Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Gpd2'

619086

Institutional Source

Beutler Lab

Gene Symbol

Gpd2

Ensembl Gene

ENSMUSG00000026827

Gene Name

glycerol phosphate dehydrogenase 2, mitochondrial

Synonyms

Gdm1

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57237635-57370719 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57306950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 172 (Y172*)

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: Y172*

SMART Domains

Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: Y172*

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: Y172*

SMART Domains

Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: Y172*

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

probably null
Transcript: ENSMUST00000169687
AA Change: Y172*

SMART Domains

Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: Y172*

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	TCC	TCCGCC	6: 96,165,097		probably benign	Het
1700123L14Rik	TCC	TCCCCC	6: 96,165,103		probably benign	Het
2010111I01Rik	G	A	13: 63,068,251	V446I	probably damaging	Het
Abi1	T	C	2: 22,953,543	T297A	probably benign	Het
Acadl	G	T	1: 66,853,178	T162K	probably benign	Het
Aldoart2	A	T	12: 55,565,751	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,832,528	V891E	probably benign	Het
Atp8b5	C	T	4: 43,356,982	R577*	probably null	Het
Capn3	G	T	2: 120,486,386	E285D	probably benign	Het
Cd79b	G	T	11: 106,313,700	P87T	probably damaging	Het
Celsr2	T	G	3: 108,412,655	D947A	probably damaging	Het
Csmd3	A	C	15: 47,706,387	S1213R		Het
Cyp2j5	T	C	4: 96,664,004	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019	K49R	probably benign	Het
Dnah10	A	C	5: 124,828,511	E4130A	probably benign	Het
Dst	A	G	1: 34,284,363	D4648G	probably damaging	Het
Ecd	A	G	14: 20,329,952		probably null	Het
Erbin	A	T	13: 103,834,356	Y917*	probably null	Het
Evpl	T	C	11: 116,223,163	K1234E	probably benign	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,601,804	T402S	probably benign	Het
Frem2	T	C	3: 53,549,643	N2096S	probably benign	Het
Gm7697	A	T	8: 69,522,752	Y21N	possibly damaging	Het
Hscb	A	G	5: 110,835,978	V90A	probably benign	Het
Iqgap2	T	C	13: 95,657,879	D1195G	probably damaging	Het
Map2k2	T	C	10: 81,115,066	I115T	probably damaging	Het
Mast2	C	T	4: 116,312,975	R707H	probably damaging	Het
Mindy4	A	G	6: 55,300,992	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,443,743	Y77N	probably damaging	Het
Muc16	G	A	9: 18,659,051	T724I	unknown	Het
Nat3	A	T	8: 67,547,826	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,401,514	S208P	probably damaging	Het
Notch3	A	T	17: 32,146,571	C1056S	probably damaging	Het
Olfr1039	A	T	2: 86,131,377	Y95*	probably null	Het
Olfr146	G	T	9: 39,019,487	T18K	probably damaging	Het
Olfr399	T	A	11: 74,054,475	I95F	probably benign	Het
Olfr71	A	T	4: 43,705,884	V228E	probably damaging	Het
Osbpl3	A	C	6: 50,346,015	L288R	probably damaging	Het
Oscp1	A	C	4: 126,088,323	D352A	possibly damaging	Het
Pcdh9	G	A	14: 93,885,786	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,763,502	S542P	probably benign	Het
Pi4ka	T	C	16: 17,356,166	T490A		Het
Pkd1l1	A	T	11: 8,947,315	D531E		Het
Prr3	G	T	17: 35,979,161	D26E	possibly damaging	Het
Psmd8	T	C	7: 29,180,576	K24E	probably benign	Het
Rasgrp4	G	A	7: 29,149,937	C583Y	probably damaging	Het
Rest	A	G	5: 77,268,324	I128M	probably benign	Het
Rftn1	A	T	17: 50,086,579	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851	F757S	probably benign	Het
Ryr1	A	G	7: 29,083,385	S1942P	probably benign	Het
Sdk2	C	T	11: 113,854,351	R706Q	probably damaging	Het
Sergef	G	T	7: 46,614,638	T275K	probably damaging	Het
Serpina10	T	C	12: 103,628,310	T217A	probably damaging	Het
Shd	G	C	17: 55,976,235	S288T	probably damaging	Het
Siglec15	C	A	18: 78,048,588	A133S	possibly damaging	Het
Stat4	C	T	1: 52,079,773	P325L	probably damaging	Het
Syt8	G	A	7: 142,440,144	G344D	probably damaging	Het
Tes	A	G	6: 17,097,292	E133G	probably benign	Het
Tmprss2	T	C	16: 97,568,416	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,252,106	L365Q	probably damaging	Het
Tns1	T	A	1: 73,953,437	D67V	probably damaging	Het
Tns2	T	C	15: 102,112,845	S982P	probably damaging	Het
Tpcn2	A	T	7: 145,260,946	F473I	probably benign	Het
Tsg101	A	T	7: 46,892,509	I232N	probably damaging	Het
Ttc3	T	C	16: 94,467,989	S1977P	probably benign	Het
Ttll11	T	A	2: 35,979,515	E37V	unknown	Het
Ttn	A	T	2: 76,818,816	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,563,715	S495A	probably benign	Het
Zfp974	A	G	7: 27,911,272	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	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
R0012:Gpd2	UTSW	2	57338868	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
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'- GCAACTATGTGCCAACCCTTC -3'
(R):5'- CAGTGTACTCTCGGTGGTCATC -3'

Sequencing Primer
(F):5'- ATGTGCCAACCCTTCCCACTC -3'
(R):5'- GGTCATCACCGGACAGAAG -3'

Posted On

2020-01-23