Incidental Mutation 'R4005:Rgs2'
ID 311411
Institutional Source Beutler Lab
Gene Symbol Rgs2
Ensembl Gene ENSMUSG00000026360
Gene Name regulator of G-protein signaling 2
Synonyms GOS8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R4005 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 143875076-143879887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143877606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 150 (I150L)
Ref Sequence ENSEMBL: ENSMUSP00000115558 (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
AA Change: I150L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115558
Gene: ENSMUSG00000026360
AA Change: I150L

DomainStartEndE-ValueType
RGS 83 199 4.5e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134817
Predicted Effect probably benign
Transcript: ENSMUST00000153527
SMART Domains Protein: ENSMUSP00000140548
Gene: ENSMUSG00000026360

DomainStartEndE-ValueType
RGS 51 130 1.6e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T A 3: 89,657,094 (GRCm39) L488Q probably damaging Het
Ajm1 T C 2: 25,468,868 (GRCm39) T348A probably benign Het
Arhgef26 T C 3: 62,247,816 (GRCm39) M300T probably benign Het
Asl C T 5: 130,047,673 (GRCm39) probably null Het
Capn10 T A 1: 92,868,313 (GRCm39) L260Q probably damaging Het
Cdhr3 T C 12: 33,130,355 (GRCm39) D160G probably damaging Het
Cep290 A G 10: 100,374,870 (GRCm39) E1372G probably damaging Het
Cpeb2 A G 5: 43,395,755 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,875,390 (GRCm39) A530T probably damaging Het
Cstl1 A T 2: 148,597,190 (GRCm39) I64F probably damaging Het
Ddx28 C G 8: 106,737,560 (GRCm39) R166P possibly damaging Het
Dgkd T C 1: 87,863,145 (GRCm39) I64T possibly damaging Het
Dmxl2 T C 9: 54,353,674 (GRCm39) I765V probably benign Het
Edem3 T C 1: 151,635,506 (GRCm39) M60T probably damaging Het
Farp1 C T 14: 121,513,809 (GRCm39) R844W probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Hmcn1 C G 1: 150,598,204 (GRCm39) L1699F possibly damaging Het
Igsf10 A T 3: 59,235,981 (GRCm39) L1400H probably benign Het
Ikzf3 C T 11: 98,379,843 (GRCm39) E142K probably damaging Het
Ilkap T A 1: 91,312,985 (GRCm39) N170I probably benign Het
Kctd3 T G 1: 188,734,124 (GRCm39) I39L possibly damaging Het
Lrit3 C A 3: 129,585,021 (GRCm39) V246L probably benign Het
Magi1 A G 6: 93,678,299 (GRCm39) I619T probably damaging Het
Map1b G T 13: 99,566,415 (GRCm39) P2102H unknown Het
Mcm10 G T 2: 5,005,814 (GRCm39) S440R probably damaging Het
Mtss2 CG CGG 8: 111,465,673 (GRCm39) probably null Het
Nlrp9a A G 7: 26,257,975 (GRCm39) N531S probably benign Het
Nrcam T A 12: 44,579,429 (GRCm39) D31E probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ogn A C 13: 49,762,775 (GRCm39) E39A possibly damaging Het
Or4g17 G A 2: 111,210,088 (GRCm39) V248I probably benign Het
Or52z14 A G 7: 103,253,470 (GRCm39) Y203C probably damaging Het
Or5b94 A T 19: 12,652,210 (GRCm39) I214L probably benign Het
Pramel20 A G 4: 143,298,839 (GRCm39) T261A probably benign Het
Rnf19a A T 15: 36,245,774 (GRCm39) D490E probably damaging Het
Spag5 T C 11: 78,212,355 (GRCm39) M1101T probably benign Het
Ulk4 A T 9: 120,997,265 (GRCm39) L769Q possibly damaging Het
Ythdc2 A G 18: 44,966,195 (GRCm39) S144G probably benign 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
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'- TGCTCTTGGGAGACAGAATGG -3'
(R):5'- AAGTGAGAAGAGCCCTGTGC -3'

Sequencing Primer
(F):5'- GACTCCTGGTCTCATGTAGCATG -3'
(R):5'- GTGCGCCTCTCATCCCAG -3'
Posted On 2015-04-29