Incidental Mutation 'R8081:Rgs6'
ID 629365
Institutional Source Beutler Lab
Gene Symbol Rgs6
Ensembl Gene ENSMUSG00000021219
Gene Name regulator of G-protein signaling 6
Synonyms
MMRRC Submission 067514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R8081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 82663325-83208835 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 83094347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 67 (Q67*)
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] [ENSMUST00000200861] [ENSMUST00000200911] [ENSMUST00000201271] [ENSMUST00000201602] [ENSMUST00000201861] [ENSMUST00000202210]
AlphaFold Q9Z2H2
Predicted Effect probably null
Transcript: ENSMUST00000101234
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000161801
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: Q67*

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 probably null
Transcript: ENSMUST00000185665
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000185674
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: Q67*

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
Predicted Effect probably null
Transcript: ENSMUST00000186081
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: Q67*

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 probably null
Transcript: ENSMUST00000186309
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000186323
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: Q67*

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
Predicted Effect probably null
Transcript: ENSMUST00000186458
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000186848
AA Change: Q32*
SMART Domains Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: Q32*

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 probably null
Transcript: ENSMUST00000191107
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000191311
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000191352
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000200861
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000144118
Gene: ENSMUSG00000021219
AA Change: Q67*

DomainStartEndE-ValueType
DEP 40 109 3.2e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200911
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: Q67*

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 null
Transcript: ENSMUST00000201271
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
AA Change: Q67*

DomainStartEndE-ValueType
DEP 40 115 1.6e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000201602
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000144044
Gene: ENSMUSG00000021219
AA Change: Q67*

DomainStartEndE-ValueType
Pfam:DEP 43 73 1.1e-5 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000201861
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000144395
Gene: ENSMUSG00000021219
AA Change: Q67*

DomainStartEndE-ValueType
Pfam:DEP 43 88 5.2e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000202210
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: Q67*

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 95.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,313 (GRCm39) E119V probably damaging Het
Adamts2 A T 11: 50,668,004 (GRCm39) D522V probably damaging Het
Agtpbp1 A T 13: 59,676,221 (GRCm39) L183* probably null Het
Arhgap10 T C 8: 78,109,375 (GRCm39) I403V possibly damaging Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Cdhr1 C T 14: 36,815,967 (GRCm39) V144I probably benign Het
Cdk20 A G 13: 64,586,766 (GRCm39) I339V probably benign Het
Ceacam13 A G 7: 17,747,113 (GRCm39) K189E probably damaging Het
Cep290 C T 10: 100,394,038 (GRCm39) Q2082* probably null Het
Cgrrf1 A G 14: 47,091,468 (GRCm39) T331A probably benign Het
Cntn4 G A 6: 106,651,568 (GRCm39) V706I possibly damaging Het
Csrnp2 T C 15: 100,387,462 (GRCm39) D2G probably damaging Het
Cux2 A G 5: 122,007,519 (GRCm39) I714T probably benign Het
Cx3cr1 C T 9: 119,880,878 (GRCm39) E175K possibly damaging Het
Dennd1c G A 17: 57,381,139 (GRCm39) P163L possibly damaging Het
Dhtkd1 C T 2: 5,928,919 (GRCm39) E251K probably damaging Het
Epas1 C T 17: 87,136,797 (GRCm39) P787S probably benign Het
Epha2 T C 4: 141,049,605 (GRCm39) V737A probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcsk T A 8: 111,615,783 (GRCm39) R515S probably benign Het
Fscb A T 12: 64,518,802 (GRCm39) M888K unknown Het
Gldc ACGACC AC 19: 30,135,987 (GRCm39) probably null Het
Gm14443 A T 2: 175,012,238 (GRCm39) C69* probably null Het
Gm19668 G A 10: 77,634,420 (GRCm39) A183V unknown Het
Gm49368 A G 7: 127,726,280 (GRCm39) R1231G unknown Het
Grin2c T C 11: 115,140,719 (GRCm39) Y1133C probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hydin T C 8: 111,092,101 (GRCm39) S425P possibly damaging Het
Ifnl3 T C 7: 28,223,682 (GRCm39) S173P probably damaging Het
Igkv4-63 A T 6: 69,355,018 (GRCm39) S88T possibly damaging Het
Klhl5 C A 5: 65,320,268 (GRCm39) N607K possibly damaging Het
Lag3 A T 6: 124,882,410 (GRCm39) L362* probably null Het
Lats2 C A 14: 57,937,968 (GRCm39) G174C probably damaging Het
Mcm6 T C 1: 128,265,905 (GRCm39) E622G probably damaging Het
Med13l C A 5: 118,866,333 (GRCm39) H462Q probably damaging Het
Mrpl53 T A 6: 83,086,159 (GRCm39) F23I probably damaging Het
Muc5b T G 7: 141,417,743 (GRCm39) I3563S possibly damaging Het
Myo16 A C 8: 10,372,743 (GRCm39) L147F unknown Het
Npc1l1 G C 11: 6,167,768 (GRCm39) Q1008E probably benign Het
Npy4r A G 14: 33,868,524 (GRCm39) S255P probably damaging Het
Nup210 T C 6: 91,053,657 (GRCm39) N287D probably benign Het
Opn3 T A 1: 175,493,135 (GRCm39) H143L probably damaging Het
Or12e7 G T 2: 87,287,513 (GRCm39) M1I probably null Het
Or12j3 A T 7: 139,952,972 (GRCm39) L184M probably damaging Het
Or12j5 A T 7: 140,084,369 (GRCm39) M1K probably null Het
Or4k2 T A 14: 50,423,825 (GRCm39) N284I probably damaging Het
Or5ap2b-ps1 C T 2: 85,693,839 (GRCm39) P28L probably damaging Het
Pdcd7 C T 9: 65,253,967 (GRCm39) R182C probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Picalm T A 7: 89,840,451 (GRCm39) L540* probably null Het
Ppp1r21 T A 17: 88,866,272 (GRCm39) I356N probably damaging Het
Ripor2 C A 13: 24,897,683 (GRCm39) Q794K probably benign Het
Rnf216 A T 5: 143,013,719 (GRCm39) I702N probably damaging Het
Robo4 T C 9: 37,316,936 (GRCm39) L417P probably damaging Het
Samhd1 A T 2: 156,943,358 (GRCm39) C605* probably null Het
Scaper C T 9: 55,823,330 (GRCm39) G22D unknown Het
Senp5 T C 16: 31,784,577 (GRCm39) T692A probably damaging Het
Six6 G T 12: 72,986,875 (GRCm39) G16W probably damaging Het
Slc38a8 A T 8: 120,212,269 (GRCm39) M358K possibly damaging Het
Snx2 T C 18: 53,349,459 (GRCm39) F407L probably benign Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
Syk A T 13: 52,792,195 (GRCm39) M429L probably benign Het
Tln2 T A 9: 67,264,029 (GRCm39) N537Y probably damaging Het
Usp29 T A 7: 6,966,629 (GRCm39) M824K probably benign Het
Utrn A G 10: 12,423,803 (GRCm39) probably benign Het
Wdr37 C T 13: 8,885,406 (GRCm39) D346N probably damaging Het
Zfpm2 T A 15: 40,965,644 (GRCm39) C710S probably damaging Het
Other mutations in Rgs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Rgs6 APN 12 83,098,097 (GRCm39) missense probably benign 0.01
IGL02131:Rgs6 APN 12 83,116,269 (GRCm39) missense probably damaging 1.00
IGL02354:Rgs6 APN 12 82,665,393 (GRCm39) intron probably benign
IGL02361:Rgs6 APN 12 82,665,393 (GRCm39) intron probably benign
IGL02568:Rgs6 APN 12 83,117,376 (GRCm39) missense probably benign 0.25
IGL02598:Rgs6 APN 12 83,138,571 (GRCm39) missense probably benign 0.02
IGL03146:Rgs6 APN 12 83,099,312 (GRCm39) missense probably damaging 1.00
IGL03248:Rgs6 APN 12 83,099,324 (GRCm39) splice site probably benign
IGL03098:Rgs6 UTSW 12 83,032,150 (GRCm39) missense probably damaging 1.00
IGL03147:Rgs6 UTSW 12 83,138,620 (GRCm39) missense probably damaging 0.99
PIT4453001:Rgs6 UTSW 12 83,138,553 (GRCm39) missense probably damaging 1.00
R0270:Rgs6 UTSW 12 83,180,463 (GRCm39) missense probably damaging 1.00
R0390:Rgs6 UTSW 12 83,180,451 (GRCm39) missense probably damaging 1.00
R0540:Rgs6 UTSW 12 83,106,578 (GRCm39) nonsense probably null
R0630:Rgs6 UTSW 12 83,094,324 (GRCm39) splice site probably benign
R1479:Rgs6 UTSW 12 83,163,018 (GRCm39) missense probably damaging 1.00
R1533:Rgs6 UTSW 12 83,138,547 (GRCm39) missense probably benign 0.00
R1545:Rgs6 UTSW 12 83,162,951 (GRCm39) missense probably damaging 0.99
R2161:Rgs6 UTSW 12 83,138,578 (GRCm39) missense probably damaging 1.00
R2421:Rgs6 UTSW 12 83,163,057 (GRCm39) missense possibly damaging 0.93
R4089:Rgs6 UTSW 12 83,110,261 (GRCm39) missense probably damaging 1.00
R4573:Rgs6 UTSW 12 83,112,789 (GRCm39) missense probably damaging 1.00
R4821:Rgs6 UTSW 12 83,114,185 (GRCm39) critical splice acceptor site probably null
R6228:Rgs6 UTSW 12 83,112,738 (GRCm39) missense probably damaging 0.99
R7023:Rgs6 UTSW 12 83,138,878 (GRCm39) intron probably benign
R7585:Rgs6 UTSW 12 83,153,644 (GRCm39) missense probably damaging 1.00
R7610:Rgs6 UTSW 12 83,138,553 (GRCm39) missense probably damaging 1.00
R7798:Rgs6 UTSW 12 83,116,293 (GRCm39) missense probably benign 0.02
R8003:Rgs6 UTSW 12 83,032,144 (GRCm39) missense probably damaging 0.99
R8011:Rgs6 UTSW 12 83,163,066 (GRCm39) missense probably null 0.32
R8248:Rgs6 UTSW 12 83,184,478 (GRCm39) intron probably benign
R8267:Rgs6 UTSW 12 82,698,669 (GRCm39) missense probably benign
R8285:Rgs6 UTSW 12 83,162,949 (GRCm39) missense probably benign 0.14
R8932:Rgs6 UTSW 12 83,112,733 (GRCm39) missense probably damaging 1.00
R9398:Rgs6 UTSW 12 82,698,615 (GRCm39) missense probably benign 0.09
R9415:Rgs6 UTSW 12 83,184,166 (GRCm39) missense probably benign 0.06
RF008:Rgs6 UTSW 12 83,110,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCCAGTGGATAGGAAAGGC -3'
(R):5'- GTGGAGAAAATGAACGACTTCTATC -3'

Sequencing Primer
(F):5'- CAGTGGATAGGAAAGGCTGGGTAC -3'
(R):5'- CTTCTATCTGCAAATACAATGATCCC -3'
Posted On 2020-06-30