Incidental Mutation 'R5433:Rgs20'
ID 428129
Institutional Source Beutler Lab
Gene Symbol Rgs20
Ensembl Gene ENSMUSG00000002459
Gene Name regulator of G-protein signaling 20
Synonyms Rgsz1, 2900073E09Rik
MMRRC Submission 042998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5433 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 4979799-5140508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5140333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 23 (A23E)
Ref Sequence ENSEMBL: ENSMUSP00000117380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118000] [ENSMUST00000147158] [ENSMUST00000192847]
AlphaFold Q9QZB1
Predicted Effect probably benign
Transcript: ENSMUST00000118000
AA Change: A23E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: A23E

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 possibly damaging
Transcript: ENSMUST00000147158
AA Change: A23E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: A23E

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (58/58)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,657 (GRCm39) S24G probably damaging Het
1810064F22Rik A G 9: 22,119,039 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,592,078 (GRCm39) M589L probably benign Het
Adamts8 A C 9: 30,873,012 (GRCm39) H739P probably benign Het
Atp8b2 T C 3: 89,860,216 (GRCm39) probably benign Het
BC030500 A G 8: 59,366,043 (GRCm39) probably benign Het
Btnl9 T A 11: 49,066,830 (GRCm39) probably benign Het
Cd74 G T 18: 60,940,993 (GRCm39) A31S probably benign Het
Ceacam3 G A 7: 16,893,808 (GRCm39) A440T possibly damaging Het
Ces1d G A 8: 93,912,664 (GRCm39) T258I probably benign Het
Col10a1 A G 10: 34,266,735 (GRCm39) probably benign Het
Coro1b C T 19: 4,203,449 (GRCm39) A430V probably benign Het
Cyp2c65 A T 19: 39,081,928 (GRCm39) I485L probably benign Het
Dio1 A T 4: 107,163,977 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,000,966 (GRCm39) probably null Het
Dynlt5 A G 4: 102,859,700 (GRCm39) E84G possibly damaging Het
Elp6 A G 9: 110,144,851 (GRCm39) Y136C probably damaging Het
Gon4l A T 3: 88,803,532 (GRCm39) Q1382L possibly damaging Het
Guca1a T C 17: 47,711,295 (GRCm39) E17G probably damaging Het
Gucy2d G A 7: 98,098,982 (GRCm39) G267E probably damaging Het
Gvin3 T A 7: 106,199,314 (GRCm39) noncoding transcript Het
Hspg2 T A 4: 137,256,105 (GRCm39) probably null Het
Il1a G T 2: 129,149,821 (GRCm39) D26E possibly damaging Het
Il22b T A 10: 118,130,789 (GRCm39) I36F probably damaging Het
Kcna1 A T 6: 126,620,075 (GRCm39) F82I probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lamtor5 T G 3: 107,189,323 (GRCm39) C120G probably benign Het
Lars1 A G 18: 42,384,363 (GRCm39) C72R possibly damaging Het
Lrrfip1 T G 1: 91,014,848 (GRCm39) probably null Het
Mapkapk3 T C 9: 107,133,491 (GRCm39) D349G probably damaging Het
Mknk2 A T 10: 80,503,059 (GRCm39) I421N probably benign Het
Myh6 A G 14: 55,191,381 (GRCm39) I820T probably benign Het
Notch2 T G 3: 98,033,450 (GRCm39) V1182G probably damaging Het
Or1af1 T G 2: 37,109,684 (GRCm39) F61C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2z2 C T 11: 58,346,680 (GRCm39) V32M probably damaging Het
Ppfia4 A T 1: 134,245,632 (GRCm39) S641T probably damaging Het
Prok1 T A 3: 107,146,949 (GRCm39) H6L probably benign Het
Ptprm A T 17: 67,000,468 (GRCm39) V1172E probably damaging Het
Rasal3 C T 17: 32,612,575 (GRCm39) R762Q probably benign Het
Rprd1a T C 18: 24,640,288 (GRCm39) T163A probably benign Het
Rrm1 A T 7: 102,114,974 (GRCm39) N37I probably damaging Het
Shc4 T A 2: 125,481,350 (GRCm39) E520V probably damaging Het
Slc14a2 G T 18: 78,252,143 (GRCm39) P56Q probably damaging Het
Slc22a3 C T 17: 12,677,377 (GRCm39) G264S probably damaging Het
Svil A G 18: 5,059,294 (GRCm39) E770G probably damaging Het
Svop A G 5: 114,198,186 (GRCm39) V129A probably damaging Het
Szt2 A T 4: 118,232,663 (GRCm39) probably benign Het
Tcof1 T C 18: 60,951,105 (GRCm39) probably benign Het
Tmem30a T A 9: 79,687,930 (GRCm39) I80F probably damaging Het
Vmn2r16 G T 5: 109,511,708 (GRCm39) L638F probably damaging Het
Xkr7 T A 2: 152,896,244 (GRCm39) I366N probably damaging Het
Zer1 A G 2: 29,990,998 (GRCm39) probably benign 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
IGL01691:Rgs20 APN 1 4,987,145 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCTACCATGATACAACTGGCTACTG -3'
(R):5'- GCTTTGCTTTGAGTAACTTTGCAAG -3'

Sequencing Primer
(F):5'- GCTACTGCCTTAATATTCTTCACAG -3'
(R):5'- GTAACTTTGCAAGAAGGTCCAC -3'
Posted On 2016-09-01