Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Gpd2'

32526

Institutional Source

Beutler Lab

Gene Symbol

Gpd2

Ensembl Gene

ENSMUSG00000026827

Gene Name

glycerol phosphate dehydrogenase 2, mitochondrial

Synonyms

Gdm1

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57237635-57370719 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57338868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 228 (M228K)

Ref Sequence

ENSEMBL: ENSMUSP00000108237 (fasta)

Gene Model

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

AlphaFold

Q64521

Predicted Effect

probably damaging
Transcript: ENSMUST00000028167
AA Change: M228K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: M228K

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 damaging
Transcript: ENSMUST00000112618
AA Change: M228K

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

SMART Domains

Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: M228K

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 damaging
Transcript: ENSMUST00000169687
AA Change: M228K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: M228K

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

Meta Mutation Damage Score

0.9678

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 131,052,920	L687Q	probably damaging	Het
Adap1	A	G	5: 139,307,734		probably benign	Het
Add2	T	A	6: 86,098,628	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,381,749	I266F	probably damaging	Het
Anxa9	A	G	3: 95,308,095		probably benign	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Asna1	T	C	8: 85,025,096		probably benign	Het
Bnip3	A	G	7: 138,898,672		probably benign	Het
Brwd1	A	C	16: 96,059,652	S311R	probably damaging	Het
C2cd3	G	A	7: 100,418,522	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,564,253	W145R	probably damaging	Het
Celf5	C	A	10: 81,469,512	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519	L392F	possibly damaging	Het
Chd2	G	T	7: 73,455,519	T192K	probably damaging	Het
Chrna10	T	C	7: 102,115,057	N40S	possibly damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,564,929		probably benign	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Col5a3	A	T	9: 20,777,108		probably benign	Het
Copb1	T	A	7: 114,237,408	K366N	probably damaging	Het
Cul9	G	A	17: 46,538,510	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,187,243	L7Q	probably null	Het
Dock2	T	C	11: 34,783,795	E10G	possibly damaging	Het
Dpysl4	T	G	7: 139,097,883	I412S	probably benign	Het
Eaf2	T	A	16: 36,808,174		probably benign	Het
Fasl	T	C	1: 161,788,164	D41G	probably benign	Het
Fat2	A	G	11: 55,262,871	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,621,994	F101S	probably damaging	Het
Fdft1	T	C	14: 63,177,698	I28M	probably benign	Het
Gcnt3	T	C	9: 70,034,085	I400M	probably benign	Het
Gsap	T	A	5: 21,226,229		probably benign	Het
Hipk1	A	G	3: 103,763,680	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,260,725	I17F	probably damaging	Het
Ints10	C	A	8: 68,807,475	L284M	probably benign	Het
Kif17	T	G	4: 138,293,748	S606A	probably damaging	Het
Lifr	C	A	15: 7,175,608	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,865,332	L127P	probably damaging	Het
Lyst	A	G	13: 13,687,694	H2605R	probably benign	Het
Map3k4	A	G	17: 12,238,189	S1289P	probably damaging	Het
Mgam	T	A	6: 40,765,256		probably null	Het
Mob1b	G	A	5: 88,756,084		probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,418,980		probably benign	Het
Mthfd2l	A	T	5: 90,961,383	H224L	probably damaging	Het
Myh8	T	C	11: 67,300,021	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,730,744		probably benign	Het
Nos1	A	C	5: 117,893,902	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,370,125	Q340L	possibly damaging	Het
Olfr1318	A	T	2: 112,156,826	N292Y	possibly damaging	Het
Olfr1502	C	A	19: 13,861,823	T10K	probably damaging	Het
Olfr170	T	C	16: 19,606,440	N76S	probably benign	Het
Olfr427	T	G	1: 174,100,207	F250V	probably damaging	Het
Orc1	T	C	4: 108,595,646		probably null	Het
Plekhg5	C	A	4: 152,104,750	D249E	probably benign	Het
Plet1	A	G	9: 50,499,130	I74V	probably benign	Het
Psmd2	T	A	16: 20,661,684	D718E	probably damaging	Het
Rab33b	G	T	3: 51,484,316		probably benign	Het
Rae1	T	A	2: 173,002,673	F4I	unknown	Het
Ralgapa2	A	G	2: 146,412,752	Y821H	probably benign	Het
Scd2	G	A	19: 44,301,246	V227I	probably benign	Het
Sharpin	G	T	15: 76,348,343	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,999,629	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,228,549	V1061A	probably benign	Het
Suclg1	A	G	6: 73,270,997	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,957,022	C197R	probably benign	Het
Tbx15	A	G	3: 99,352,096	T428A	probably benign	Het
Tet2	T	C	3: 133,476,558	Y1215C	probably damaging	Het
Tjp1	A	G	7: 65,329,775		probably benign	Het
Tmem209	G	T	6: 30,502,113		probably benign	Het
Tnpo3	T	C	6: 29,589,177	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,444,718	M464K	probably damaging	Het
Ttc32	A	G	12: 9,035,897	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,507,391	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,395,040		probably benign	Het
Vmn2r100	A	G	17: 19,504,874	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,526,034	E485V	probably damaging	Het
Wdr24	G	A	17: 25,827,113	V471I	probably benign	Het
Zfp35	T	A	18: 24,002,944	M115K	probably benign	Het
Zfp429	G	A	13: 67,390,677	S216L	probably benign	Het
Zfp644	T	G	5: 106,635,043	E1155A	probably benign	Het

Other mutations in Gpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Gpd2	APN	2	57268084	critical splice donor site	probably null
IGL01012:Gpd2	APN	2	57364530	missense	probably benign	0.00
IGL01096:Gpd2	APN	2	57338867	missense	probably damaging	0.98
IGL01642:Gpd2	APN	2	57268071	nonsense	probably null
IGL01816:Gpd2	APN	2	57364066	nonsense	probably null
IGL02257:Gpd2	APN	2	57364524	missense	probably benign	0.01
IGL02824:Gpd2	APN	2	57364327	missense	probably null	0.89
IGL02832:Gpd2	APN	2	57338979	missense	probably damaging	1.00
IGL03040:Gpd2	APN	2	57355793	missense	probably benign	0.06
IGL03107:Gpd2	APN	2	57355569	missense	probably damaging	1.00
IGL03131:Gpd2	APN	2	57338843	splice site	probably benign
IGL03218:Gpd2	APN	2	57307054	missense	probably damaging	1.00
IGL03226:Gpd2	APN	2	57304486	critical splice donor site	probably null
IGL03372:Gpd2	APN	2	57355507	missense	probably damaging	1.00
R0285:Gpd2	UTSW	2	57338955	missense	probably benign	0.16
R0379:Gpd2	UTSW	2	57345263	missense	probably damaging	1.00
R0401:Gpd2	UTSW	2	57340093	missense	possibly damaging	0.94
R1347:Gpd2	UTSW	2	57357671	missense	probably damaging	0.99
R1347:Gpd2	UTSW	2	57357671	missense	probably damaging	0.99
R1468:Gpd2	UTSW	2	57355774	missense	probably damaging	1.00
R1468:Gpd2	UTSW	2	57355774	missense	probably damaging	1.00
R1490:Gpd2	UTSW	2	57355475	missense	probably damaging	1.00
R1672:Gpd2	UTSW	2	57357700	missense	probably damaging	0.97
R1709:Gpd2	UTSW	2	57357655	missense	probably damaging	1.00
R1735:Gpd2	UTSW	2	57355551	missense	probably damaging	1.00
R2056:Gpd2	UTSW	2	57339013	critical splice donor site	probably null
R2959:Gpd2	UTSW	2	57338975	nonsense	probably null
R2960:Gpd2	UTSW	2	57338975	nonsense	probably null
R2961:Gpd2	UTSW	2	57338975	nonsense	probably null
R2962:Gpd2	UTSW	2	57338975	nonsense	probably null
R3008:Gpd2	UTSW	2	57338975	nonsense	probably null
R3009:Gpd2	UTSW	2	57338975	nonsense	probably null
R3881:Gpd2	UTSW	2	57338975	nonsense	probably null
R4073:Gpd2	UTSW	2	57290013	missense	probably damaging	1.00
R4153:Gpd2	UTSW	2	57355771	missense	probably damaging	1.00
R4564:Gpd2	UTSW	2	57307083	missense	possibly damaging	0.77
R4952:Gpd2	UTSW	2	57307013	nonsense	probably null
R5030:Gpd2	UTSW	2	57304405	missense	probably damaging	0.98
R5101:Gpd2	UTSW	2	57355901	missense	probably damaging	1.00
R5185:Gpd2	UTSW	2	57340204	missense	probably damaging	1.00
R6020:Gpd2	UTSW	2	57364513	missense	probably benign	0.18
R6325:Gpd2	UTSW	2	57304396	missense	probably damaging	0.96
R6536:Gpd2	UTSW	2	57345355	missense	probably benign	0.40
R6923:Gpd2	UTSW	2	57355788	missense	probably damaging	0.98
R7058:Gpd2	UTSW	2	57307100	splice site	probably null
R7380:Gpd2	UTSW	2	57340159	missense	probably damaging	1.00
R8052:Gpd2	UTSW	2	57306950	nonsense	probably null
R8098:Gpd2	UTSW	2	57290008	missense	possibly damaging	0.94
R8467:Gpd2	UTSW	2	57364584	missense	possibly damaging	0.95
R8851:Gpd2	UTSW	2	57307050	missense	possibly damaging	0.62
R9515:Gpd2	UTSW	2	57305854	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CCCGAGGATGACCACATATTTCCAG -3'
(R):5'- AGCCAGGCATTGTTGACTGTAAGG -3'

Sequencing Primer
(F):5'- GACAGGGACAGATGTGACAT -3'
(R):5'- AGATGACTGAAGTCTGCCTTTCAC -3'

Posted On

2013-05-09