Incidental Mutation 'IGL03107:Gpd2'
ID 419012
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: 0.593) question?
Stock # IGL03107
Quality Score
Status
Chromosome 2
Chromosomal Location 57127690-57260731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57245581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 425 (S425R)
Ref Sequence ENSEMBL: ENSMUSP00000130992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028167] [ENSMUST00000112618] [ENSMUST00000169687]
AlphaFold Q64521
Predicted Effect probably damaging
Transcript: ENSMUST00000028167
AA Change: S425R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827
AA Change: S425R

DomainStartEndE-ValueType
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: S425R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827
AA Change: S425R

DomainStartEndE-ValueType
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: S425R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827
AA Change: S425R

DomainStartEndE-ValueType
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Gpd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL01816:Gpd2 APN 2 57,254,078 (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
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 2016-08-02