Incidental Mutation 'R8864:Rgs5'
ID 675797
Institutional Source Beutler Lab
Gene Symbol Rgs5
Ensembl Gene ENSMUSG00000026678
Gene Name regulator of G-protein signaling 5
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 169655501-169695813 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 169690421 bp (GRCm38)
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

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: 58,890,425 C297* probably null Het
Adamts3 T C 5: 89,707,122 probably benign Het
Best2 T A 8: 85,009,313 M331L probably benign Het
Cachd1 T A 4: 100,994,829 S1207R probably damaging Het
Cacna2d3 G T 14: 29,333,778 N298K probably damaging Het
Cyp2j12 T C 4: 96,121,513 Y203C probably damaging Het
Dnah8 T C 17: 30,762,642 I3046T possibly damaging Het
Eif3b T C 5: 140,426,532 V252A probably benign Het
Ergic2 A G 6: 148,181,895 V355A probably benign Het
F13a1 C T 13: 36,877,779 G670D probably damaging Het
Gfpt1 T A 6: 87,054,623 D82E probably benign Het
Ggnbp2 G A 11: 84,840,076 R376C probably damaging Het
Gm30302 T C 13: 49,787,512 N241D probably benign Het
Grn T C 11: 102,436,385 F191L unknown Het
Ighv1-16 C T 12: 114,665,999 G56D probably benign Het
Jrkl T C 9: 13,244,321 D445G probably benign Het
Loxl3 A G 6: 83,035,758 T93A probably damaging Het
Lrp1b C T 2: 41,112,706 A2094T Het
Lrriq3 T A 3: 155,187,938 D425E probably damaging Het
Majin T C 19: 6,211,620 V55A possibly damaging Het
Mapk8ip3 A T 17: 24,899,518 V1192E probably damaging Het
Mdga1 T C 17: 29,931,321 S106G unknown Het
Mtch2 C T 2: 90,854,930 R135* probably null Het
Naip1 T C 13: 100,426,320 N779S possibly damaging Het
Nfia T C 4: 98,063,145 V403A possibly damaging Het
Npas4 C A 19: 4,988,528 D121Y probably damaging Het
Rab3gap1 C T 1: 127,909,893 R231W probably damaging Het
Rangap1 C G 15: 81,726,069 probably benign Het
Rnf19a T C 15: 36,265,306 D215G possibly damaging Het
Rwdd4a A T 8: 47,547,841 probably benign Het
Setd5 G A 6: 113,111,508 R199H probably damaging Het
Spef2 T C 15: 9,599,747 Q2004R unknown Het
Syne1 T C 10: 5,420,473 K236E probably benign Het
Tas2r104 A G 6: 131,685,669 F26L possibly damaging Het
Tbc1d32 T A 10: 56,087,559 E954D probably benign Het
Tenm2 A C 11: 36,027,195 S1914A possibly damaging Het
Tln2 G T 9: 67,330,552 Y32* probably null Het
Tnc C T 4: 63,993,059 R1425H probably damaging Het
Unc13b T C 4: 43,174,724 C1851R unknown Het
Wapl T A 14: 34,692,202 D340E probably benign Het
Zfp74 T C 7: 29,934,810 E491G probably damaging Het
Other mutations in Rgs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Rgs5 APN 1 169676844 missense probably benign
R0024:Rgs5 UTSW 1 169676892 missense probably damaging 0.99
R1334:Rgs5 UTSW 1 169682817 critical splice donor site probably null
R1500:Rgs5 UTSW 1 169690414 critical splice acceptor site probably null
R1753:Rgs5 UTSW 1 169682817 critical splice donor site probably null
R1967:Rgs5 UTSW 1 169676856 missense probably benign
R2409:Rgs5 UTSW 1 169676882 missense possibly damaging 0.46
R3831:Rgs5 UTSW 1 169676901 missense probably benign 0.06
R7337:Rgs5 UTSW 1 169655580 start codon destroyed probably null 0.13
R8960:Rgs5 UTSW 1 169676892 missense possibly damaging 0.81
R9776:Rgs5 UTSW 1 169690520 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-07-15