Incidental Mutation 'R0801:Rgs8'
ID 76264
Institutional Source Beutler Lab
Gene Symbol Rgs8
Ensembl Gene ENSMUSG00000042671
Gene Name regulator of G-protein signaling 8
Synonyms 6530413N01Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0801 (G1)
Quality Score 199
Status Validated
Chromosome 1
Chromosomal Location 153528612-153573415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153546557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 19 (C19S)
Ref Sequence ENSEMBL: ENSMUSP00000121910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041776] [ENSMUST00000111810] [ENSMUST00000111812] [ENSMUST00000111814] [ENSMUST00000111815] [ENSMUST00000124500] [ENSMUST00000147482] [ENSMUST00000147700] [ENSMUST00000152114]
AlphaFold Q8BXT1
Predicted Effect probably benign
Transcript: ENSMUST00000041776
AA Change: C19S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671
AA Change: C19S

DomainStartEndE-ValueType
RGS 56 172 1.83e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111810
AA Change: C19S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671
AA Change: C19S

DomainStartEndE-ValueType
RGS 56 172 1.83e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111812
AA Change: C19S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671
AA Change: C19S

DomainStartEndE-ValueType
RGS 56 172 1.83e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111814
AA Change: C17S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671
AA Change: C17S

DomainStartEndE-ValueType
RGS 54 170 1.83e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111815
AA Change: C17S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671
AA Change: C17S

DomainStartEndE-ValueType
RGS 54 170 1.83e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124500
AA Change: C19S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122518
Gene: ENSMUSG00000042671
AA Change: C19S

DomainStartEndE-ValueType
Pfam:RGS 56 99 2.3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147482
AA Change: C17S

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118365
Gene: ENSMUSG00000042671
AA Change: C17S

DomainStartEndE-ValueType
Pfam:RGS 54 115 6.5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147700
AA Change: C19S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123565
Gene: ENSMUSG00000042671
AA Change: C19S

DomainStartEndE-ValueType
Pfam:RGS 56 115 1.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152114
AA Change: C19S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671
AA Change: C19S

DomainStartEndE-ValueType
RGS 56 137 1.52e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147794
Meta Mutation Damage Score 0.4836 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and Purkinje cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in Rgs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Rgs8 APN 1 153,568,469 (GRCm39) critical splice acceptor site probably null
IGL02163:Rgs8 APN 1 153,547,511 (GRCm39) missense possibly damaging 0.71
IGL02826:Rgs8 APN 1 153,546,545 (GRCm39) missense probably damaging 1.00
IGL03345:Rgs8 APN 1 153,568,556 (GRCm39) missense probably benign 0.34
R0561:Rgs8 UTSW 1 153,541,668 (GRCm39) splice site probably null
R3618:Rgs8 UTSW 1 153,566,742 (GRCm39) missense probably null 0.35
R4058:Rgs8 UTSW 1 153,566,742 (GRCm39) missense probably null 0.35
R4059:Rgs8 UTSW 1 153,566,742 (GRCm39) missense probably null 0.35
R4877:Rgs8 UTSW 1 153,568,633 (GRCm39) unclassified probably benign
R5070:Rgs8 UTSW 1 153,541,650 (GRCm39) missense probably damaging 0.97
R5841:Rgs8 UTSW 1 153,568,574 (GRCm39) missense probably damaging 1.00
R6028:Rgs8 UTSW 1 153,566,734 (GRCm39) missense probably damaging 1.00
R6413:Rgs8 UTSW 1 153,568,619 (GRCm39) missense probably damaging 1.00
R7682:Rgs8 UTSW 1 153,566,668 (GRCm39) missense probably damaging 1.00
R8746:Rgs8 UTSW 1 153,547,537 (GRCm39) missense probably damaging 1.00
R8951:Rgs8 UTSW 1 153,546,567 (GRCm39) missense probably damaging 0.98
X0028:Rgs8 UTSW 1 153,546,592 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTACCATCAGCTTGCCATGTCAG -3'
(R):5'- GACAACTCGCTAGAGAACAAGGTCC -3'

Sequencing Primer
(F):5'- TTGCCATGTCAGCCTTAAAAAGC -3'
(R):5'- CCAAAGACACCCCAGAGTGTG -3'
Posted On 2013-10-16