Incidental Mutation 'IGL01691:Rgs20'
ID 104109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs20
Ensembl Gene ENSMUSG00000002459
Gene Name regulator of G-protein signaling 20
Synonyms Rgsz1, 2900073E09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01691
Quality Score
Status
Chromosome 1
Chromosomal Location 4979799-5140508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4987145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 124 (T124A)
Ref Sequence ENSEMBL: ENSMUSP00000117380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002533] [ENSMUST00000118000] [ENSMUST00000119256] [ENSMUST00000147158] [ENSMUST00000170566]
AlphaFold Q9QZB1
Predicted Effect probably benign
Transcript: ENSMUST00000002533
AA Change: T91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002533
Gene: ENSMUSG00000002459
AA Change: T91A

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 59 71 N/A INTRINSIC
RGS 113 229 2.09e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118000
AA Change: T224A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: T224A

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 probably benign
Transcript: ENSMUST00000119256
AA Change: T60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113324
Gene: ENSMUSG00000002459
AA Change: T60A

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 82 198 2.09e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147158
AA Change: T124A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: T124A

DomainStartEndE-ValueType
low complexity region 92 104 N/A INTRINSIC
Pfam:RGS 146 200 2.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170566
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a T A 3: 32,774,349 (GRCm39) M282K possibly damaging Het
Adam22 T C 5: 8,142,742 (GRCm39) N831S probably damaging Het
Adamdec1 C T 14: 68,810,556 (GRCm39) R200Q probably damaging Het
Asb15 A G 6: 24,567,271 (GRCm39) I531V probably benign Het
Btrc T A 19: 45,501,117 (GRCm39) D223E probably benign Het
Ccdc30 T A 4: 119,250,761 (GRCm39) E161V probably damaging Het
Cd38 G A 5: 44,060,928 (GRCm39) probably benign Het
Clec2d T C 6: 129,161,185 (GRCm39) F94S probably damaging Het
Cwf19l1 C T 19: 44,109,311 (GRCm39) probably null Het
Dnah2 A T 11: 69,430,269 (GRCm39) N96K probably benign Het
Ephb6 G A 6: 41,591,449 (GRCm39) R202H probably benign Het
Gm43191 T A 3: 116,471,616 (GRCm39) I218L probably benign Het
Gm7168 G A 17: 14,169,140 (GRCm39) S169N probably damaging Het
Gm7964 T C 7: 83,405,344 (GRCm39) noncoding transcript Het
Kif20b T C 19: 34,913,143 (GRCm39) probably benign Het
Kmt2e A G 5: 23,702,089 (GRCm39) T906A probably benign Het
Mboat2 A G 12: 25,004,221 (GRCm39) N341D probably damaging Het
Msh6 T C 17: 88,292,907 (GRCm39) V554A probably benign Het
Ndc80 T C 17: 71,815,634 (GRCm39) T384A possibly damaging Het
Or1af1 G T 2: 37,110,038 (GRCm39) C179F probably damaging Het
Or8g18 G A 9: 39,149,315 (GRCm39) T135I probably benign Het
Ptpn5 G T 7: 46,732,906 (GRCm39) H312Q probably benign Het
Rftn2 C T 1: 55,253,445 (GRCm39) V53I probably damaging Het
Sox18 T C 2: 181,313,143 (GRCm39) S58G possibly damaging Het
Togaram2 A G 17: 72,036,485 (GRCm39) M1012V probably null Het
Usp48 A T 4: 137,350,583 (GRCm39) probably null Het
Other mutations in Rgs20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Rgs20 APN 1 5,140,238 (GRCm39) missense probably benign 0.04
IGL01433:Rgs20 APN 1 5,140,300 (GRCm39) missense possibly damaging 0.85
R0573:Rgs20 UTSW 1 5,091,037 (GRCm39) missense possibly damaging 0.85
R1274:Rgs20 UTSW 1 4,982,670 (GRCm39) missense probably damaging 1.00
R1305:Rgs20 UTSW 1 5,091,262 (GRCm39) splice site probably null
R1513:Rgs20 UTSW 1 4,982,560 (GRCm39) missense probably damaging 1.00
R1568:Rgs20 UTSW 1 5,091,050 (GRCm39) missense probably benign 0.00
R1763:Rgs20 UTSW 1 4,980,863 (GRCm39) missense probably damaging 1.00
R1794:Rgs20 UTSW 1 4,980,795 (GRCm39) missense probably damaging 1.00
R2118:Rgs20 UTSW 1 4,987,113 (GRCm39) splice site probably benign
R2437:Rgs20 UTSW 1 5,140,370 (GRCm39) splice site probably null
R3029:Rgs20 UTSW 1 5,140,276 (GRCm39) missense probably benign 0.00
R4665:Rgs20 UTSW 1 5,091,231 (GRCm39) missense probably benign 0.00
R5014:Rgs20 UTSW 1 4,980,770 (GRCm39) missense probably damaging 1.00
R5433:Rgs20 UTSW 1 5,140,333 (GRCm39) missense possibly damaging 0.93
R5620:Rgs20 UTSW 1 4,982,666 (GRCm39) missense probably damaging 1.00
R5880:Rgs20 UTSW 1 4,994,104 (GRCm39) missense probably damaging 0.99
R5990:Rgs20 UTSW 1 4,982,553 (GRCm39) missense probably benign 0.11
R6188:Rgs20 UTSW 1 5,091,106 (GRCm39) frame shift probably null
R7323:Rgs20 UTSW 1 4,982,535 (GRCm39) critical splice donor site probably null
R7459:Rgs20 UTSW 1 4,980,857 (GRCm39) missense probably benign 0.04
R7467:Rgs20 UTSW 1 4,982,553 (GRCm39) missense probably benign 0.11
R8101:Rgs20 UTSW 1 4,982,638 (GRCm39) missense probably benign 0.16
R9087:Rgs20 UTSW 1 4,994,190 (GRCm39) missense possibly damaging 0.88
R9193:Rgs20 UTSW 1 5,091,067 (GRCm39) missense possibly damaging 0.65
R9443:Rgs20 UTSW 1 4,982,629 (GRCm39) nonsense probably null
R9725:Rgs20 UTSW 1 4,980,793 (GRCm39) nonsense probably null
Z1176:Rgs20 UTSW 1 5,140,337 (GRCm39) missense probably benign
Z1177:Rgs20 UTSW 1 5,091,242 (GRCm39) frame shift probably null
Posted On 2014-01-21