Incidental Mutation 'R1658:G6pc2'
ID 186505
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 039694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1658 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69041417-69058185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69057413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 353 (K353M)
Ref Sequence ENSEMBL: ENSMUSP00000005364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005364] [ENSMUST00000112317]
AlphaFold Q9Z186
Predicted Effect probably damaging
Transcript: ENSMUST00000005364
AA Change: K353M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: K353M

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
SMART Domains Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T G 5: 129,255,164 (GRCm39) S604A probably benign Het
Apbb1 G A 7: 105,223,291 (GRCm39) P107S probably damaging Het
Baz2a T A 10: 127,960,252 (GRCm39) M1489K probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdca2 A G 14: 67,915,148 (GRCm39) S704P possibly damaging Het
Cemip2 T C 19: 21,779,243 (GRCm39) V351A probably damaging Het
Chfr T C 5: 110,301,035 (GRCm39) I312T probably damaging Het
Csmd1 A G 8: 16,131,739 (GRCm39) V1662A possibly damaging Het
Dgkd T A 1: 87,853,990 (GRCm39) L611Q probably damaging Het
Dicer1 A G 12: 104,666,673 (GRCm39) V1376A probably benign Het
Elp2 C T 18: 24,750,470 (GRCm39) T269M probably benign Het
Ephb6 T A 6: 41,591,179 (GRCm39) V112E probably damaging Het
Fbxo11 A T 17: 88,320,086 (GRCm39) Y209N probably benign Het
Frem1 C T 4: 82,920,045 (GRCm39) R437Q probably damaging Het
Gabbr1 A G 17: 37,358,399 (GRCm39) T46A probably damaging Het
Gbp9 T A 5: 105,242,334 (GRCm39) Q135L probably damaging Het
Gstp1 A T 19: 4,087,375 (GRCm39) M20K probably damaging Het
Heatr6 A G 11: 83,649,193 (GRCm39) R183G probably damaging Het
Ints11 A G 4: 155,972,185 (GRCm39) K397E probably damaging Het
Intu A G 3: 40,647,211 (GRCm39) T695A probably benign Het
Kif21b T C 1: 136,099,023 (GRCm39) V1437A probably damaging Het
Klhl24 T A 16: 19,925,842 (GRCm39) Y123* probably null Het
Lipm C T 19: 34,093,847 (GRCm39) L255F probably benign Het
Max A T 12: 76,985,355 (GRCm39) M121K probably benign Het
Mga A T 2: 119,772,170 (GRCm39) I1677L possibly damaging Het
Msantd1 C A 5: 35,078,905 (GRCm39) L147M probably damaging Het
Msantd1 T A 5: 35,078,906 (GRCm39) L147Q probably benign Het
Mylk4 T C 13: 32,896,772 (GRCm39) D363G possibly damaging Het
Naaa T C 5: 92,420,300 (GRCm39) probably null Het
Ninl A G 2: 150,806,079 (GRCm39) Y381H probably damaging Het
Nwd2 A G 5: 63,964,589 (GRCm39) N1391S probably damaging Het
Or6k8-ps1 G A 1: 173,979,789 (GRCm39) A236T probably damaging Het
Or8g18 C T 9: 39,149,255 (GRCm39) C155Y probably benign Het
Phip A G 9: 82,753,551 (GRCm39) V1731A probably benign Het
Plxnb1 T A 9: 108,931,939 (GRCm39) C488* probably null Het
Rgs7 T C 1: 174,907,120 (GRCm39) I374V probably benign Het
Rin2 A T 2: 145,718,376 (GRCm39) M574L probably benign Het
Rps18 A T 17: 34,171,392 (GRCm39) D92E probably benign Het
Scrn1 T A 6: 54,497,791 (GRCm39) I267L probably benign Het
Stard9 T C 2: 120,532,023 (GRCm39) V67A probably benign Het
Syne1 T G 10: 5,317,616 (GRCm39) M493L probably benign Het
Tbc1d2 G A 4: 46,614,207 (GRCm39) R625C probably damaging Het
Tcerg1l A G 7: 137,995,909 (GRCm39) S200P probably damaging Het
Tet3 A T 6: 83,346,039 (GRCm39) V1331E probably benign Het
Ticrr A T 7: 79,345,297 (GRCm39) I1721F possibly damaging Het
Tjp2 T C 19: 24,090,311 (GRCm39) D577G probably damaging Het
Tmem38b A G 4: 53,840,713 (GRCm39) M43V probably benign Het
Trabd T A 15: 88,970,069 (GRCm39) probably null Het
Trpv5 C A 6: 41,651,216 (GRCm39) D277Y probably damaging Het
Tubb1 A C 2: 174,298,416 (GRCm39) D67A probably damaging Het
Ubxn7 A G 16: 32,200,054 (GRCm39) probably null Het
Ugp2 G A 11: 21,283,774 (GRCm39) P98S probably benign Het
Vmn2r66 G T 7: 84,656,955 (GRCm39) P150Q probably benign Het
Zbtb11 A T 16: 55,794,588 (GRCm39) H55L 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
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
R8534:G6pc2 UTSW 2 69,050,469 (GRCm39) missense probably benign 0.00
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'- GCTCTGACCTCACTGACCACAATG -3'
(R):5'- TGTAAGCATCCAGCCCCTGTCAAC -3'

Sequencing Primer
(F):5'- TGACCACAATGCAACTTTATCG -3'
(R):5'- tgttaccgtattgtcagttttgtc -3'
Posted On 2014-05-09