Incidental Mutation 'R8797:G6pc2'
ID 671297
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 068638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8797 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 69041417-69058185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69050441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 22 (Y22C)
Ref Sequence ENSEMBL: ENSMUSP00000005364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005364] [ENSMUST00000112317]
AlphaFold Q9Z186
Predicted Effect probably benign
Transcript: ENSMUST00000005364
AA Change: Y22C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: Y22C

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: Y22C

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: Y22C

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: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 C A 7: 119,137,374 (GRCm39) P397T probably damaging Het
Adamts14 C T 10: 61,106,781 (GRCm39) R113K probably benign Het
Baiap2 G A 11: 119,897,201 (GRCm39) V519I probably benign Het
Ccna1 C T 3: 54,953,069 (GRCm39) A233T probably benign Het
Cdon T C 9: 35,389,931 (GRCm39) Y862H probably damaging Het
Crygc C T 1: 65,111,030 (GRCm39) A86T probably benign Het
Cyb5d2 T G 11: 72,669,662 (GRCm39) N232T probably benign Het
Dnah14 C A 1: 181,465,412 (GRCm39) H1193N probably benign Het
Dnah17 T G 11: 117,992,201 (GRCm39) E1170A probably benign Het
Dnah7b A G 1: 46,162,806 (GRCm39) Y384C probably damaging Het
Fat4 G A 3: 39,053,278 (GRCm39) V4091I probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Gpihbp1 A T 15: 75,469,828 (GRCm39) Q181L possibly damaging Het
H2bc4 C T 13: 23,868,552 (GRCm39) S113L probably damaging Het
Hhatl A T 9: 121,619,965 (GRCm39) probably benign Het
Iars1 C A 13: 49,841,738 (GRCm39) S75R probably benign Het
Igfn1 T A 1: 135,902,573 (GRCm39) I375F possibly damaging Het
Itih4 A G 14: 30,618,529 (GRCm39) I647V probably benign Het
Jmjd1c T A 10: 67,060,616 (GRCm39) C703S probably benign Het
L3mbtl2 C T 15: 81,569,615 (GRCm39) T619I possibly damaging Het
Lct T C 1: 128,231,684 (GRCm39) T722A possibly damaging Het
Meioc C T 11: 102,567,686 (GRCm39) Q827* probably null Het
Meis2 T C 2: 115,694,986 (GRCm39) S386G probably benign Het
Mroh8 T A 2: 157,071,876 (GRCm39) D543V probably damaging Het
Ms4a13 C T 19: 11,161,200 (GRCm39) R113H probably benign Het
Myrfl T C 10: 116,613,325 (GRCm39) Y826C probably benign Het
Nf1 T C 11: 79,366,711 (GRCm39) probably benign Het
Nrg3 A C 14: 38,093,243 (GRCm39) L542R probably benign Het
Or13j1 T C 4: 43,706,455 (GRCm39) T38A probably damaging Het
Or2y8 T A 11: 52,036,340 (GRCm39) T6S probably benign Het
Or6c65 T A 10: 129,603,674 (GRCm39) I103K probably damaging Het
Pcdh15 A G 10: 74,419,978 (GRCm39) N1212S probably damaging Het
Pcsk5 G A 19: 17,443,472 (GRCm39) T1229I probably benign Het
Pkd1l3 A T 8: 110,374,946 (GRCm39) H1483L probably benign Het
Polr3b T A 10: 84,532,879 (GRCm39) L840* probably null Het
Psd4 A T 2: 24,287,440 (GRCm39) R457S probably benign Het
Relch T C 1: 105,678,121 (GRCm39) S1149P possibly damaging Het
Rgs12 A G 5: 35,186,915 (GRCm39) S194G Het
Rps3 A G 7: 99,132,797 (GRCm39) probably null Het
Saxo4 T C 19: 10,455,602 (GRCm39) I216V probably benign Het
Sgcb G T 5: 73,793,036 (GRCm39) N255K probably benign Het
Sla2 A G 2: 156,717,799 (GRCm39) Y158H probably damaging Het
Sla2 G A 2: 156,717,823 (GRCm39) Q150* probably null Het
Slc12a2 T A 18: 58,012,455 (GRCm39) Y193N possibly damaging Het
Supt16 G T 14: 52,409,960 (GRCm39) T749K probably damaging Het
Uqcrc2 A G 7: 120,239,500 (GRCm39) E104G probably damaging Het
Vasp T C 7: 18,994,563 (GRCm39) N251S unknown Het
Vmn1r72 A G 7: 11,403,965 (GRCm39) M161T probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp981 T A 4: 146,619,906 (GRCm39) L20* probably null 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
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
X0040:G6pc2 UTSW 2 69,053,354 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TCACATGTCACGTAATGGCTCAG -3'
(R):5'- ATGCACCTGAAACGTGATCAC -3'

Sequencing Primer
(F):5'- ACGTAATGGCTCAGTGCATC -3'
(R):5'- CTGAAACGTGATCACTAAGCTAAG -3'
Posted On 2021-04-30