Incidental Mutation 'IGL00840:Rgs20'
ID13815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs20
Ensembl Gene ENSMUSG00000002459
Gene Nameregulator of G-protein signaling 20
SynonymsRgsz1, 2900073E09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL00840
Quality Score
Status
Chromosome1
Chromosomal Location4909576-5070285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5070015 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 55 (V55I)
Ref Sequence ENSEMBL: ENSMUSP00000113398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118000] [ENSMUST00000147158] [ENSMUST00000192847]
Predicted Effect probably benign
Transcript: ENSMUST00000118000
AA Change: V55I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: V55I

DomainStartEndE-ValueType
low complexity region 123 135 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 192 204 N/A INTRINSIC
RGS 246 362 2.09e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133521
Predicted Effect probably benign
Transcript: ENSMUST00000147158
AA Change: V55I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: V55I

DomainStartEndE-ValueType
low complexity region 92 104 N/A INTRINSIC
Pfam:RGS 146 200 2.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192847
SMART Domains Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 342 1e-102 PFAM
Pfam:V-ATPase_H_C 332 423 2.7e-25 PFAM
Pfam:Arm_2 339 427 4.6e-5 PFAM
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 family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,282,482 Y1764C probably damaging Het
Agbl3 T C 6: 34,799,159 V200A possibly damaging Het
Akr1b10 T C 6: 34,394,106 S264P possibly damaging Het
Camkmt T G 17: 85,458,123 L319* probably null Het
Cdhr2 T C 13: 54,720,152 W513R probably damaging Het
Cts8 T C 13: 61,251,578 Y189C probably damaging Het
Cyp2d10 T A 15: 82,404,490 T264S probably benign Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dnah8 G A 17: 30,790,941 V3769M probably damaging Het
Dnajc16 C A 4: 141,768,003 G468V probably damaging Het
Eif3d A T 15: 77,961,869 N351K probably benign Het
F5 T C 1: 164,179,524 M299T probably benign Het
Fcamr G A 1: 130,813,214 V457M probably benign Het
Gm4763 A T 7: 24,723,506 L129H probably damaging Het
Heatr5b A G 17: 78,765,437 L1599P probably damaging Het
Kl A T 5: 150,980,787 I335F possibly damaging Het
Knop1 A G 7: 118,852,798 Y233H probably damaging Het
Lhcgr T C 17: 88,753,736 probably benign Het
Macrod2 A T 2: 142,176,658 N237I possibly damaging Het
Myo7a T C 7: 98,051,659 S2168G probably benign Het
Naxe T C 3: 88,057,983 I108V probably benign Het
Ncbp1 T A 4: 46,161,307 W428R probably damaging Het
Nxpe3 T C 16: 55,844,232 I542V probably damaging Het
Phkb T A 8: 85,957,587 S424R probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Rpgr T C X: 10,208,709 I233V possibly damaging Het
Slc25a31 T C 3: 40,724,877 S258P probably benign Het
Soat1 A C 1: 156,434,196 V414G probably damaging Het
St18 A T 1: 6,833,594 E693V probably damaging Het
Svil T C 18: 5,063,555 V1029A probably benign Het
Tnfaip3 C A 10: 19,005,126 V398L probably damaging Het
Ubap1 A G 4: 41,379,562 T259A probably benign Het
Wdr7 A G 18: 63,927,327 E1347G possibly damaging Het
Other mutations in Rgs20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Rgs20 APN 1 5070077 missense possibly damaging 0.85
IGL01691:Rgs20 APN 1 4916922 missense probably benign 0.00
R0573:Rgs20 UTSW 1 5020814 missense possibly damaging 0.85
R1274:Rgs20 UTSW 1 4912447 missense probably damaging 1.00
R1305:Rgs20 UTSW 1 5021039 unclassified probably null
R1513:Rgs20 UTSW 1 4912337 missense probably damaging 1.00
R1568:Rgs20 UTSW 1 5020827 missense probably benign 0.00
R1763:Rgs20 UTSW 1 4910640 missense probably damaging 1.00
R1794:Rgs20 UTSW 1 4910572 missense probably damaging 1.00
R2118:Rgs20 UTSW 1 4916890 splice site probably benign
R2437:Rgs20 UTSW 1 5070147 splice site probably null
R3029:Rgs20 UTSW 1 5070053 missense probably benign 0.00
R4665:Rgs20 UTSW 1 5021008 missense probably benign 0.00
R5014:Rgs20 UTSW 1 4910547 missense probably damaging 1.00
R5433:Rgs20 UTSW 1 5070110 missense possibly damaging 0.93
R5620:Rgs20 UTSW 1 4912443 missense probably damaging 1.00
R5880:Rgs20 UTSW 1 4923881 missense probably damaging 0.99
R5990:Rgs20 UTSW 1 4912330 missense probably benign 0.11
R6188:Rgs20 UTSW 1 5020883 frame shift probably null
Posted On2012-12-06