Incidental Mutation 'IGL03131:Gpd2'
ID 410360
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 # IGL03131
Quality Score
Status
Chromosome 2
Chromosomal Location 57127690-57260731 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 57228855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028167] [ENSMUST00000112618] [ENSMUST00000169687]
AlphaFold Q64521
Predicted Effect probably benign
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 benign
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 benign
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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Acvr2b C A 9: 119,260,350 (GRCm39) F364L possibly damaging Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Agap3 A G 5: 24,682,130 (GRCm39) T392A probably benign Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Bsph1 A T 7: 13,207,012 (GRCm39) K129N probably damaging Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crnkl1 T C 2: 145,774,178 (GRCm39) K95R probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dmc1 T A 15: 79,452,892 (GRCm39) I246L probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Slc34a3 T G 2: 25,121,246 (GRCm39) D307A probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P 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
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