Incidental Mutation 'IGL01573:Rgs5'
ID 91157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs5
Ensembl Gene ENSMUSG00000026678
Gene Name regulator of G-protein signaling 5
Synonyms 1110070A02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01573
Quality Score
Status
Chromosome 1
Chromosomal Location 169483070-169523367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 169504413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 21 (I21T)
Ref Sequence ENSEMBL: ENSMUSP00000141496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027997] [ENSMUST00000152809]
AlphaFold O08850
Predicted Effect probably benign
Transcript: ENSMUST00000027997
AA Change: I21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027997
Gene: ENSMUSG00000026678
AA Change: I21T

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
RGS 64 180 9.08e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152809
AA Change: I21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141496
Gene: ENSMUSG00000026678
AA Change: I21T

DomainStartEndE-ValueType
PDB:1AGR|H 1 73 5e-10 PDB
SCOP:d1dk8a_ 51 71 1e-5 SMART
Coding Region Coverage
Validation Efficiency
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gntl1 A G 11: 121,561,789 (GRCm39) S58P probably damaging Het
Cacna1e T C 1: 154,347,113 (GRCm39) D1018G probably benign Het
Cenpq T C 17: 41,240,936 (GRCm39) I108V possibly damaging Het
Il7 T C 3: 7,638,903 (GRCm39) I154M possibly damaging Het
Itga9 C A 9: 118,706,298 (GRCm39) probably benign Het
Klhl1 A G 14: 96,438,640 (GRCm39) probably benign Het
Lrrc72 T A 12: 36,262,561 (GRCm39) probably null Het
Mbd3 G T 10: 80,229,095 (GRCm39) Q233K probably benign Het
Mettl5 G A 2: 69,711,659 (GRCm39) A69V probably damaging Het
Naip1 C A 13: 100,563,890 (GRCm39) C425F probably benign Het
Ncor2 T C 5: 125,162,090 (GRCm39) I395V unknown Het
Nelfb A G 2: 25,093,969 (GRCm39) L393P probably damaging Het
Or4a70 A T 2: 89,324,545 (GRCm39) M37K probably damaging Het
Slc22a2 G A 17: 12,824,848 (GRCm39) V237I probably damaging Het
Slc5a1 A G 5: 33,318,209 (GRCm39) M621V probably benign Het
Slco1a4 A G 6: 141,758,577 (GRCm39) probably benign Het
Smg1 A G 7: 117,767,185 (GRCm39) probably benign Het
Trim3 A G 7: 105,274,700 (GRCm39) M15T possibly damaging Het
Other mutations in Rgs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8864:Rgs5 UTSW 1 169,517,990 (GRCm39) missense probably benign
R8960:Rgs5 UTSW 1 169,504,461 (GRCm39) missense possibly damaging 0.81
R9776:Rgs5 UTSW 1 169,518,089 (GRCm39) nonsense probably null
Posted On 2013-12-09