Incidental Mutation 'IGL01023:Gnat3'
ID53596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnat3
Ensembl Gene ENSMUSG00000028777
Gene Nameguanine nucleotide binding protein, alpha transducing 3
SynonymsGtn, Ggust, alpha-gustducin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01023
Quality Score
Status
Chromosome5
Chromosomal Location17962549-18019834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18003828 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 177 (S177P)
Ref Sequence ENSEMBL: ENSMUSP00000030561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030561]
Predicted Effect probably damaging
Transcript: ENSMUST00000030561
AA Change: S177P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030561
Gene: ENSMUSG00000028777
AA Change: S177P

DomainStartEndE-ValueType
G_alpha 13 353 3.06e-221 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal taste sensitivity. Mice show reduced behavioral and electrophysiological responses to bitter, sweet, and unami compounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,629,729 L1472P probably damaging Het
BC005561 T A 5: 104,520,500 W963R probably damaging Het
Col18a1 C T 10: 77,070,975 V1151M probably damaging Het
Crmp1 A T 5: 37,276,313 D286V probably damaging Het
Ddx60 A T 8: 61,942,514 I162F probably damaging Het
Fam24b A T 7: 131,326,174 C95* probably null Het
Fsd1 A G 17: 55,988,245 Y78C probably damaging Het
Galc C T 12: 98,231,422 V343I probably benign Het
Glis2 C T 16: 4,611,650 R214C probably damaging Het
Gm14406 A T 2: 177,569,239 C416S probably damaging Het
Gm5724 A G 6: 141,754,429 S126P probably benign Het
Higd1a C T 9: 121,849,683 G80D possibly damaging Het
Hp1bp3 T C 4: 138,240,629 V421A possibly damaging Het
Ipo11 A T 13: 106,897,259 F238L probably benign Het
Med26 A T 8: 72,495,874 F460L possibly damaging Het
Olfr1111 T A 2: 87,149,825 T279S possibly damaging Het
Osbp2 T C 11: 3,863,387 I161V probably benign Het
Prr5 T C 15: 84,699,655 V152A possibly damaging Het
Prx T A 7: 27,519,419 I1115K probably benign Het
Ptpn22 A G 3: 103,903,374 I708M probably benign Het
Robo3 T C 9: 37,429,551 T120A probably damaging Het
Setd2 C A 9: 110,547,513 S132* probably null Het
Slc9a1 A G 4: 133,422,143 E760G probably benign Het
Stx16 A T 2: 174,092,409 H135L probably damaging Het
Tas2r131 A T 6: 132,957,801 L15Q probably damaging Het
Tmcc1 A G 6: 116,043,027 L128P probably damaging Het
Tmem269 C A 4: 119,209,314 M182I probably benign Het
Tnfaip8l2 A G 3: 95,140,415 S46P probably damaging Het
Trim30c A G 7: 104,382,972 probably benign Het
Unc13a C T 8: 71,661,825 E184K probably benign Het
Wfs1 A T 5: 36,967,917 C467* probably null Het
Zfp78 G A 7: 6,375,588 G77D possibly damaging Het
Other mutations in Gnat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Gnat3 APN 5 18003751 splice site probably benign
IGL01997:Gnat3 APN 5 17999723 nonsense probably null
PIT4377001:Gnat3 UTSW 5 18015559 missense
R0556:Gnat3 UTSW 5 18019598 missense probably damaging 1.00
R1624:Gnat3 UTSW 5 18003843 missense possibly damaging 0.66
R1934:Gnat3 UTSW 5 18019510 missense possibly damaging 0.74
R2319:Gnat3 UTSW 5 18019626 missense probably benign 0.17
R3928:Gnat3 UTSW 5 18003894 splice site probably benign
R4169:Gnat3 UTSW 5 18003864 missense probably damaging 1.00
R4420:Gnat3 UTSW 5 17999801 missense probably damaging 1.00
R4632:Gnat3 UTSW 5 18015366 splice site probably null
R4651:Gnat3 UTSW 5 18015570 missense probably damaging 1.00
R4652:Gnat3 UTSW 5 18015570 missense probably damaging 1.00
R5471:Gnat3 UTSW 5 17991324 missense probably damaging 1.00
R7460:Gnat3 UTSW 5 17999658 missense
R7627:Gnat3 UTSW 5 17999748 missense
R7637:Gnat3 UTSW 5 18003772 missense
X0064:Gnat3 UTSW 5 18003840 missense possibly damaging 0.74
Z1088:Gnat3 UTSW 5 18015323 missense probably damaging 1.00
Z1177:Gnat3 UTSW 5 18015313 nonsense probably null
Posted On2013-06-28