Incidental Mutation 'R2409:Rgs5'
ID 248115
Institutional Source Beutler Lab
Gene Symbol Rgs5
Ensembl Gene ENSMUSG00000026678
Gene Name regulator of G-protein signaling 5
Synonyms 1110070A02Rik
MMRRC Submission 040375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2409 (G1)
Quality Score 224
Status Validated
Chromosome 1
Chromosomal Location 169483070-169523367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 169504451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 34 (V34F)
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: V34F

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027997
Gene: ENSMUSG00000026678
AA Change: V34F

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
RGS 64 180 9.08e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152809
AA Change: V34F

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141496
Gene: ENSMUSG00000026678
AA Change: V34F

DomainStartEndE-ValueType
PDB:1AGR|H 1 73 5e-10 PDB
SCOP:d1dk8a_ 51 71 1e-5 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fabp7 A G 10: 57,661,772 (GRCm39) K82E possibly damaging Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Gucy1b2 CCGTGTTT C 14: 62,643,628 (GRCm39) probably null Het
Il3ra G A 14: 14,349,377 (GRCm38) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nfkb1 C T 3: 135,319,704 (GRCm39) E264K possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Sh2b1 C T 7: 126,070,651 (GRCm39) G350D probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P 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
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
Predicted Primers PCR Primer
(F):5'- ATGATTGGAACCCACGTGTC -3'
(R):5'- TCTGAGGACTCTGATGATTTTCAG -3'

Sequencing Primer
(F):5'- GGAACCCACGTGTCCTGTTTTC -3'
(R):5'- TGATTTTCAGTGAATAATGGAAGGG -3'
Posted On 2014-11-11