Incidental Mutation 'R3790:Rgs4'
ID 272469
Institutional Source Beutler Lab
Gene Symbol Rgs4
Ensembl Gene ENSMUSG00000038530
Gene Name regulator of G-protein signaling 4
Synonyms ESTM50, ESTM48
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3790 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 169569046-169575211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 169571991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 103 (S103P)
Ref Sequence ENSEMBL: ENSMUSP00000027991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027991] [ENSMUST00000111357]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027991
AA Change: S103P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027991
Gene: ENSMUSG00000038530
AA Change: S103P

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
RGS 62 178 4.01e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111357
SMART Domains Protein: ENSMUSP00000106989
Gene: ENSMUSG00000038530

DomainStartEndE-ValueType
PDB:1AGR|H 1 71 4e-31 PDB
Blast:RGS 8 58 3e-13 BLAST
SCOP:d1agre_ 51 70 5e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132567
Meta Mutation Damage Score 0.1431 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 G A 17: 13,147,460 (GRCm39) Q186* probably null Het
Alk A G 17: 72,910,427 (GRCm39) L93P possibly damaging Het
Ankrd24 C T 10: 81,478,513 (GRCm39) probably benign Het
Anks6 A T 4: 47,049,212 (GRCm39) V231E probably damaging Het
Ap5z1 C T 5: 142,456,168 (GRCm39) S329L probably benign Het
Asic4 C A 1: 75,446,485 (GRCm39) probably benign Het
Cemip2 T G 19: 21,784,816 (GRCm39) I433S probably damaging Het
Cers4 C A 8: 4,568,285 (GRCm39) Q113K possibly damaging Het
Ces3b A T 8: 105,813,520 (GRCm39) I264F possibly damaging Het
Cops3 T C 11: 59,718,797 (GRCm39) M166V probably benign Het
Corin T C 5: 72,592,641 (GRCm39) Q184R probably benign Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Gm53 T C 11: 96,142,477 (GRCm39) noncoding transcript Het
Hmcn1 A G 1: 150,498,745 (GRCm39) S4045P probably benign Het
Kif22 A G 7: 126,628,668 (GRCm39) L480P probably damaging Het
Lepr A T 4: 101,648,111 (GRCm39) probably benign Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Lnx1 A G 5: 74,789,027 (GRCm39) probably benign Het
Lrsam1 T C 2: 32,848,171 (GRCm39) E43G probably null Het
Mug1 G A 6: 121,861,587 (GRCm39) V1350I probably benign Het
Nbea T A 3: 55,912,450 (GRCm39) E1112D probably benign Het
Nepn T A 10: 52,276,626 (GRCm39) L60I probably damaging Het
Oas1e T C 5: 120,933,475 (GRCm39) E30G probably damaging Het
Or4c122 A G 2: 89,079,337 (GRCm39) F234L probably benign Het
Or4k5 A C 14: 50,386,026 (GRCm39) F102V possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Prmt8 A T 6: 127,688,110 (GRCm39) I236N probably damaging Het
Psg23 C A 7: 18,346,126 (GRCm39) V190L probably benign Het
Psg29 A G 7: 16,938,950 (GRCm39) K75E possibly damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sis T C 3: 72,828,747 (GRCm39) Y1144C probably damaging Het
Slc16a14 T C 1: 84,907,001 (GRCm39) probably benign Het
Snrnp35 T A 5: 124,628,248 (GRCm39) D20E probably damaging Het
Syce1l C A 8: 114,369,897 (GRCm39) A10E possibly damaging Het
Tdp1 A G 12: 99,858,011 (GRCm39) probably benign Het
Tmem212 T C 3: 27,940,594 (GRCm39) probably null Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn C A 2: 76,568,471 (GRCm39) C27474F probably damaging Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vars1 A G 17: 35,218,310 (GRCm39) V48A probably benign Het
Vmn2r1 T C 3: 63,994,185 (GRCm39) probably null Het
Washc2 A G 6: 116,224,933 (GRCm39) probably benign Het
Zfp943 A G 17: 22,211,403 (GRCm39) D163G possibly damaging Het
Zmym5 T C 14: 57,031,230 (GRCm39) Y626C 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
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
R9633:Rgs4 UTSW 1 169,572,843 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCTCAGTGGCTCCTTTAACTAG -3'
(R):5'- CGTTGGAAAACCTGATTCACC -3'

Sequencing Primer
(F):5'- AGTAGTTCTAAAGATCCCTGACCCTG -3'
(R):5'- GGAAAACCTGATTCACCATGAATG -3'
Posted On 2015-03-25