Incidental Mutation 'R2056:Gpd2'
ID 228158
Institutional Source Beutler Lab
Gene Symbol Gpd2
Ensembl Gene ENSMUSG00000026827
Gene Name glycerol phosphate dehydrogenase 2, mitochondrial
Synonyms Gdm1
MMRRC Submission 040061-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R2056 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 57127690-57260731 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 57229025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028167] [ENSMUST00000028167] [ENSMUST00000028167] [ENSMUST00000112618] [ENSMUST00000112618] [ENSMUST00000112618] [ENSMUST00000169687] [ENSMUST00000169687] [ENSMUST00000169687]
AlphaFold Q64521
Predicted Effect probably null
Transcript: ENSMUST00000028167
SMART Domains Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827

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 null
Transcript: ENSMUST00000028167
SMART Domains Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827

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 null
Transcript: ENSMUST00000028167
SMART Domains Protein: ENSMUSP00000028167
Gene: ENSMUSG00000026827

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 null
Transcript: ENSMUST00000112618
SMART Domains Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827

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 probably null
Transcript: ENSMUST00000112618
SMART Domains Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827

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 probably null
Transcript: ENSMUST00000112618
SMART Domains Protein: ENSMUSP00000108237
Gene: ENSMUSG00000026827

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 null
Transcript: ENSMUST00000169687
SMART Domains Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827

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 null
Transcript: ENSMUST00000169687
SMART Domains Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827

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 null
Transcript: ENSMUST00000169687
SMART Domains Protein: ENSMUSP00000130992
Gene: ENSMUSG00000026827

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adh1 A G 3: 137,992,676 (GRCm39) D264G probably damaging Het
Ahnak2 T A 12: 112,748,626 (GRCm39) D407V probably benign Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,809,553 (GRCm39) I662V possibly damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apc A G 18: 34,449,481 (GRCm39) R2092G probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Brap G A 5: 121,801,529 (GRCm39) G95S probably damaging Het
Cbfa2t2 G A 2: 154,377,077 (GRCm39) A587T probably damaging Het
Ccdc180 A G 4: 45,932,477 (GRCm39) I1308V probably benign Het
Ccser1 T A 6: 61,399,936 (GRCm39) probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Cntln G A 4: 84,967,911 (GRCm39) R710K probably benign Het
Csn1s1 A T 5: 87,819,387 (GRCm39) T15S possibly damaging Het
Cul9 T C 17: 46,854,298 (GRCm39) T135A probably benign Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dhx38 G T 8: 110,289,352 (GRCm39) probably benign Het
Dis3 A T 14: 99,336,251 (GRCm39) I85N possibly damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dscaml1 A G 9: 45,661,430 (GRCm39) D1776G probably damaging Het
Erbin A G 13: 103,966,824 (GRCm39) S1209P probably benign Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fbxo45 G T 16: 32,057,346 (GRCm39) Q183K possibly damaging Het
Frmd4b C T 6: 97,389,448 (GRCm39) probably null Het
Fzd7 A G 1: 59,523,361 (GRCm39) S415G probably benign Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gstcd T C 3: 132,787,814 (GRCm39) I295V probably benign Het
Gucy1a1 A G 3: 82,016,592 (GRCm39) L132P possibly damaging Het
Il12b A C 11: 44,298,727 (GRCm39) T61P probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Itih3 A C 14: 30,631,481 (GRCm39) probably null Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Kif11 A G 19: 37,390,660 (GRCm39) N408D probably benign Het
Kng2 TATGACCATGACCATGACCATGACCATGACCATGACCAT TATGACCATGACCATGACCATGACCATGACCAT 16: 22,806,703 (GRCm39) probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Krt9 G T 11: 100,082,321 (GRCm39) N201K probably damaging Het
Lmbr1 G A 5: 29,438,092 (GRCm39) P304L probably benign Het
Lrrfip1 A G 1: 91,043,539 (GRCm39) N648S probably benign Het
Mab21l3 C A 3: 101,722,469 (GRCm39) V386L possibly damaging Het
Mamdc4 T C 2: 25,454,180 (GRCm39) Q1149R probably benign Het
Mast1 A G 8: 85,646,995 (GRCm39) F677L possibly damaging Het
Mcoln3 A G 3: 145,833,979 (GRCm39) D173G probably benign Het
Mmrn1 C T 6: 60,921,789 (GRCm39) T82I probably benign Het
Mtcl2 C T 2: 156,864,747 (GRCm39) G1154S probably benign Het
Muc5ac A G 7: 141,345,772 (GRCm39) T203A probably benign Het
Myo9b T C 8: 71,812,334 (GRCm39) I2035T possibly damaging Het
Ndst3 T C 3: 123,465,534 (GRCm39) N146S probably damaging Het
Neu4 A G 1: 93,950,172 (GRCm39) T21A possibly damaging Het
Nos1ap G A 1: 170,155,215 (GRCm39) L267F probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or3a4 A T 11: 73,944,819 (GRCm39) Y255* probably null Het
Or4p8 A G 2: 88,727,105 (GRCm39) F279L probably damaging Het
Phc1 T C 6: 122,310,299 (GRCm39) N136S probably damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Psd2 A G 18: 36,139,744 (GRCm39) D596G possibly damaging Het
Psmc3 T C 2: 90,888,433 (GRCm39) F315L probably benign Het
Rerg G A 6: 137,034,878 (GRCm39) T42I probably benign Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Sap30 T C 8: 57,940,282 (GRCm39) probably null Het
Scn2b T C 9: 45,036,815 (GRCm39) Y108H probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb2 T C 1: 107,451,543 (GRCm39) V232A probably damaging Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Slc27a4 T C 2: 29,700,953 (GRCm39) W320R probably damaging Het
Spmip4 T C 6: 50,550,725 (GRCm39) R575G possibly damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thbs4 T A 13: 92,927,387 (GRCm39) D34V probably benign Het
Tlcd4 T G 3: 121,001,070 (GRCm39) I188L probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmod2 T C 9: 75,484,524 (GRCm39) E248G probably benign Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ttn T C 2: 76,615,882 (GRCm39) D8360G possibly damaging Het
Unc80 A G 1: 66,679,711 (GRCm39) E2094G possibly damaging Het
Vmn2r18 A T 5: 151,508,160 (GRCm39) D321E 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGACACACTTCTGTACCACC -3'
(R):5'- AAATTGGCAAGTCCCACAAGG -3'

Sequencing Primer
(F):5'- TGTACCACCCGTCCGTG -3'
(R):5'- AGGGTGACAGACAAATCC -3'
Posted On 2014-09-17