Incidental Mutation 'R1923:Rgs18'
ID 213196
Institutional Source Beutler Lab
Gene Symbol Rgs18
Ensembl Gene ENSMUSG00000026357
Gene Name regulator of G-protein signaling 18
Synonyms
MMRRC Submission 039941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R1923 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 144628430-144651165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144631818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 98 (D98G)
Ref Sequence ENSEMBL: ENSMUSP00000027603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027603]
AlphaFold Q99PG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000027603
AA Change: D98G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027603
Gene: ENSMUSG00000026357
AA Change: D98G

DomainStartEndE-ValueType
RGS 86 202 5.42e-47 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (52/53)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,743 (GRCm39) E163G probably damaging Het
4921513D11Rik A G 17: 79,935,562 (GRCm39) probably benign Het
Acox3 T A 5: 35,749,459 (GRCm39) F195I possibly damaging Het
Acsl6 T C 11: 54,216,417 (GRCm39) Y135H probably damaging Het
Ankhd1 C A 18: 36,781,083 (GRCm39) A2045E probably benign Het
Ap5z1 A G 5: 142,458,096 (GRCm39) H423R probably benign Het
Arsk T A 13: 76,214,985 (GRCm39) probably benign Het
Bpi G A 2: 158,103,083 (GRCm39) G76D probably damaging Het
Carmil3 A G 14: 55,739,861 (GRCm39) T983A probably damaging Het
Ccdc192 A T 18: 57,666,959 (GRCm39) D12V probably damaging Het
Chmp2b A T 16: 65,342,213 (GRCm39) M125K possibly damaging Het
Clca3a2 T A 3: 144,511,491 (GRCm39) I26L probably damaging Het
Cubn T C 2: 13,315,337 (GRCm39) Y3032C probably damaging Het
Ehbp1 T A 11: 22,101,850 (GRCm39) D226V probably damaging Het
Enpp6 A T 8: 47,535,541 (GRCm39) D362V probably damaging Het
Fam53b A G 7: 132,317,521 (GRCm39) S374P probably damaging Het
Fmn1 T C 2: 113,260,066 (GRCm39) probably benign Het
Fndc7 C T 3: 108,784,003 (GRCm39) R202H probably benign Het
Frmd4b T G 6: 97,265,415 (GRCm39) D951A probably benign Het
Git2 A G 5: 114,877,162 (GRCm39) Y107H probably damaging Het
Gm11595 A T 11: 99,663,365 (GRCm39) V105E unknown Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrriq4 C A 3: 30,713,242 (GRCm39) Q448K probably benign Het
Ly6g5c A G 17: 35,330,863 (GRCm39) I128M possibly damaging Het
Mroh9 T A 1: 162,903,860 (GRCm39) S51C probably damaging Het
Myh3 A G 11: 66,970,828 (GRCm39) S2G probably benign Het
Nat8f4 A G 6: 85,878,497 (GRCm39) Y9H probably damaging Het
Negr1 T C 3: 156,267,836 (GRCm39) V2A probably benign Het
Or2y1 C T 11: 49,386,131 (GRCm39) T257I probably damaging Het
Or7g19 C T 9: 18,856,781 (GRCm39) T279I probably benign Het
Or8k32 T G 2: 86,368,857 (GRCm39) Y132S probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pdgfra C A 5: 75,324,394 (GRCm39) T83K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Retreg1 A G 15: 25,969,924 (GRCm39) D109G probably damaging Het
Rgs12 T A 5: 35,189,613 (GRCm39) W674R probably damaging Het
Rnf146 A G 10: 29,223,715 (GRCm39) F57S probably damaging Het
Skic3 T A 13: 76,282,889 (GRCm39) V737D probably damaging Het
Slc22a20 C A 19: 6,021,464 (GRCm39) V513L probably benign Het
Stox2 G T 8: 47,646,661 (GRCm39) F266L probably damaging Het
Tbx21 C T 11: 96,990,863 (GRCm39) V272M probably damaging Het
Tmc7 A G 7: 118,144,850 (GRCm39) F570S probably benign Het
Tmem236 T C 2: 14,224,117 (GRCm39) I302T probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm3 T C 19: 22,862,776 (GRCm39) L506S probably damaging Het
Uggt1 T C 1: 36,218,694 (GRCm39) I78V probably damaging Het
Xpo4 A T 14: 57,828,328 (GRCm39) V844D probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging 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
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'- TATGAAAGTCCAAGGAGTTCCAAG -3'
(R):5'- GTCCTTCTTTCTACTGCTCAAAAGG -3'

Sequencing Primer
(F):5'- CCAAGGAGTTCCAAGTGTTTTC -3'
(R):5'- AATGTGTGGATCCTTGTTGA -3'
Posted On 2014-07-14