Incidental Mutation 'R5971:Gcg'
ID 470840
Institutional Source Beutler Lab
Gene Symbol Gcg
Ensembl Gene ENSMUSG00000000394
Gene Name glucagon
Synonyms Glu, GLP-1, glucagon-like peptide I, PPG
MMRRC Submission 044154-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R5971 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 62304874-62313994 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62306148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 150 (S150P)
Ref Sequence ENSEMBL: ENSMUSP00000099794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102733] [ENSMUST00000136686]
AlphaFold P55095
Predicted Effect probably damaging
Transcript: ENSMUST00000102733
AA Change: S150P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099794
Gene: ENSMUSG00000000394
AA Change: S150P

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 probably damaging
Transcript: ENSMUST00000136686
AA Change: S150P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115892
Gene: ENSMUSG00000000394
AA Change: S150P

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: ENSMUST00000136879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155624
Meta Mutation Damage Score 0.1246 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 87% (27/31)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
5031439G07Rik G T 15: 84,871,863 (GRCm39) A4D possibly damaging Het
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Abcc9 A G 6: 142,585,301 (GRCm39) F801S probably damaging Het
Abhd14a A T 9: 106,321,065 (GRCm39) S97T possibly damaging Het
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Anxa10 C A 8: 62,530,960 (GRCm39) M83I probably benign Het
Ctnna1 T C 18: 35,287,567 (GRCm39) V92A probably benign Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Msl1 G T 11: 98,689,519 (GRCm39) G9C probably benign Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Slc13a1 T C 6: 24,133,656 (GRCm39) T199A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Other mutations in Gcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Gcg APN 2 62,310,827 (GRCm39) missense possibly damaging 0.86
IGL02582:Gcg APN 2 62,308,922 (GRCm39) nonsense probably null
R0466:Gcg UTSW 2 62,307,282 (GRCm39) missense probably damaging 0.99
R3620:Gcg UTSW 2 62,307,279 (GRCm39) missense probably damaging 0.96
R3621:Gcg UTSW 2 62,307,279 (GRCm39) missense probably damaging 0.96
R4744:Gcg UTSW 2 62,308,975 (GRCm39) missense probably damaging 1.00
R4859:Gcg UTSW 2 62,307,189 (GRCm39) missense probably damaging 0.96
R5807:Gcg UTSW 2 62,306,069 (GRCm39) missense possibly damaging 0.54
R6138:Gcg UTSW 2 62,306,148 (GRCm39) missense probably damaging 1.00
R7191:Gcg UTSW 2 62,307,183 (GRCm39) missense probably damaging 1.00
R7522:Gcg UTSW 2 62,306,103 (GRCm39) missense probably benign 0.32
R8188:Gcg UTSW 2 62,309,004 (GRCm39) missense probably damaging 0.96
R8746:Gcg UTSW 2 62,305,325 (GRCm39) missense probably damaging 1.00
R9261:Gcg UTSW 2 62,306,408 (GRCm39) intron probably benign
R9273:Gcg UTSW 2 62,306,133 (GRCm39) missense probably null 0.44
U15987:Gcg UTSW 2 62,306,148 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATATAGGAACGGCTAATGGC -3'
(R):5'- CGAGCTTCGTTTCAGGGTAGAG -3'

Sequencing Primer
(F):5'- CGGCTAATGGCTGTATAACCTAC -3'
(R):5'- GGGTTTTAGTGAAATGCCCCACC -3'
Posted On 2017-03-31