Incidental Mutation 'R2041:Rgs2'
ID 224874
Institutional Source Beutler Lab
Gene Symbol Rgs2
Ensembl Gene ENSMUSG00000026360
Gene Name regulator of G-protein signaling 2
Synonyms GOS8
MMRRC Submission 040048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R2041 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 143875076-143879887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143877960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 80 (F80S)
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 damaging
Transcript: ENSMUST00000127206
AA Change: F112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115558
Gene: ENSMUSG00000026360
AA Change: F112S

DomainStartEndE-ValueType
RGS 83 199 4.5e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134817
Predicted Effect probably damaging
Transcript: ENSMUST00000153527
AA Change: F80S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140548
Gene: ENSMUSG00000026360
AA Change: F80S

DomainStartEndE-ValueType
RGS 51 130 1.6e-11 SMART
Meta Mutation Damage Score 0.9691 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,211 (GRCm39) D265E probably damaging Het
2610021A01Rik A G 7: 41,275,403 (GRCm39) R369G possibly damaging Het
Actr3b T C 5: 25,965,128 (GRCm39) probably null Het
Adamts12 A T 15: 11,215,821 (GRCm39) M281L probably damaging Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Akap12 C T 10: 4,306,489 (GRCm39) P1100S probably benign Het
Alox8 T A 11: 69,088,517 (GRCm39) H40L possibly damaging Het
Anks1 T A 17: 28,227,388 (GRCm39) F659L probably damaging Het
Asxl3 G T 18: 22,656,508 (GRCm39) R1506L probably benign Het
Bicd2 A G 13: 49,495,252 (GRCm39) T36A probably benign Het
Ccar1 A T 10: 62,601,827 (GRCm39) L448Q probably damaging Het
Ccdc17 T G 4: 116,456,789 (GRCm39) N497K probably damaging Het
Chek2 T C 5: 110,996,530 (GRCm39) I164T probably damaging Het
Cntnap5c T C 17: 58,411,765 (GRCm39) probably null Het
Cntnap5c T A 17: 58,505,984 (GRCm39) D669E probably benign Het
Cpsf6 A G 10: 117,195,033 (GRCm39) I482T probably damaging Het
Csf3 C T 11: 98,592,483 (GRCm39) S65L possibly damaging Het
Dlc1 A G 8: 37,049,922 (GRCm39) Y1049H probably damaging Het
Dnah6 T C 6: 73,050,422 (GRCm39) D3048G probably damaging Het
Eif4g3 T A 4: 137,832,617 (GRCm39) probably benign Het
Epb41l4b T C 4: 57,084,070 (GRCm39) K195R probably damaging Het
Epn1 T C 7: 5,086,874 (GRCm39) S41P probably damaging Het
Fam120a C A 13: 49,051,243 (GRCm39) V721L probably benign Het
Fchsd1 T A 18: 38,100,729 (GRCm39) probably null Het
Fer1l6 G A 15: 58,430,155 (GRCm39) G194D probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fyb1 A C 15: 6,674,268 (GRCm39) T635P possibly damaging Het
Gpr153 A G 4: 152,367,810 (GRCm39) S554G probably benign Het
Grm1 A G 10: 10,622,347 (GRCm39) F459L probably damaging Het
H60c C T 10: 3,209,972 (GRCm39) G105D probably damaging Het
Ifnlr1 T A 4: 135,433,148 (GRCm39) M528K possibly damaging Het
Lama4 A T 10: 38,945,987 (GRCm39) D790V probably damaging Het
Mfsd13b T C 7: 120,591,139 (GRCm39) probably benign Het
Mis12 T A 11: 70,916,132 (GRCm39) I55N probably damaging Het
Morn1 T C 4: 155,175,399 (GRCm39) Y103H probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Ndst3 C A 3: 123,465,864 (GRCm39) G36V probably benign Het
Nlrp4a T A 7: 26,149,611 (GRCm39) M406K probably damaging Het
Or4p18 T C 2: 88,232,568 (GRCm39) T237A probably damaging Het
Or51t4 T A 7: 102,598,170 (GRCm39) V156E probably damaging Het
Or5b106 A T 19: 13,124,041 (GRCm39) probably benign Het
Or7g32 A T 9: 19,408,131 (GRCm39) D29V probably benign Het
Or9m1 T C 2: 87,733,141 (GRCm39) N293S probably damaging Het
Pars2 A G 4: 106,510,814 (GRCm39) T199A probably damaging Het
Plcb4 C T 2: 135,780,191 (GRCm39) T172I probably damaging Het
Pomgnt2 A T 9: 121,811,354 (GRCm39) W476R probably benign Het
Psg23 T A 7: 18,348,703 (GRCm39) S35C possibly damaging Het
Pycr3 T A 15: 75,791,144 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Sall1 A G 8: 89,759,429 (GRCm39) L225P probably benign Het
Setd3 A G 12: 108,079,651 (GRCm39) I284T possibly damaging Het
Slc4a9 C T 18: 36,663,846 (GRCm39) T290I possibly damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Ube3b T C 5: 114,525,294 (GRCm39) L39P probably damaging Het
Ubr2 C A 17: 47,296,973 (GRCm39) R269L probably damaging Het
Vrk2 A T 11: 26,497,914 (GRCm39) I90K probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp984 A T 4: 147,839,796 (GRCm39) C352S 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
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
R9597:Rgs2 UTSW 1 143,877,826 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACAGGGCTCTTCTCACTTG -3'
(R):5'- CCTACTGGCATCTTAGTGCTTAAAG -3'

Sequencing Primer
(F):5'- GGCTCTTCTCACTTGTGCTTGAATG -3'
(R):5'- GCTTAAAGAGCCAGACCTAGAG -3'
Posted On 2014-08-25