Incidental Mutation 'IGL02319:Rgs16'
ID288166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs16
Ensembl Gene ENSMUSG00000026475
Gene Nameregulator of G-protein signaling 16
SynonymsRgsr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02319
Quality Score
Status
Chromosome1
Chromosomal Location153740349-153745468 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 153742106 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 121 (I121F)
Ref Sequence ENSEMBL: ENSMUSP00000027748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027748]
PDB Structure
Molecular architecture of Galphao and the structural basis for RGS16-mediated deactivation [X-RAY DIFFRACTION]
Molecular architecture of Galphao and the structural basis for RGS16-mediated deactivation [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027748
AA Change: I121F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027748
Gene: ENSMUSG00000026475
AA Change: I121F

DomainStartEndE-ValueType
RGS 64 180 3.69e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191474
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 belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fatty acid oxidation and circulating ketone levels when fed a high-fat diet. Mice homozygous for a different knock-out allele exhibit impaired Th1 and Th2 chemotaxis and increased susceptibility toparasitic infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,948,750 Y537C probably damaging Het
Ambra1 A G 2: 91,886,920 H854R probably damaging Het
Atf7ip A G 6: 136,593,118 N981S probably benign Het
Atp6v1d A G 12: 78,861,456 S2P probably damaging Het
Cd59a A T 2: 104,114,028 I74F possibly damaging Het
Chek2 T C 5: 110,867,011 Y449H possibly damaging Het
Ctif C T 18: 75,521,873 probably benign Het
Dnaaf3 T C 7: 4,523,947 E403G probably damaging Het
Dock1 T G 7: 134,772,449 V608G possibly damaging Het
Fcf1 T C 12: 84,971,208 probably null Het
Fgf17 T G 14: 70,636,743 Q202P possibly damaging Het
Hnrnpm A T 17: 33,649,950 L501Q probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klra6 A T 6: 130,025,214 S2R probably damaging Het
Krtap19-9b T A 16: 88,932,114 Y33F unknown Het
Lpcat4 G A 2: 112,243,884 V264M probably damaging Het
Lyzl6 T C 11: 103,635,036 Y86C probably damaging Het
Myo18b T C 5: 112,791,139 K1669E probably damaging Het
Nbea A G 3: 55,985,738 V1558A probably damaging Het
Olfr1458 A G 19: 13,102,662 I214T probably benign Het
Olfr606 G A 7: 103,452,267 C310Y probably benign Het
Olfr643 A G 7: 104,058,933 I223T probably damaging Het
Olfr911-ps1 T A 9: 38,523,870 I46N probably damaging Het
Pex11b T C 3: 96,643,569 probably benign Het
Rbm5 A T 9: 107,743,865 L689* probably null Het
Rd3 G T 1: 191,983,491 G76C probably null Het
Tmem30a A T 9: 79,774,203 M264K probably damaging Het
Traf2 T C 2: 25,536,683 E127G probably damaging Het
Trmt11 A T 10: 30,560,873 D290E probably damaging Het
Wdr35 C A 12: 9,027,480 probably benign Het
Wnk2 A G 13: 49,061,438 S1211P possibly damaging Het
Other mutations in Rgs16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Rgs16 APN 1 153742058 missense probably damaging 0.99
LCD18:Rgs16 UTSW 1 153744230 utr 3 prime probably benign
R0295:Rgs16 UTSW 1 153743737 missense probably damaging 1.00
R1355:Rgs16 UTSW 1 153743668 missense probably damaging 0.99
R4639:Rgs16 UTSW 1 153742035 missense probably damaging 1.00
R5398:Rgs16 UTSW 1 153740500 missense probably benign 0.01
R6566:Rgs16 UTSW 1 153743800 missense unknown
R6629:Rgs16 UTSW 1 153743674 missense probably damaging 0.98
R7208:Rgs16 UTSW 1 153741670 missense probably damaging 1.00
Posted On2015-04-16