Incidental Mutation 'IGL02319:Rgs16'
ID 288166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs16
Ensembl Gene ENSMUSG00000026475
Gene Name regulator of G-protein signaling 16
Synonyms Rgsr
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL02319
Quality Score
Status
Chromosome 1
Chromosomal Location 153616099-153621212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153617852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 121 (I121F)
Ref Sequence ENSEMBL: ENSMUSP00000027748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027748]
AlphaFold P97428
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: 106,784,611 (GRCm39) Y537C probably damaging Het
Ambra1 A G 2: 91,717,265 (GRCm39) H854R probably damaging Het
Atf7ip A G 6: 136,570,116 (GRCm39) N981S probably benign Het
Atp6v1d A G 12: 78,908,230 (GRCm39) S2P probably damaging Het
Cd59a A T 2: 103,944,373 (GRCm39) I74F possibly damaging Het
Chek2 T C 5: 111,014,877 (GRCm39) Y449H possibly damaging Het
Ctif C T 18: 75,654,944 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,526,946 (GRCm39) E403G probably damaging Het
Dock1 T G 7: 134,374,178 (GRCm39) V608G possibly damaging Het
Fcf1 T C 12: 85,017,982 (GRCm39) probably null Het
Fgf17 T G 14: 70,874,183 (GRCm39) Q202P possibly damaging Het
Hnrnpm A T 17: 33,868,924 (GRCm39) L501Q probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Klra6 A T 6: 130,002,177 (GRCm39) S2R probably damaging Het
Krtap19-9b T A 16: 88,729,002 (GRCm39) Y33F unknown Het
Lpcat4 G A 2: 112,074,229 (GRCm39) V264M probably damaging Het
Lyzl6 T C 11: 103,525,862 (GRCm39) Y86C probably damaging Het
Myo18b T C 5: 112,939,005 (GRCm39) K1669E probably damaging Het
Nbea A G 3: 55,893,159 (GRCm39) V1558A probably damaging Het
Or51a42 A G 7: 103,708,140 (GRCm39) I223T probably damaging Het
Or51l14 G A 7: 103,101,474 (GRCm39) C310Y probably benign Het
Or5b105 A G 19: 13,080,026 (GRCm39) I214T probably benign Het
Or8b47 T A 9: 38,435,166 (GRCm39) I46N probably damaging Het
Pex11b T C 3: 96,550,885 (GRCm39) probably benign Het
Rbm5 A T 9: 107,621,064 (GRCm39) L689* probably null Het
Rd3 G T 1: 191,715,452 (GRCm39) G76C probably null Het
Tmem30a A T 9: 79,681,485 (GRCm39) M264K probably damaging Het
Traf2 T C 2: 25,426,695 (GRCm39) E127G probably damaging Het
Trmt11 A T 10: 30,436,869 (GRCm39) D290E probably damaging Het
Wdr35 C A 12: 9,077,480 (GRCm39) probably benign Het
Wnk2 A G 13: 49,214,914 (GRCm39) S1211P possibly damaging Het
Other mutations in Rgs16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Rgs16 APN 1 153,617,804 (GRCm39) missense probably damaging 0.99
LCD18:Rgs16 UTSW 1 153,619,976 (GRCm39) utr 3 prime probably benign
R0295:Rgs16 UTSW 1 153,619,483 (GRCm39) missense probably damaging 1.00
R1355:Rgs16 UTSW 1 153,619,414 (GRCm39) missense probably damaging 0.99
R4639:Rgs16 UTSW 1 153,617,781 (GRCm39) missense probably damaging 1.00
R5398:Rgs16 UTSW 1 153,616,246 (GRCm39) missense probably benign 0.01
R6566:Rgs16 UTSW 1 153,619,546 (GRCm39) missense unknown
R6629:Rgs16 UTSW 1 153,619,420 (GRCm39) missense probably damaging 0.98
R7208:Rgs16 UTSW 1 153,617,416 (GRCm39) missense probably damaging 1.00
R8195:Rgs16 UTSW 1 153,616,689 (GRCm39) missense probably benign 0.00
R9125:Rgs16 UTSW 1 153,617,874 (GRCm39) missense probably null 1.00
R9140:Rgs16 UTSW 1 153,619,381 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16