Incidental Mutation 'R9597:Rgs2'
ID 723315
Institutional Source Beutler Lab
Gene Symbol Rgs2
Ensembl Gene ENSMUSG00000026360
Gene Name regulator of G-protein signaling 2
Synonyms GOS8
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R9597 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 143875076-143879887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143877826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 125 (F125L)
Ref Sequence ENSEMBL: ENSMUSP00000140548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027606] [ENSMUST00000127206] [ENSMUST00000153527]
AlphaFold O08849
Predicted Effect probably benign
Transcript: ENSMUST00000027606
Predicted Effect probably benign
Transcript: ENSMUST00000127206
SMART Domains Protein: ENSMUSP00000115558
Gene: ENSMUSG00000026360

DomainStartEndE-ValueType
RGS 83 199 4.5e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153527
AA Change: F125L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140548
Gene: ENSMUSG00000026360
AA Change: F125L

DomainStartEndE-ValueType
RGS 51 130 1.6e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]
PHENOTYPE: Heterozygous and homozygous mice for one allele display equivalent levels of blood pressure elevation, renovascular defects, persistent constriction of the resistance vasculature, and prolonged response of the vasculature to vasoconstrictors in vivo. Mice homozygous for another allele appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,578,813 (GRCm39) E952G possibly damaging Het
Abhd12 T C 2: 150,688,198 (GRCm39) I170V probably benign Het
Ankmy1 A G 1: 92,804,773 (GRCm39) V840A Het
Arhgap18 T A 10: 26,788,655 (GRCm39) V589D probably damaging Het
Armc7 A G 11: 115,379,712 (GRCm39) T137A probably benign Het
Bcl9 A T 3: 97,117,323 (GRCm39) I457K probably benign Het
Ccdc148 A T 2: 58,893,397 (GRCm39) Y78N probably benign Het
Ccdc24 A G 4: 117,729,348 (GRCm39) V43A probably damaging Het
Cep68 G A 11: 20,188,506 (GRCm39) T633I probably benign Het
Cfap157 T C 2: 32,669,753 (GRCm39) I277V probably benign Het
Clec4a2 C A 6: 123,116,291 (GRCm39) A152E probably benign Het
Crocc2 G T 1: 93,118,217 (GRCm39) C380F probably benign Het
Cyp2ab1 A T 16: 20,135,340 (GRCm39) M54K probably benign Het
Fbn1 C A 2: 125,187,906 (GRCm39) R1541L probably benign Het
Fem1c G T 18: 46,638,362 (GRCm39) L547I probably damaging Het
Firrm A T 1: 163,804,340 (GRCm39) L331Q probably null Het
Fras1 A G 5: 96,888,551 (GRCm39) D2699G probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Kcnn2 T C 18: 45,816,149 (GRCm39) V460A probably benign Het
Krt81 T C 15: 101,358,919 (GRCm39) I278V probably benign Het
Lrp2 T A 2: 69,260,703 (GRCm39) E4509D probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Myh2 G A 11: 67,064,302 (GRCm39) D86N possibly damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Neto1 T C 18: 86,422,821 (GRCm39) S93P possibly damaging Het
Obscn G T 11: 59,027,009 (GRCm39) R65S probably benign Het
Or52e8 A G 7: 104,624,413 (GRCm39) F264L probably benign Het
Pcdh7 A G 5: 57,877,197 (GRCm39) T251A possibly damaging Het
Pramel15 A T 4: 144,103,526 (GRCm39) V200E probably damaging Het
Prdm14 T C 1: 13,192,657 (GRCm39) K361E possibly damaging Het
Scd2 C A 19: 44,288,246 (GRCm39) Q213K probably damaging Het
Slc23a2 C A 2: 131,904,098 (GRCm39) R454L probably damaging Het
Smg1 T C 7: 117,812,270 (GRCm39) D31G unknown Het
Spata7 T A 12: 98,600,559 (GRCm39) N57K probably damaging Het
Spef2 T C 15: 9,599,897 (GRCm39) M1983V unknown Het
Srcap G T 7: 127,121,219 (GRCm39) R184L possibly damaging Het
Tafa4 A G 6: 96,991,429 (GRCm39) W7R probably benign Het
Tbpl2 A G 2: 23,977,296 (GRCm39) S241P probably damaging Het
Tcaim A G 9: 122,637,830 (GRCm39) probably null Het
Tep1 G T 14: 51,100,465 (GRCm39) A351E probably damaging Het
Tiparp A G 3: 65,438,701 (GRCm39) T6A probably benign Het
Tmem62 T C 2: 120,829,567 (GRCm39) F437L probably benign Het
Tpp1 A T 7: 105,396,714 (GRCm39) H434Q probably benign Het
Vmn2r17 A G 5: 109,575,669 (GRCm39) Y180C probably damaging Het
Vmn2r52 A T 7: 9,904,719 (GRCm39) Y373* probably null Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Other mutations in Rgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Rgs2 APN 1 143,877,967 (GRCm39) missense probably damaging 1.00
R0189:Rgs2 UTSW 1 143,878,022 (GRCm39) critical splice acceptor site probably null
R0866:Rgs2 UTSW 1 143,877,988 (GRCm39) missense probably damaging 1.00
R2041:Rgs2 UTSW 1 143,877,960 (GRCm39) missense probably damaging 1.00
R4005:Rgs2 UTSW 1 143,877,606 (GRCm39) missense probably benign 0.01
R4654:Rgs2 UTSW 1 143,878,650 (GRCm39) intron probably benign
R5144:Rgs2 UTSW 1 143,877,437 (GRCm39) missense probably benign 0.00
R6125:Rgs2 UTSW 1 143,879,763 (GRCm39) missense probably damaging 1.00
R7180:Rgs2 UTSW 1 143,877,886 (GRCm39) missense probably benign 0.04
R8831:Rgs2 UTSW 1 143,877,497 (GRCm39) missense probably damaging 1.00
R9147:Rgs2 UTSW 1 143,877,925 (GRCm39) missense probably damaging 1.00
R9148:Rgs2 UTSW 1 143,877,925 (GRCm39) missense probably damaging 1.00
R9422:Rgs2 UTSW 1 143,878,783 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATTTATTGGCTAGTCAACACTG -3'
(R):5'- TTCCTGTGCTTCCAGATGGG -3'

Sequencing Primer
(F):5'- GCTAGTCAACACTGCAGATTGATGC -3'
(R):5'- CATTCAGGGCGTTTTTAAAGTCC -3'
Posted On 2022-08-09