Incidental Mutation 'IGL01571:G6pc2'
ID 93302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pc2
Ensembl Gene ENSMUSG00000005232
Gene Name glucose-6-phosphatase, catalytic, 2
Synonyms IGRP, G6pc-rs, islet specific glucose-6-phosphatase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01571
Quality Score
Status
Chromosome 2
Chromosomal Location 69211073-69227841 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69222967 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 122 (V122I)
Ref Sequence ENSEMBL: ENSMUSP00000107936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005364] [ENSMUST00000112317]
AlphaFold Q9Z186
Predicted Effect probably damaging
Transcript: ENSMUST00000005364
AA Change: V122I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: V122I

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 damaging
Transcript: ENSMUST00000112317
AA Change: V122I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: V122I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in G6pc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02031:G6pc2 APN 2 69222991 missense probably benign 0.36
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
R8492:G6pc2 UTSW 2 69220242 missense probably damaging 1.00
R8534:G6pc2 UTSW 2 69220125 missense probably benign 0.00
R8749:G6pc2 UTSW 2 69226796 missense probably damaging 1.00
R8797:G6pc2 UTSW 2 69220097 missense probably benign 0.03
X0040:G6pc2 UTSW 2 69223010 missense probably benign 0.25
Posted On 2013-12-09