Incidental Mutation 'IGL01483:Gcg'
ID88687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcg
Ensembl Gene ENSMUSG00000000394
Gene Nameglucagon
SynonymsPPG, glucagon-like peptide I, GLP-1, Glu
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL01483
Quality Score
Status
Chromosome2
Chromosomal Location62474530-62483650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62480483 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 25 (D25G)
Ref Sequence ENSEMBL: ENSMUSP00000115892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102733] [ENSMUST00000136686]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102733
AA Change: D25G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099794
Gene: ENSMUSG00000000394
AA Change: D25G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
GLUCA 53 79 7.5e-15 SMART
GLUCA 98 124 4.06e-11 SMART
GLUCA 146 172 1.97e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000136686
AA Change: D25G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115892
Gene: ENSMUSG00000000394
AA Change: D25G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
GLUCA 53 79 7.5e-15 SMART
GLUCA 98 124 4.06e-11 SMART
GLUCA 146 172 1.97e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155624
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes glucagon, a pancreatic hormone that counteracts the action of insulin in the bloodstream. The encoded protein is processed to generate glucagon and two other glucagon-like peptides, GLP1 and GLP2. Glucagon stimulates gluconeogenesis, glycogenolysis and lipolysis. GLP1 induces secretion of insulin, suppresses glucagon secretion and inhibits feeding. GLP2 induces intestinal absorption of glucose by stimulating the growth of intestinal cells and preventing apoptosis. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit islet alpha cell hyperplasia and increased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Gcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Gcg APN 2 62478578 nonsense probably null
R0466:Gcg UTSW 2 62476938 missense probably damaging 0.99
R3620:Gcg UTSW 2 62476935 missense probably damaging 0.96
R3621:Gcg UTSW 2 62476935 missense probably damaging 0.96
R4744:Gcg UTSW 2 62478631 missense probably damaging 1.00
R4859:Gcg UTSW 2 62476845 missense probably damaging 0.96
R5807:Gcg UTSW 2 62475725 missense possibly damaging 0.54
R5971:Gcg UTSW 2 62475804 missense probably damaging 1.00
R6138:Gcg UTSW 2 62475804 missense probably damaging 1.00
R7191:Gcg UTSW 2 62476839 missense probably damaging 1.00
R7522:Gcg UTSW 2 62475759 missense probably benign 0.32
R8188:Gcg UTSW 2 62478660 missense probably damaging 0.96
R8746:Gcg UTSW 2 62474981 missense probably damaging 1.00
U15987:Gcg UTSW 2 62475804 missense probably damaging 1.00
Posted On2013-11-18