Incidental Mutation 'R0603:Rgs18'
ID 55521
Institutional Source Beutler Lab
Gene Symbol Rgs18
Ensembl Gene ENSMUSG00000026357
Gene Name regulator of G-protein signaling 18
Synonyms
MMRRC Submission 038792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0603 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 144628430-144651165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144631818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 98 (D98V)
Ref Sequence ENSEMBL: ENSMUSP00000027603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027603]
AlphaFold Q99PG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000027603
AA Change: D98V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027603
Gene: ENSMUSG00000026357
AA Change: D98V

DomainStartEndE-ValueType
RGS 86 202 5.42e-47 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc7 A G 5: 122,578,233 (GRCm39) N406S probably benign Het
Arhgap4 C T X: 72,950,389 (GRCm39) R54Q probably damaging Het
Asb15 T A 6: 24,556,556 (GRCm39) I17N probably damaging Het
Atp8a1 T C 5: 67,914,039 (GRCm39) probably null Het
Caprin1 A G 2: 103,627,146 (GRCm39) V47A probably benign Het
Col4a2 T C 8: 11,464,779 (GRCm39) V348A probably benign Het
Disp2 A G 2: 118,622,487 (GRCm39) K1073R probably damaging Het
Dmxl2 G A 9: 54,313,190 (GRCm39) H1686Y possibly damaging Het
Dzank1 C T 2: 144,353,432 (GRCm39) V152I probably benign Het
Elp1 A T 4: 56,792,105 (GRCm39) I221N possibly damaging Het
Evl T A 12: 108,614,681 (GRCm39) I25N probably damaging Het
Fam117a A G 11: 95,271,699 (GRCm39) K424E probably damaging Het
Gm17732 C T 18: 62,795,823 (GRCm39) probably benign Het
Gpr158 T C 2: 21,820,480 (GRCm39) I659T possibly damaging Het
Hectd4 T A 5: 121,442,400 (GRCm39) V1280E possibly damaging Het
Irs4 T C X: 140,508,071 (GRCm39) T42A probably damaging Het
Kdm4a C T 4: 117,999,708 (GRCm39) V905I probably damaging Het
Lmtk3 T A 7: 45,444,980 (GRCm39) probably benign Het
Lsp1 G A 7: 142,043,115 (GRCm39) R221H probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mmut A T 17: 41,258,057 (GRCm39) I408F probably damaging Het
Nckap1 A T 2: 80,343,073 (GRCm39) V942E probably benign Het
Neto1 T A 18: 86,491,785 (GRCm39) C229S possibly damaging Het
Nipal2 A G 15: 34,650,544 (GRCm39) I63T probably damaging Het
Or11g2 T C 14: 50,855,967 (GRCm39) I96T probably damaging Het
Or1af1 G A 2: 37,110,118 (GRCm39) V206I probably damaging Het
Or4k49 A T 2: 111,495,225 (GRCm39) Y218F probably damaging Het
Or7e165 A T 9: 19,695,235 (GRCm39) R269W probably damaging Het
Or8g36 C A 9: 39,422,810 (GRCm39) V69F possibly damaging Het
Pgpep1 T C 8: 71,103,283 (GRCm39) E120G probably benign Het
Pkhd1 A T 1: 20,187,397 (GRCm39) M3637K probably benign Het
Pkm T C 9: 59,573,164 (GRCm39) V58A probably damaging Het
Ppp2r1b C A 9: 50,772,985 (GRCm39) T154K probably damaging Het
Rsph6a G T 7: 18,799,886 (GRCm39) A506S possibly damaging Het
Selenop T A 15: 3,305,183 (GRCm39) V113E probably damaging Het
Slc6a11 G A 6: 114,221,851 (GRCm39) V514M probably benign Het
Srsf9 C T 5: 115,470,696 (GRCm39) S132L probably damaging Het
Tchh G A 3: 93,351,088 (GRCm39) R176H possibly damaging Het
Tcp11 T C 17: 28,286,784 (GRCm39) N405S probably damaging Het
Tle1 A C 4: 72,036,584 (GRCm39) D760E probably damaging Het
Tmem178 A G 17: 81,252,488 (GRCm39) D124G possibly damaging Het
Trabd G A 15: 88,966,929 (GRCm39) E118K probably damaging Het
Ttc39a A G 4: 109,283,499 (GRCm39) D115G probably damaging Het
Uaca T A 9: 60,778,379 (GRCm39) M920K possibly damaging Het
Uba2 A T 7: 33,861,038 (GRCm39) M5K probably damaging Het
Unc5c C T 3: 141,476,863 (GRCm39) P343L probably damaging Het
Wdhd1 T C 14: 47,501,043 (GRCm39) D453G probably damaging Het
Wfdc8 A G 2: 164,445,145 (GRCm39) Y157H probably damaging Het
Zbbx T G 3: 74,985,757 (GRCm39) K432Q probably benign Het
Zeb2 G A 2: 44,907,438 (GRCm39) T169M probably benign Het
Zfp956 A G 6: 47,932,962 (GRCm39) E79G probably damaging Het
Zzef1 G A 11: 72,708,895 (GRCm39) V165I 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
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
R8010:Rgs18 UTSW 1 144,631,738 (GRCm39) missense probably benign 0.30
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'- GGTCAAAGCAGACCCTATGAAAGTCC -3'
(R):5'- GCTGTCCATAGTTAGAACTGGCAGTG -3'

Sequencing Primer
(F):5'- CCAAGTGTTTTCAATTGTCACAG -3'
(R):5'- TATAATCCCGCCTCATCTTAGAGAG -3'
Posted On 2013-07-11