Incidental Mutation 'R8749:G6pc2'
ID 663686
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 068592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8749 (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 69057140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 262 (N262S)
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: N262S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: N262S

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
Meta Mutation Damage Score 0.6788 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 C T 13: 4,320,155 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,664,725 (GRCm39) M888K unknown Het
Arhgap23 T A 11: 97,391,641 (GRCm39) V223E probably damaging Het
Atm C T 9: 53,410,497 (GRCm39) W1028* probably null Het
Atp7b A G 8: 22,518,334 (GRCm39) V168A probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Caskin1 C T 17: 24,723,774 (GRCm39) A854V probably benign Het
Cdcp1 T C 9: 123,019,027 (GRCm39) N84S probably benign Het
Cdh20 T A 1: 110,027,009 (GRCm39) I475N probably damaging Het
Ciz1 A T 2: 32,255,848 (GRCm39) Y107F probably benign Het
Creb3l4 T C 3: 90,145,199 (GRCm39) N318D probably benign Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dmxl1 A T 18: 50,088,937 (GRCm39) K2805N probably damaging Het
Dusp15 T A 2: 152,788,209 (GRCm39) I63F probably damaging Het
Dync2h1 T C 9: 7,035,063 (GRCm39) Q3462R probably benign Het
Evpl A G 11: 116,120,232 (GRCm39) C569R probably benign Het
Fmnl3 A T 15: 99,219,322 (GRCm39) M766K possibly damaging Het
Galk1 A T 11: 115,899,762 (GRCm39) L325Q probably damaging Het
H3c3 T C 13: 23,929,108 (GRCm39) I125V probably benign Het
Hr G A 14: 70,795,510 (GRCm39) G352R probably damaging Het
Il12b A T 11: 44,294,864 (GRCm39) M1L not run Het
Lpar6 A T 14: 73,476,950 (GRCm39) M304L probably benign Het
Mpeg1 G A 19: 12,439,291 (GRCm39) A250T probably benign Het
Mtcl3 T C 10: 29,072,721 (GRCm39) I671T possibly damaging Het
Neb T C 2: 52,180,863 (GRCm39) K1221R probably benign Het
Ogfrl1 T A 1: 23,409,399 (GRCm39) I276F probably damaging Het
Or4f62 A G 2: 111,986,869 (GRCm39) D191G possibly damaging Het
Or4k37 T C 2: 111,158,817 (GRCm39) C18R possibly damaging Het
Or4x12-ps1 T C 2: 89,916,631 (GRCm39) Y58C probably damaging Het
Oxr1 A G 15: 41,574,260 (GRCm39) N2S probably benign Het
P3h3 G A 6: 124,822,940 (GRCm39) R505C probably damaging Het
Pcdhb16 A T 18: 37,612,392 (GRCm39) I451F possibly damaging Het
Pet117 C A 2: 144,215,122 (GRCm39) D36E probably benign Het
Prf1 T C 10: 61,138,948 (GRCm39) V302A probably damaging Het
Prkdc G A 16: 15,601,029 (GRCm39) A2897T possibly damaging Het
Prkra A G 2: 76,460,879 (GRCm39) L273P probably damaging Het
Prr30 T A 14: 101,436,365 (GRCm39) T66S probably benign Het
Slc29a4 A G 5: 142,700,819 (GRCm39) Y188C probably damaging Het
Spink5 A T 18: 44,122,425 (GRCm39) K297* probably null Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tmem100 G A 11: 89,926,574 (GRCm39) A134T probably damaging Het
Tmem132c A G 5: 127,437,003 (GRCm39) D164G possibly damaging Het
Tnfsf18 A G 1: 161,331,047 (GRCm39) T66A possibly damaging Het
Ubr4 C T 4: 139,129,935 (GRCm39) T685I probably damaging Het
Uck1 T C 2: 32,146,524 (GRCm39) Y185C Het
Umod T A 7: 119,070,639 (GRCm39) I418F probably benign Het
Upp1 A T 11: 9,079,561 (GRCm39) S41C probably damaging Het
Vmn1r168 A T 7: 23,240,428 (GRCm39) Y95F probably benign Het
Vmn1r180 G T 7: 23,652,415 (GRCm39) D193Y probably damaging Het
Vmn2r11 A G 5: 109,195,319 (GRCm39) V669A probably damaging Het
Vmn2r55 T A 7: 12,385,796 (GRCm39) Y728F probably damaging Het
Vmn2r78 A G 7: 86,603,513 (GRCm39) T564A possibly damaging Het
Vps13d T A 4: 144,865,183 (GRCm39) N2057I Het
Wdfy3 C T 5: 102,030,446 (GRCm39) R2354Q probably damaging Het
Wdr77 T A 3: 105,866,975 (GRCm39) C26S probably damaging Het
Yif1b C T 7: 28,946,690 (GRCm39) A267V probably benign Het
Zfp316 A G 5: 143,248,565 (GRCm39) V227A unknown Het
Zfp600 T A 4: 146,133,151 (GRCm39) H606Q unknown Het
Zfp804a T C 2: 82,087,919 (GRCm39) W583R probably benign Het
Zfp961 T C 8: 72,719,686 (GRCm39) W39R probably damaging Het
Zfp990 T A 4: 145,264,156 (GRCm39) C385S probably 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
R8534:G6pc2 UTSW 2 69,050,469 (GRCm39) missense probably benign 0.00
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'- GTGTACCTGAAGACCAACGTC -3'
(R):5'- TTAGAGCCACCACCATCAGG -3'

Sequencing Primer
(F):5'- GACCAACGTCTTCCTCTTCCTG -3'
(R):5'- TGGACGCACTTTTACAGAAAGAC -3'
Posted On 2021-03-08