Incidental Mutation 'R9633:Rgs4'
ID 725643
Institutional Source Beutler Lab
Gene Symbol Rgs4
Ensembl Gene ENSMUSG00000038530
Gene Name regulator of G-protein signaling 4
Synonyms ESTM50, ESTM48
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R9633 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 169569046-169575211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 169572843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 31 (D31V)
Ref Sequence ENSEMBL: ENSMUSP00000027991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027991] [ENSMUST00000111357]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000027991
AA Change: D31V

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027991
Gene: ENSMUSG00000038530
AA Change: D31V

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
RGS 62 178 4.01e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111357
AA Change: D31V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106989
Gene: ENSMUSG00000038530
AA Change: D31V

DomainStartEndE-ValueType
PDB:1AGR|H 1 71 4e-31 PDB
Blast:RGS 8 58 3e-13 BLAST
SCOP:d1agre_ 51 70 5e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele display background dependent partially penetrant embryonic lethality, decreased body weight, and mildly impaired coordination. Another allele displays increased cholesterol levels in males. Mice homozygous for a different null allele exhibit no normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,613,178 (GRCm39) V319A probably damaging Het
Afap1l1 A C 18: 61,890,795 (GRCm39) S53A possibly damaging Het
Alms1 T A 6: 85,600,125 (GRCm39) N1650K probably damaging Het
Atf6b T A 17: 34,872,507 (GRCm39) V553E possibly damaging Het
Avl9 T A 6: 56,707,634 (GRCm39) I193N probably damaging Het
Ceacam3 A G 7: 16,895,688 (GRCm39) N553D Het
Dnah3 C A 7: 119,550,216 (GRCm39) V389L probably benign Het
Erich6 T C 3: 58,537,277 (GRCm39) M246V probably benign Het
F830016B08Rik A T 18: 60,432,965 (GRCm39) D16V probably damaging Het
Fgfr1 T A 8: 26,060,776 (GRCm39) Y483N probably damaging Het
Fmo4 T A 1: 162,631,191 (GRCm39) M259L probably benign Het
Gnat2 T A 3: 108,002,770 (GRCm39) D59E probably benign Het
Izumo3 T A 4: 92,034,795 (GRCm39) Y94F probably damaging Het
Kcnb2 A T 1: 15,781,444 (GRCm39) H772L probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Krt6b C T 15: 101,586,996 (GRCm39) V259M probably benign Het
Lingo2 A G 4: 35,709,885 (GRCm39) C32R Het
Lrrtm4 C T 6: 80,000,064 (GRCm39) T492M probably damaging Het
Maea T A 5: 33,526,050 (GRCm39) M242K possibly damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmadhc A T 2: 50,178,988 (GRCm39) S143R probably benign Het
Ms4a8a A G 19: 11,056,956 (GRCm39) V42A probably benign Het
N4bp2l2 A T 5: 150,585,103 (GRCm39) H292Q probably benign Het
Nkx2-2 A G 2: 147,027,686 (GRCm39) Y85H possibly damaging Het
Pramel14 T C 4: 143,720,818 (GRCm39) K41R possibly damaging Het
Psmb9 T A 17: 34,402,119 (GRCm39) D159V probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a14 A G 9: 119,008,528 (GRCm39) S247P probably benign Het
Slc26a7 G A 4: 14,524,540 (GRCm39) T448I possibly damaging Het
Slc7a14 T A 3: 31,278,166 (GRCm39) T480S probably benign Het
Spocd1 T C 4: 129,850,463 (GRCm39) S830P unknown Het
Sycp2 A G 2: 177,998,254 (GRCm39) S1089P probably damaging Het
Tcf4 A T 18: 69,726,382 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,813 (GRCm39) V457A probably benign Het
Tmem131 A T 1: 36,847,069 (GRCm39) I1343N probably damaging Het
Tnrc6c G A 11: 117,638,009 (GRCm39) A1164T probably damaging Het
Tomm5 G A 4: 45,107,982 (GRCm39) R18W probably damaging Het
Ubxn7 T C 16: 32,200,248 (GRCm39) S335P probably benign Het
Unc5c A C 3: 141,495,654 (GRCm39) T508P probably damaging Het
Upp1 G A 11: 9,084,909 (GRCm39) M209I Het
Vmn1r213 A G 13: 23,195,519 (GRCm39) D34G unknown Het
Vmn1r235 G T 17: 21,482,330 (GRCm39) W218C possibly damaging Het
Vmn1r235 G T 17: 21,482,329 (GRCm39) W218L probably benign Het
Vmn2r57 T C 7: 41,076,006 (GRCm39) E502G probably benign Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,247,852 (GRCm39) H1018Q probably damaging Het
Zfp318 T A 17: 46,710,421 (GRCm39) S715T probably damaging Het
Other mutations in Rgs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Rgs4 APN 1 169,572,085 (GRCm39) nonsense probably null
IGL01624:Rgs4 APN 1 169,572,047 (GRCm39) missense probably benign 0.00
R1654:Rgs4 UTSW 1 169,572,880 (GRCm39) missense probably benign 0.06
R1775:Rgs4 UTSW 1 169,572,847 (GRCm39) missense probably benign 0.00
R3790:Rgs4 UTSW 1 169,571,991 (GRCm39) missense probably damaging 0.99
R4998:Rgs4 UTSW 1 169,572,802 (GRCm39) missense probably benign 0.26
R5934:Rgs4 UTSW 1 169,572,807 (GRCm39) missense possibly damaging 0.95
R7031:Rgs4 UTSW 1 169,571,336 (GRCm39) missense probably benign
R7571:Rgs4 UTSW 1 169,571,927 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCATCTTGACCCAAATCTGG -3'
(R):5'- GTTTTCACCAACGATATCAAAAGCC -3'

Sequencing Primer
(F):5'- CCAAATCTGGCTCAGCTAAGGG -3'
(R):5'- CAAAGGAATCGCTTCTGGGAGTTC -3'
Posted On 2022-09-12