	probably damaging	1.00
R2056:Gpd2	UTSW	2	57,229,025 (GRCm39)	critical splice donor site	probably null
R2959:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R2960:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R2961:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R2962:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R3008:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R3009:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R3881:Gpd2	UTSW	2	57,228,987 (GRCm39)	nonsense	probably null
R4073:Gpd2	UTSW	2	57,180,025 (GRCm39)	missense	probably damaging	1.00
R4153:Gpd2	UTSW	2	57,245,783 (GRCm39)	missense	probably damaging	1.00
R4564:Gpd2	UTSW	2	57,197,095 (GRCm39)	missense	possibly damaging	0.77
R4952:Gpd2	UTSW	2	57,197,025 (GRCm39)	nonsense	probably null
R5030:Gpd2	UTSW	2	57,194,417 (GRCm39)	missense	probably damaging	0.98
R5101:Gpd2	UTSW	2	57,245,913 (GRCm39)	missense	probably damaging	1.00
R5185:Gpd2	UTSW	2	57,230,216 (GRCm39)	missense	probably damaging	1.00
R6020:Gpd2	UTSW	2	57,254,525 (GRCm39)	missense	probably benign	0.18
R6325:Gpd2	UTSW	2	57,194,408 (GRCm39)	missense	probably damaging	0.96
R6536:Gpd2	UTSW	2	57,235,367 (GRCm39)	missense	probably benign	0.40
R6923:Gpd2	UTSW	2	57,245,800 (GRCm39)	missense	probably damaging	0.98
R7058:Gpd2	UTSW	2	57,197,112 (GRCm39)	splice site	probably null
R7380:Gpd2	UTSW	2	57,230,171 (GRCm39)	missense	probably damaging	1.00
R8052:Gpd2	UTSW	2	57,196,962 (GRCm39)	nonsense	probably null
R8098:Gpd2	UTSW	2	57,180,020 (GRCm39)	missense	possibly damaging	0.94
R8467:Gpd2	UTSW	2	57,254,596 (GRCm39)	missense	possibly damaging	0.95
R8851:Gpd2	UTSW	2	57,197,062 (GRCm39)	missense	possibly damaging	0.62
R9515:Gpd2	UTSW	2	57,195,866 (GRCm39)	missense	possibly damaging	0.78

Posted On

2014-02-04