Incidental Mutation 'IGL02504:G6pc2'
ID 296214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pc2
Ensembl Gene ENSMUSG00000005232
Gene Name glucose-6-phosphatase, catalytic, 2
Synonyms IGRP, islet specific glucose-6-phosphatase, G6pc-rs
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02504
Quality Score
Status
Chromosome 2
Chromosomal Location 69041417-69058185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69056939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 195 (H195R)
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: H195R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: H195R

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,411,232 (GRCm39) N142I probably benign Het
Asf1b A G 8: 84,682,458 (GRCm39) M1V probably null Het
Astn1 T C 1: 158,329,978 (GRCm39) C278R probably damaging Het
Ccdc162 A T 10: 41,428,384 (GRCm39) L692Q probably damaging Het
Cd207 T A 6: 83,654,788 (GRCm39) probably benign Het
Chd5 T A 4: 152,447,779 (GRCm39) N548K probably damaging Het
Col7a1 G A 9: 108,809,743 (GRCm39) G2659D unknown Het
Cpa6 A T 1: 10,559,144 (GRCm39) Y75N probably benign Het
Cspg4 G T 9: 56,793,056 (GRCm39) V264L probably benign Het
Cyp3a25 T A 5: 145,930,141 (GRCm39) I155L probably benign Het
Dock6 A G 9: 21,757,951 (GRCm39) I51T probably benign Het
Dse G T 10: 34,028,796 (GRCm39) Q765K probably benign Het
Fam219b A T 9: 57,445,351 (GRCm39) M87L probably benign Het
Fat3 G A 9: 15,871,094 (GRCm39) R3766C probably damaging Het
Fcnb A C 2: 27,966,606 (GRCm39) M309R probably damaging Het
Fnbp4 C A 2: 90,598,887 (GRCm39) N670K probably damaging Het
Fsip2 T A 2: 82,809,199 (GRCm39) N1839K possibly damaging Het
Gm14179 A T 11: 99,634,003 (GRCm39) Het
Grm5 A G 7: 87,779,980 (GRCm39) N1172S probably benign Het
Hsd17b14 A G 7: 45,205,799 (GRCm39) T64A possibly damaging Het
Hspb7 G T 4: 141,149,131 (GRCm39) E12D probably benign Het
Kdm2a T C 19: 4,406,799 (GRCm39) N155D possibly damaging Het
Klhl24 A T 16: 19,934,693 (GRCm39) R389* probably null Het
Kmt2b A G 7: 30,285,968 (GRCm39) probably benign Het
Krt4 T A 15: 101,827,727 (GRCm39) I469F unknown Het
Mto1 A T 9: 78,368,209 (GRCm39) D451V probably damaging Het
Muc5b A T 7: 141,400,177 (GRCm39) D477V unknown Het
Pcsk5 A G 19: 17,455,236 (GRCm39) probably null Het
Ppil4 T A 10: 7,696,748 (GRCm39) Y420* probably null Het
Ppp2r5d A T 17: 47,011,019 (GRCm39) D27E probably benign Het
Prkd2 T C 7: 16,591,757 (GRCm39) L596P probably damaging Het
Prr30 T C 14: 101,436,056 (GRCm39) I169V probably benign Het
Rtl9 A T X: 141,885,287 (GRCm39) T900S probably benign Het
Sash1 A G 10: 8,605,676 (GRCm39) S905P probably benign Het
Scn2a G A 2: 65,514,228 (GRCm39) G304D probably benign Het
Scp2d1 T C 2: 144,665,877 (GRCm39) L72P probably damaging Het
Septin2 T A 1: 93,428,203 (GRCm39) H166Q probably benign Het
Sgcb A G 5: 73,801,718 (GRCm39) I49T probably damaging Het
Smyd4 T A 11: 75,281,507 (GRCm39) W327R probably damaging Het
Sptbn1 C T 11: 30,092,293 (GRCm39) E491K probably damaging Het
Tcaf1 A T 6: 42,656,213 (GRCm39) H254Q probably benign Het
Tll1 A C 8: 64,523,271 (GRCm39) D480E possibly damaging Het
Tlr3 G A 8: 45,850,944 (GRCm39) T127M probably damaging Het
Trio A T 15: 27,847,476 (GRCm39) C929* probably null Het
Ttn C T 2: 76,628,494 (GRCm39) W12809* probably null Het
Ugt2b35 T A 5: 87,149,400 (GRCm39) M217K possibly damaging Het
Unc13b T C 4: 43,263,031 (GRCm39) V4261A probably damaging Het
Uqcrc2 T C 7: 120,242,254 (GRCm39) I82T probably benign Het
Usp21 A G 1: 171,112,596 (GRCm39) I266T probably benign Het
Veph1 A T 3: 66,079,551 (GRCm39) H321Q probably damaging Het
Vmn1r29 A C 6: 58,284,655 (GRCm39) Y125S probably benign 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
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
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
Posted On 2015-04-16