Incidental Mutation 'R8864:Rgs5'
ID 675797
Institutional Source Beutler Lab
Gene Symbol Rgs5
Ensembl Gene ENSMUSG00000026678
Gene Name regulator of G-protein signaling 5
Synonyms 1110070A02Rik
MMRRC Submission 068680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 169483070-169523367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 169517990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 75 (F75I)
Ref Sequence ENSEMBL: ENSMUSP00000027997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027997]
AlphaFold O08850
Predicted Effect probably benign
Transcript: ENSMUST00000027997
AA Change: F75I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027997
Gene: ENSMUSG00000026678
AA Change: F75I

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
RGS 64 180 9.08e-49 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (41/41)
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 regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted mutation appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,023,497 (GRCm39) C297* probably null Het
Adamts3 T C 5: 89,854,981 (GRCm39) probably benign Het
Best2 T A 8: 85,735,942 (GRCm39) M331L probably benign Het
Cachd1 T A 4: 100,852,026 (GRCm39) S1207R probably damaging Het
Cacna2d3 G T 14: 29,055,735 (GRCm39) N298K probably damaging Het
Cyp2j12 T C 4: 96,009,750 (GRCm39) Y203C probably damaging Het
Dnah8 T C 17: 30,981,616 (GRCm39) I3046T possibly damaging Het
Eif3b T C 5: 140,412,287 (GRCm39) V252A probably benign Het
Ergic2 A G 6: 148,083,393 (GRCm39) V355A probably benign Het
F13a1 C T 13: 37,061,753 (GRCm39) G670D probably damaging Het
Gfpt1 T A 6: 87,031,605 (GRCm39) D82E probably benign Het
Ggnbp2 G A 11: 84,730,902 (GRCm39) R376C probably damaging Het
Grn T C 11: 102,327,211 (GRCm39) F191L unknown Het
Ighv1-16 C T 12: 114,629,619 (GRCm39) G56D probably benign Het
Jrkl T C 9: 13,244,326 (GRCm39) D445G probably benign Het
Loxl3 A G 6: 83,012,739 (GRCm39) T93A probably damaging Het
Lrp1b C T 2: 41,002,718 (GRCm39) A2094T Het
Lrriq3 T A 3: 154,893,575 (GRCm39) D425E probably damaging Het
Majin T C 19: 6,261,650 (GRCm39) V55A possibly damaging Het
Mapk8ip3 A T 17: 25,118,492 (GRCm39) V1192E probably damaging Het
Mdga1 T C 17: 30,150,295 (GRCm39) S106G unknown Het
Mtch2 C T 2: 90,685,274 (GRCm39) R135* probably null Het
Naip1 T C 13: 100,562,828 (GRCm39) N779S possibly damaging Het
Nfia T C 4: 97,951,382 (GRCm39) V403A possibly damaging Het
Npas4 C A 19: 5,038,556 (GRCm39) D121Y probably damaging Het
Rab3gap1 C T 1: 127,837,630 (GRCm39) R231W probably damaging Het
Rangap1 C G 15: 81,610,270 (GRCm39) probably benign Het
Rnf19a T C 15: 36,265,452 (GRCm39) D215G possibly damaging Het
Rwdd4a A T 8: 48,000,876 (GRCm39) probably benign Het
Setd5 G A 6: 113,088,469 (GRCm39) R199H probably damaging Het
Spata31e1 T C 13: 49,940,988 (GRCm39) N241D probably benign Het
Spef2 T C 15: 9,599,833 (GRCm39) Q2004R unknown Het
Syne1 T C 10: 5,370,473 (GRCm39) K236E probably benign Het
Tas2r104 A G 6: 131,662,632 (GRCm39) F26L possibly damaging Het
Tbc1d32 T A 10: 55,963,655 (GRCm39) E954D probably benign Het
Tenm2 A C 11: 35,918,022 (GRCm39) S1914A possibly damaging Het
Tln2 G T 9: 67,237,834 (GRCm39) Y32* probably null Het
Tnc C T 4: 63,911,296 (GRCm39) R1425H probably damaging Het
Unc13b T C 4: 43,174,724 (GRCm39) C1851R unknown Het
Wapl T A 14: 34,414,159 (GRCm39) D340E probably benign Het
Zfp74 T C 7: 29,634,235 (GRCm39) E491G probably damaging Het
Other mutations in Rgs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Rgs5 APN 1 169,504,413 (GRCm39) missense probably benign
R0024:Rgs5 UTSW 1 169,504,461 (GRCm39) missense probably damaging 0.99
R1334:Rgs5 UTSW 1 169,510,386 (GRCm39) critical splice donor site probably null
R1500:Rgs5 UTSW 1 169,517,983 (GRCm39) critical splice acceptor site probably null
R1753:Rgs5 UTSW 1 169,510,386 (GRCm39) critical splice donor site probably null
R1967:Rgs5 UTSW 1 169,504,425 (GRCm39) missense probably benign
R2409:Rgs5 UTSW 1 169,504,451 (GRCm39) missense possibly damaging 0.46
R3831:Rgs5 UTSW 1 169,504,470 (GRCm39) missense probably benign 0.06
R7337:Rgs5 UTSW 1 169,483,149 (GRCm39) start codon destroyed probably null 0.13
R8960:Rgs5 UTSW 1 169,504,461 (GRCm39) missense possibly damaging 0.81
R9776:Rgs5 UTSW 1 169,518,089 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACACATCTCTTGAAAAGTATCTGAGG -3'
(R):5'- ACCTGGGAATGTGATGATCTGG -3'

Sequencing Primer
(F):5'- GACTGCAGAATCATATAGCCTGATGC -3'
(R):5'- GATGATCTGGCTCTTAAATAGCTGC -3'
Posted On 2021-07-15