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)
|
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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*
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |