Incidental Mutation 'R8534:G6pc2'
ID 659138
Institutional Source Beutler Lab
Gene Symbol G6pc2
Ensembl Gene ENSMUSG00000005232
Gene Name glucose-6-phosphatase, catalytic, 2
Synonyms IGRP, islet specific glucose-6-phosphatase, G6pc-rs
MMRRC Submission 068503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8534 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 69041417-69058185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69050469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 31 (N31K)
Ref Sequence ENSEMBL: ENSMUSP00000107936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005364] [ENSMUST00000112317]
AlphaFold Q9Z186
Predicted Effect probably benign
Transcript: ENSMUST00000005364
AA Change: N31K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: N31K

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: N31K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: N31K

DomainStartEndE-ValueType
SCOP:d1d2ta_ 6 126 5e-13 SMART
Blast:acidPPc 53 147 1e-65 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A C 2: 19,545,153 (GRCm39) L100R probably damaging Het
6820408C15Rik A G 2: 152,283,182 (GRCm39) D282G probably damaging Het
Abcb11 G T 2: 69,154,190 (GRCm39) N125K possibly damaging Het
Acbd7 A T 2: 3,341,750 (GRCm39) D71V probably damaging Het
Adgrb1 A T 15: 74,415,357 (GRCm39) T646S probably damaging Het
Adgrv1 A G 13: 81,534,887 (GRCm39) Y5793H probably benign Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Ahrr A G 13: 74,368,799 (GRCm39) S125P probably damaging Het
B020011L13Rik C A 1: 117,729,034 (GRCm39) H180Q probably benign Het
Cbfa2t3 T C 8: 123,365,653 (GRCm39) D219G probably damaging Het
Ccdc187 A G 2: 26,165,577 (GRCm39) S860P possibly damaging Het
Ceacam5 A T 7: 17,484,671 (GRCm39) Q471L probably benign Het
Cyp2c54 A C 19: 40,036,030 (GRCm39) D293E probably damaging Het
Dnah1 G T 14: 31,023,805 (GRCm39) N962K probably benign Het
Dst C T 1: 34,229,388 (GRCm39) T2002I probably benign Het
Elavl1 A T 8: 4,339,864 (GRCm39) N239K probably benign Het
Elmod3 A G 6: 72,543,667 (GRCm39) F375L probably benign Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gm6569 G T 15: 73,711,673 (GRCm39) probably benign Het
Insig1 C T 5: 28,280,116 (GRCm39) S236L probably damaging Het
Itih4 A T 14: 30,622,979 (GRCm39) N882I probably benign Het
Kmt5a C A 5: 124,598,635 (GRCm39) D309E probably benign Het
Kndc1 C A 7: 139,503,669 (GRCm39) T991N probably benign Het
Lingo1 T A 9: 56,528,353 (GRCm39) T79S probably benign Het
Myh4 A T 11: 67,134,335 (GRCm39) E330V probably benign Het
Nlrx1 A G 9: 44,174,070 (GRCm39) V377A probably benign Het
Npy5r C A 8: 67,134,688 (GRCm39) G35V probably benign Het
Or5b102 T A 19: 13,041,432 (GRCm39) I219N probably damaging Het
Or7g33 C T 9: 19,448,605 (GRCm39) G207D possibly damaging Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Pcf11 A G 7: 92,302,432 (GRCm39) V1226A probably benign Het
Per2 G A 1: 91,351,659 (GRCm39) T949M probably benign Het
Phc1 G A 6: 122,315,539 (GRCm39) probably benign Het
Pias2 A G 18: 77,185,083 (GRCm39) I55V possibly damaging Het
Pik3r2 A T 8: 71,227,312 (GRCm39) S104T probably benign Het
Pip T C 6: 41,828,421 (GRCm39) V85A probably benign Het
Pms2 T C 5: 143,860,445 (GRCm39) V86A probably benign Het
Potefam1 G A 2: 111,058,380 (GRCm39) P138S possibly damaging Het
Rab44 A G 17: 29,363,547 (GRCm39) probably null Het
Rrbp1 A G 2: 143,830,095 (GRCm39) S691P probably damaging Het
Ruvbl2 A T 7: 45,079,118 (GRCm39) probably null Het
Setbp1 T C 18: 78,826,542 (GRCm39) D1357G possibly damaging Het
Slc12a6 T A 2: 112,174,312 (GRCm39) I476N probably damaging Het
Slc1a1 C T 19: 28,882,746 (GRCm39) P337S probably damaging Het
Slc35b3 T A 13: 39,128,566 (GRCm39) T174S probably benign Het
Slc4a4 A T 5: 89,283,581 (GRCm39) I467F probably damaging Het
Slc50a1 G A 3: 89,177,710 (GRCm39) probably null Het
Spink14 G A 18: 44,164,079 (GRCm39) probably null Het
Spmap2l T A 5: 77,207,325 (GRCm39) I361N probably damaging Het
Tmem59 T C 4: 107,043,082 (GRCm39) probably null Het
Tnr G A 1: 159,746,585 (GRCm39) E1235K probably benign Het
Trpm6 A T 19: 18,869,459 (GRCm39) R2015S probably benign Het
Tsnaxip1 A G 8: 106,565,370 (GRCm39) E132G probably damaging Het
Vps54 A G 11: 21,227,706 (GRCm39) N93S probably benign Het
Wdr17 T G 8: 55,101,265 (GRCm39) I994L probably benign Het
Zfat G T 15: 68,037,696 (GRCm39) H926Q probably damaging Het
Zfp2 C T 11: 50,791,627 (GRCm39) E139K possibly damaging Het
Other mutations in G6pc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:G6pc2 APN 2 69,053,311 (GRCm39) missense probably damaging 1.00
IGL02031:G6pc2 APN 2 69,053,335 (GRCm39) missense probably benign 0.36
IGL02504:G6pc2 APN 2 69,056,939 (GRCm39) missense probably damaging 0.99
IGL02674:G6pc2 APN 2 69,056,910 (GRCm39) critical splice acceptor site probably null
IGL03339:G6pc2 APN 2 69,051,239 (GRCm39) splice site probably benign
R0011:G6pc2 UTSW 2 69,056,909 (GRCm39) splice site probably benign
R1113:G6pc2 UTSW 2 69,050,570 (GRCm39) missense probably damaging 1.00
R1308:G6pc2 UTSW 2 69,050,570 (GRCm39) missense probably damaging 1.00
R1417:G6pc2 UTSW 2 69,053,312 (GRCm39) missense probably damaging 1.00
R1441:G6pc2 UTSW 2 69,051,198 (GRCm39) missense probably damaging 0.97
R1658:G6pc2 UTSW 2 69,057,413 (GRCm39) missense probably damaging 1.00
R1762:G6pc2 UTSW 2 69,051,186 (GRCm39) missense possibly damaging 0.53
R1768:G6pc2 UTSW 2 69,053,321 (GRCm39) missense probably damaging 1.00
R3161:G6pc2 UTSW 2 69,050,456 (GRCm39) missense probably damaging 0.98
R5487:G6pc2 UTSW 2 69,056,921 (GRCm39) missense probably damaging 0.99
R5623:G6pc2 UTSW 2 69,056,927 (GRCm39) missense probably damaging 1.00
R5686:G6pc2 UTSW 2 69,051,128 (GRCm39) missense probably benign 0.03
R7493:G6pc2 UTSW 2 69,053,344 (GRCm39) missense probably benign 0.00
R7733:G6pc2 UTSW 2 69,050,527 (GRCm39) nonsense probably null
R8492:G6pc2 UTSW 2 69,050,586 (GRCm39) missense probably damaging 1.00
R8749:G6pc2 UTSW 2 69,057,140 (GRCm39) missense probably damaging 1.00
R8797:G6pc2 UTSW 2 69,050,441 (GRCm39) missense probably benign 0.03
X0040:G6pc2 UTSW 2 69,053,354 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ATGTCACGTAATGGCTCAGTG -3'
(R):5'- ACATGCACCTGAAACGTGATC -3'

Sequencing Primer
(F):5'- CGTAATGGCTCAGTGCATCAC -3'
(R):5'- TGCACCTGAAACGTGATCACTAAG -3'
Posted On 2021-01-18