Incidental Mutation 'IGL02031:G6pc2'
ID184370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pc2
Ensembl Gene ENSMUSG00000005232
Gene Nameglucose-6-phosphatase, catalytic, 2
SynonymsIGRP, G6pc-rs, islet specific glucose-6-phosphatase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02031
Quality Score
Status
Chromosome2
Chromosomal Location69211073-69227841 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 69222991 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 130 (A130T)
Ref Sequence ENSEMBL: ENSMUSP00000107936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005364] [ENSMUST00000112317]
Predicted Effect probably benign
Transcript: ENSMUST00000005364
AA Change: A130T

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: A130T

DomainStartEndE-ValueType
acidPPc 53 194 7.83e-21 SMART
transmembrane domain 212 234 N/A INTRINSIC
transmembrane domain 254 273 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112317
AA Change: A130T

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: A130T

DomainStartEndE-ValueType
SCOP:d1d2ta_ 6 126 5e-13 SMART
Blast:acidPPc 53 147 1e-65 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151953
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an enzyme that belongs to the glucose-6-phosphatase catalytic subunit family. Members of this family catalyze the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, to release glucose into the bloodstream. The family member encoded by this gene is found specifically in pancreatic islets but has not been shown to have phosphotransferase or phosphatase activity exhibited by a similar liver enzyme. The non-obese diabetic (NOD) mouse is a model for human type 1 diabetes, an autoimmune disease in which T lymphocytes attack and destroy insulin-producing pancreatic beta cells. In NOD mice, the protein encoded by this gene is a major target of cell-mediated autoimmunity. Variations in the human and mouse genes are associated with lower fasting plasma glucose levels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a disruption of this gene show a significant drop in fasting blood glucose. Females also show a significant drop in plasma triacylglycerol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,179,769 F230S probably damaging Het
4931408C20Rik A G 1: 26,685,023 Y359H probably damaging Het
Aipl1 T C 11: 72,030,202 probably benign Het
Akap11 T C 14: 78,513,813 D378G possibly damaging Het
Ankrd33b A T 15: 31,325,183 F129L probably damaging Het
Apob A G 12: 8,015,222 K4064E probably benign Het
Arhgef10l T C 4: 140,575,345 D506G probably damaging Het
Arid4b A C 13: 14,153,412 probably benign Het
Ccdc88c A T 12: 100,933,311 Y1263N probably damaging Het
Ckap5 T C 2: 91,612,772 L1697P possibly damaging Het
Cpxm1 C T 2: 130,393,681 V464M probably damaging Het
Dhrs7c A G 11: 67,815,889 E291G probably benign Het
Dst C A 1: 34,189,917 P1872H possibly damaging Het
Gm4847 A G 1: 166,635,009 V304A probably damaging Het
Gm8267 T C 14: 44,717,917 D155G possibly damaging Het
Kank1 G A 19: 25,410,702 V580I probably benign Het
Kcnh4 A G 11: 100,745,823 S757P probably damaging Het
Krt34 C A 11: 100,039,023 A216S possibly damaging Het
Mfhas1 A T 8: 35,589,372 I334F probably damaging Het
Mrgprb8 A G 7: 48,389,339 M253V probably benign Het
Olfr503 A T 7: 108,544,930 H133L probably benign Het
Pp2d1 T A 17: 53,508,440 T419S probably damaging Het
Pprc1 T A 19: 46,072,343 probably benign Het
Reln A G 5: 21,979,016 S1662P probably damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Serinc2 C T 4: 130,264,444 W15* probably null Het
Serpina3k A G 12: 104,345,266 T368A probably benign Het
Setd3 A T 12: 108,163,030 W54R probably damaging Het
Slc9c1 G A 16: 45,599,470 S1001N probably benign Het
Snapc3 A G 4: 83,417,976 D75G probably benign Het
Stard9 T C 2: 120,702,339 S333P probably benign Het
Utrn T C 10: 12,735,204 D469G probably damaging Het
Other mutations in G6pc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:G6pc2 APN 2 69222967 missense probably damaging 1.00
IGL02504:G6pc2 APN 2 69226595 missense probably damaging 0.99
IGL02674:G6pc2 APN 2 69226566 critical splice acceptor site probably null
IGL03339:G6pc2 APN 2 69220895 splice site probably benign
R0011:G6pc2 UTSW 2 69226565 splice site probably benign
R1113:G6pc2 UTSW 2 69220226 missense probably damaging 1.00
R1308:G6pc2 UTSW 2 69220226 missense probably damaging 1.00
R1417:G6pc2 UTSW 2 69222968 missense probably damaging 1.00
R1441:G6pc2 UTSW 2 69220854 missense probably damaging 0.97
R1658:G6pc2 UTSW 2 69227069 missense probably damaging 1.00
R1762:G6pc2 UTSW 2 69220842 missense possibly damaging 0.53
R1768:G6pc2 UTSW 2 69222977 missense probably damaging 1.00
R3161:G6pc2 UTSW 2 69220112 missense probably damaging 0.98
R5487:G6pc2 UTSW 2 69226577 missense probably damaging 0.99
R5623:G6pc2 UTSW 2 69226583 missense probably damaging 1.00
R5686:G6pc2 UTSW 2 69220784 missense probably benign 0.03
R7493:G6pc2 UTSW 2 69223000 missense probably benign 0.00
R7733:G6pc2 UTSW 2 69220183 nonsense probably null
X0040:G6pc2 UTSW 2 69223010 missense probably benign 0.25
Posted On2014-05-07