Incidental Mutation 'R8010:Rgs18'
ID 616834
Institutional Source Beutler Lab
Gene Symbol Rgs18
Ensembl Gene ENSMUSG00000026357
Gene Name regulator of G-protein signaling 18
Synonyms
MMRRC Submission 046050-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 144628430-144651165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144631738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 125 (C125R)
Ref Sequence ENSEMBL: ENSMUSP00000027603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027603]
AlphaFold Q99PG4
Predicted Effect probably benign
Transcript: ENSMUST00000027603
AA Change: C125R

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027603
Gene: ENSMUSG00000026357
AA Change: C125R

DomainStartEndE-ValueType
RGS 86 202 5.42e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show reduced thermal nociception threshold, increased startle reflex, thrombocytopenia, defective megakaryopoiesis, and increased platelet aggregation. Homozygotes for a different null allele show decreased bleeding time, increased platelet aggregation, and thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,557,303 (GRCm39) H130L probably benign Het
Abca1 A G 4: 53,127,600 (GRCm39) S140P probably benign Het
Aoc1 T C 6: 48,882,582 (GRCm39) Y153H probably benign Het
Arhgdib A G 6: 136,903,720 (GRCm39) I118T probably damaging Het
Atp1a3 T A 7: 24,680,070 (GRCm39) E865V possibly damaging Het
Atrnl1 T C 19: 57,670,878 (GRCm39) V587A probably benign Het
Ccdc107 G T 4: 43,495,768 (GRCm39) E199* probably null Het
Cd55 A T 1: 130,387,353 (GRCm39) D148E probably benign Het
Cdc42ep1 C T 15: 78,731,999 (GRCm39) T148I possibly damaging Het
Cep164 A T 9: 45,734,969 (GRCm39) D19E unknown Het
Chsy3 A G 18: 59,543,226 (GRCm39) Y788C probably damaging Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Cubn A G 2: 13,340,897 (GRCm39) probably null Het
Ddr1 T A 17: 36,002,384 (GRCm39) M175L possibly damaging Het
Dicer1 C A 12: 104,658,391 (GRCm39) K1850N probably damaging Het
Dnajc6 C T 4: 101,475,611 (GRCm39) R495C probably benign Het
Ecpas T A 4: 58,832,681 (GRCm39) Q893L unknown Het
Fbh1 A T 2: 11,772,443 (GRCm39) N79K probably benign Het
Frmpd1 T A 4: 45,284,272 (GRCm39) V1031D possibly damaging Het
Gm7298 A G 6: 121,712,542 (GRCm39) E118G probably benign Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Jcad A G 18: 4,674,581 (GRCm39) D781G probably benign Het
Kitl A T 10: 99,887,765 (GRCm39) T25S probably benign Het
Krt5 T C 15: 101,620,791 (GRCm39) D152G probably damaging Het
Krtap5-5 T C 7: 141,783,648 (GRCm39) M1V probably null Het
Ktn1 C T 14: 47,943,230 (GRCm39) T862I possibly damaging Het
Mapk4 A T 18: 74,063,647 (GRCm39) I525N probably benign Het
Megf6 T C 4: 154,354,964 (GRCm39) F1457S probably benign Het
Mrm3 A T 11: 76,141,173 (GRCm39) S394C probably damaging Het
Mtmr4 T G 11: 87,489,690 (GRCm39) V71G probably damaging Het
Nek8 T C 11: 78,067,422 (GRCm39) Y4C probably damaging Het
Or13g1 T A 7: 85,956,260 (GRCm39) E20D probably benign Het
Or5ac21 T C 16: 59,123,867 (GRCm39) M117T probably damaging Het
Or7g30 A T 9: 19,352,988 (GRCm39) I260L probably benign Het
Pla2r1 T C 2: 60,345,304 (GRCm39) T351A probably benign Het
Plcb4 C T 2: 135,749,480 (GRCm39) T49M probably benign Het
Psg20 T C 7: 18,414,992 (GRCm39) D301G probably benign Het
Ptpn13 C T 5: 103,707,803 (GRCm39) Q1455* probably null Het
Rbbp8 A T 18: 11,855,290 (GRCm39) N505I possibly damaging Het
Rpap2 G A 5: 107,751,471 (GRCm39) C105Y probably damaging Het
Scn10a C T 9: 119,490,233 (GRCm39) G570R possibly damaging Het
Sell C T 1: 163,893,081 (GRCm39) T99I possibly damaging Het
Slc14a1 A T 18: 78,159,704 (GRCm39) M63K probably benign Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Syne2 A T 12: 75,977,512 (GRCm39) D1319V probably benign Het
Tdp2 C T 13: 25,020,010 (GRCm39) T99I probably damaging Het
Tet3 A T 6: 83,380,228 (GRCm39) S647T unknown Het
Tpd52l1 T G 10: 31,234,009 (GRCm39) D48A possibly damaging Het
Ttll10 T C 4: 156,131,618 (GRCm39) D169G probably damaging Het
Wars2 C A 3: 99,124,146 (GRCm39) L336I probably benign Het
Wdfy4 C A 14: 32,693,584 (GRCm39) W2906L Het
Xdh A T 17: 74,216,312 (GRCm39) Y711* probably null Het
Xirp1 T A 9: 119,846,890 (GRCm39) R664S probably benign Het
Other mutations in Rgs18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Rgs18 APN 1 144,650,359 (GRCm39) missense probably benign 0.12
pinocchio UTSW 1 144,629,698 (GRCm39) missense probably damaging 1.00
R0603:Rgs18 UTSW 1 144,631,818 (GRCm39) missense possibly damaging 0.92
R1635:Rgs18 UTSW 1 144,629,791 (GRCm39) missense probably benign 0.34
R1923:Rgs18 UTSW 1 144,631,818 (GRCm39) missense possibly damaging 0.77
R2115:Rgs18 UTSW 1 144,629,629 (GRCm39) missense possibly damaging 0.77
R4560:Rgs18 UTSW 1 144,631,720 (GRCm39) missense probably benign
R6409:Rgs18 UTSW 1 144,650,931 (GRCm39) nonsense probably null
R7799:Rgs18 UTSW 1 144,629,603 (GRCm39) missense probably damaging 1.00
R8514:Rgs18 UTSW 1 144,629,765 (GRCm39) missense probably damaging 0.96
R8867:Rgs18 UTSW 1 144,629,698 (GRCm39) missense probably damaging 1.00
R8984:Rgs18 UTSW 1 144,629,566 (GRCm39) missense probably benign 0.00
X0065:Rgs18 UTSW 1 144,649,265 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- AAAATCTTGAGCTCCCTGATGG -3'
(R):5'- GCCAACATATACTGTGTAAATGTGTGG -3'

Sequencing Primer
(F):5'- GGATGAGTGAGGAGTCCACTTTG -3'
(R):5'- GTGGATCCTTGTTGAATTAGAAAGAG -3'
Posted On 2020-01-23