Incidental Mutation 'IGL00916:Rgs2'
ID26630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs2
Ensembl Gene ENSMUSG00000026360
Gene Nameregulator of G-protein signaling 2
SynonymsGOS8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL00916
Quality Score
Status
Chromosome1
Chromosomal Location143999338-144004161 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 144002229 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 78 (I78F)
Ref Sequence ENSEMBL: ENSMUSP00000140548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027606] [ENSMUST00000127206] [ENSMUST00000153527]
Predicted Effect probably benign
Transcript: ENSMUST00000027606
Predicted Effect probably damaging
Transcript: ENSMUST00000127206
AA Change: I110F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115558
Gene: ENSMUSG00000026360
AA Change: I110F

DomainStartEndE-ValueType
RGS 83 199 4.5e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134817
Predicted Effect probably damaging
Transcript: ENSMUST00000153527
AA Change: I78F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140548
Gene: ENSMUSG00000026360
AA Change: I78F

DomainStartEndE-ValueType
RGS 51 130 1.6e-11 SMART
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Ano4 T C 10: 88,998,098 I459V probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Eapp T C 12: 54,692,808 T75A possibly damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mreg T A 1: 72,164,132 T96S probably benign Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Ndufa13 A G 8: 69,894,419 probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tfcp2 T G 15: 100,520,678 H201P probably damaging Het
Tnfaip2 T G 12: 111,453,549 I705R probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Rgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0189:Rgs2 UTSW 1 144002284 critical splice acceptor site probably null
R0866:Rgs2 UTSW 1 144002250 missense probably damaging 1.00
R2041:Rgs2 UTSW 1 144002222 missense probably damaging 1.00
R4005:Rgs2 UTSW 1 144001868 missense probably benign 0.01
R4654:Rgs2 UTSW 1 144002912 intron probably benign
R5144:Rgs2 UTSW 1 144001699 missense probably benign 0.00
R6125:Rgs2 UTSW 1 144004025 missense probably damaging 1.00
R7180:Rgs2 UTSW 1 144002148 missense probably benign 0.04
Posted On2013-04-17