Incidental Mutation 'IGL02406:Gcgr'
ID 292091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcgr
Ensembl Gene ENSMUSG00000025127
Gene Name glucagon receptor
Synonyms GR
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02406
Quality Score
Status
Chromosome 11
Chromosomal Location 120421525-120429812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 120428010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 292 (N292K)
Ref Sequence ENSEMBL: ENSMUSP00000026119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026119]
AlphaFold Q61606
Predicted Effect probably damaging
Transcript: ENSMUST00000026119
AA Change: N292K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026119
Gene: ENSMUSG00000025127
AA Change: N292K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
HormR 55 131 4.94e-27 SMART
Pfam:7tm_2 139 397 6.4e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147877
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]
PHENOTYPE: Animals homozygous for a targeted mutation in this gene exhibit reduced blood glucose levels and increased plasma glucagon and amino acid levels associated with alpha-cell hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,139,825 (GRCm39) A1496S probably damaging Het
Abra A T 15: 41,732,583 (GRCm39) V161E probably damaging Het
Adcy4 G A 14: 56,007,504 (GRCm39) T942I possibly damaging Het
Atrip A G 9: 108,894,487 (GRCm39) V480A probably damaging Het
Azin1 A T 15: 38,491,809 (GRCm39) D382E probably benign Het
BC034090 G T 1: 155,100,899 (GRCm39) A455E probably benign Het
Clstn1 A G 4: 149,711,816 (GRCm39) Y121C probably damaging Het
Cpq T A 15: 33,302,654 (GRCm39) N268K probably damaging Het
Cpsf7 A G 19: 10,509,352 (GRCm39) S88G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2j11 G A 4: 96,236,776 (GRCm39) A10V possibly damaging Het
Dock4 T C 12: 40,827,206 (GRCm39) V983A probably benign Het
Dspp G T 5: 104,325,232 (GRCm39) E532* probably null Het
Ercc4 G T 16: 12,941,400 (GRCm39) D243Y probably damaging Het
Fars2 C A 13: 36,594,145 (GRCm39) D383E probably benign Het
Fip1l1 A G 5: 74,725,205 (GRCm39) T280A probably benign Het
Gtpbp4 T A 13: 9,041,786 (GRCm39) K85M possibly damaging Het
Jhy A G 9: 40,822,285 (GRCm39) Y618H probably damaging Het
Mbd4 A T 6: 115,825,986 (GRCm39) I314N possibly damaging Het
Mbtd1 C T 11: 93,799,684 (GRCm39) T70M probably damaging Het
Mki67 T C 7: 135,300,522 (GRCm39) H1504R probably benign Het
Mks1 T C 11: 87,753,611 (GRCm39) V515A probably benign Het
Msantd2 G T 9: 37,434,755 (GRCm39) V332L probably damaging Het
Myrip A T 9: 120,296,598 (GRCm39) T836S probably benign Het
Nbea T C 3: 55,993,687 (GRCm39) I238V probably benign Het
Plekhh1 T C 12: 79,115,783 (GRCm39) probably benign Het
Prkdc A G 16: 15,488,399 (GRCm39) N507S probably benign Het
Prss12 G A 3: 123,299,123 (GRCm39) V632I possibly damaging Het
Puf60 A G 15: 75,946,458 (GRCm39) S121P probably damaging Het
Raet1e G A 10: 22,056,535 (GRCm39) C37Y probably damaging Het
Ralgps2 G T 1: 156,655,838 (GRCm39) A362E possibly damaging Het
Scn1a A G 2: 66,156,380 (GRCm39) S510P possibly damaging Het
Skap2 A C 6: 51,851,453 (GRCm39) probably null Het
Slc4a10 G A 2: 62,021,113 (GRCm39) V54M probably benign Het
Spata17 A G 1: 186,849,458 (GRCm39) probably null Het
Stoml3 T A 3: 53,410,671 (GRCm39) N128K probably damaging Het
Tatdn2 T A 6: 113,681,174 (GRCm39) S402R probably benign Het
Tmprss11f A G 5: 86,681,525 (GRCm39) W243R probably damaging Het
Vmn2r32 A G 7: 7,479,709 (GRCm39) Y155H probably benign Het
Vmn2r86 T A 10: 130,284,508 (GRCm39) T528S possibly damaging Het
Zfhx3 C T 8: 109,682,374 (GRCm39) A3271V unknown Het
Zkscan3 T C 13: 21,572,348 (GRCm39) N428S possibly damaging Het
Zxdc A G 6: 90,375,818 (GRCm39) S765G probably benign Het
Other mutations in Gcgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02286:Gcgr APN 11 120,428,757 (GRCm39) missense probably damaging 1.00
IGL02756:Gcgr APN 11 120,427,811 (GRCm39) missense probably benign 0.03
IGL02942:Gcgr APN 11 120,427,643 (GRCm39) splice site probably null
PIT4651001:Gcgr UTSW 11 120,428,968 (GRCm39) missense probably damaging 1.00
R0519:Gcgr UTSW 11 120,426,982 (GRCm39) missense probably damaging 1.00
R0549:Gcgr UTSW 11 120,427,387 (GRCm39) missense probably benign 0.28
R1400:Gcgr UTSW 11 120,425,812 (GRCm39) missense probably benign 0.00
R4272:Gcgr UTSW 11 120,429,250 (GRCm39) unclassified probably benign
R5155:Gcgr UTSW 11 120,427,872 (GRCm39) missense probably benign 0.30
R6042:Gcgr UTSW 11 120,425,584 (GRCm39) start codon destroyed probably null 0.02
R6093:Gcgr UTSW 11 120,428,947 (GRCm39) missense probably damaging 1.00
R6867:Gcgr UTSW 11 120,427,295 (GRCm39) missense possibly damaging 0.63
R7224:Gcgr UTSW 11 120,425,538 (GRCm39) start gained probably benign
R8232:Gcgr UTSW 11 120,427,328 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16