Incidental Mutation 'IGL02131:Rgs6'
ID281188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs6
Ensembl Gene ENSMUSG00000021219
Gene Nameregulator of G-protein signaling 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL02131
Quality Score
Status
Chromosome12
Chromosomal Location82588292-83162056 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83069495 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 232 (S232P)
Ref Sequence ENSEMBL: ENSMUSP00000125256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101234] [ENSMUST00000161801] [ENSMUST00000185665] [ENSMUST00000185674] [ENSMUST00000186081] [ENSMUST00000186309] [ENSMUST00000186323] [ENSMUST00000186458] [ENSMUST00000186848] [ENSMUST00000191107] [ENSMUST00000191311] [ENSMUST00000191352] [ENSMUST00000200911] [ENSMUST00000201271] [ENSMUST00000202210]
Predicted Effect probably damaging
Transcript: ENSMUST00000101234
AA Change: S232P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161801
AA Change: S232P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185665
AA Change: S232P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185674
AA Change: S232P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186081
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
low complexity region 417 425 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186309
AA Change: S232P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
low complexity region 494 499 N/A INTRINSIC
low complexity region 511 523 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186323
AA Change: S232P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186458
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186848
AA Change: S197P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: S197P

DomainStartEndE-ValueType
DEP 5 80 1.6e-26 SMART
G_gamma 220 284 1.1e-27 SMART
GGL 223 284 8.8e-30 SMART
RGS 301 416 7.6e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187556
Predicted Effect probably damaging
Transcript: ENSMUST00000191107
AA Change: S232P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191311
AA Change: S232P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191352
AA Change: S232P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200911
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201271
SMART Domains Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219

DomainStartEndE-ValueType
DEP 40 115 1.6e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202210
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: S232P

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP (Dishevelled, Egl-10, and Pleckstrin) and GGL (G-protein gamma like)domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Mice lacking this gene exhibit decreased heart rate. Alternative splicing results in multiple transcript variants, however, the full-length nature of some of these variants is not known. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,627,655 probably benign Het
Adamts19 A G 18: 59,052,660 Y1202C probably damaging Het
Adgrf1 T A 17: 43,303,747 F241I probably damaging Het
Ankrd11 A T 8: 122,894,410 I901N probably damaging Het
Anxa8 A T 14: 34,090,631 D46V possibly damaging Het
Ap4e1 A G 2: 127,061,929 Y917C probably benign Het
Arhgap40 G A 2: 158,531,939 probably null Het
Dnah17 A G 11: 118,072,908 V2513A probably damaging Het
Dnhd1 T C 7: 105,720,802 L4478P probably damaging Het
Dtx3 T C 10: 127,193,279 D30G probably damaging Het
Fat2 A G 11: 55,309,042 Y1069H probably damaging Het
Fbxo21 T A 5: 118,002,090 N538K possibly damaging Het
Frem1 T C 4: 82,924,854 T1748A probably benign Het
Kcnh6 T C 11: 106,020,175 Y466H probably damaging Het
Kif2c G A 4: 117,177,953 S41L possibly damaging Het
Kir3dl2 T A X: 136,457,713 H52L possibly damaging Het
Mageb18 A G X: 92,120,049 C196R possibly damaging Het
Mrpl9 T A 3: 94,444,713 probably null Het
Nt5c1b A G 12: 10,375,491 I345V possibly damaging Het
Olfr137 T A 17: 38,304,648 H271L probably benign Het
Olfr251 A G 9: 38,377,907 T9A probably benign Het
Olfr517 T C 7: 108,868,208 *315W probably null Het
Parp8 T C 13: 116,910,873 N221S probably benign Het
Plbd1 T C 6: 136,661,683 probably benign Het
Recql5 C A 11: 115,923,242 W86L probably benign Het
Rnf182 A G 13: 43,668,342 H123R probably benign Het
Rtf2 A G 2: 172,466,292 T204A unknown Het
Sema4d T C 13: 51,702,937 probably null Het
Sept8 T C 11: 53,537,857 S408P possibly damaging Het
Serpini1 A G 3: 75,640,704 N396D probably benign Het
Slc26a2 A C 18: 61,198,812 F516V possibly damaging Het
Tcf4 A G 18: 69,564,626 probably benign Het
Trrap G T 5: 144,840,436 G3045W probably damaging Het
Tspo2 T A 17: 48,449,061 T91S possibly damaging Het
Ttn T C 2: 76,737,614 D27645G probably damaging Het
Uba6 G T 5: 86,150,077 T246K probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wwp2 T A 8: 107,552,318 M136K probably damaging Het
Zranb3 A T 1: 127,992,951 V412D probably damaging Het
Other mutations in Rgs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Rgs6 APN 12 83051323 missense probably benign 0.01
IGL02354:Rgs6 APN 12 82618619 intron probably benign
IGL02361:Rgs6 APN 12 82618619 intron probably benign
IGL02568:Rgs6 APN 12 83070602 missense probably benign 0.25
IGL02598:Rgs6 APN 12 83091797 missense probably benign 0.02
IGL03146:Rgs6 APN 12 83052538 missense probably damaging 1.00
IGL03248:Rgs6 APN 12 83052550 splice site probably benign
IGL03098:Rgs6 UTSW 12 82985376 missense probably damaging 1.00
IGL03147:Rgs6 UTSW 12 83091846 missense probably damaging 0.99
PIT4453001:Rgs6 UTSW 12 83091779 missense probably damaging 1.00
R0270:Rgs6 UTSW 12 83133689 missense probably damaging 1.00
R0390:Rgs6 UTSW 12 83133677 missense probably damaging 1.00
R0540:Rgs6 UTSW 12 83059804 nonsense probably null
R0630:Rgs6 UTSW 12 83047550 splice site probably benign
R1479:Rgs6 UTSW 12 83116244 missense probably damaging 1.00
R1533:Rgs6 UTSW 12 83091773 missense probably benign 0.00
R1545:Rgs6 UTSW 12 83116177 missense probably damaging 0.99
R2161:Rgs6 UTSW 12 83091804 missense probably damaging 1.00
R2421:Rgs6 UTSW 12 83116283 missense possibly damaging 0.93
R4089:Rgs6 UTSW 12 83063487 missense probably damaging 1.00
R4573:Rgs6 UTSW 12 83066015 missense probably damaging 1.00
R4821:Rgs6 UTSW 12 83067411 critical splice acceptor site probably null
R6228:Rgs6 UTSW 12 83065964 missense probably damaging 0.99
R7023:Rgs6 UTSW 12 83092104 intron probably benign
R7585:Rgs6 UTSW 12 83106870 missense probably damaging 1.00
R7610:Rgs6 UTSW 12 83091779 missense probably damaging 1.00
R7798:Rgs6 UTSW 12 83069519 missense probably benign 0.02
RF008:Rgs6 UTSW 12 83063449 missense probably damaging 1.00
Posted On2015-04-16