Incidental Mutation 'R7023:Rgs6'
ID |
545797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs6
|
Ensembl Gene |
ENSMUSG00000021219 |
Gene Name |
regulator of G-protein signaling 6 |
Synonyms |
|
MMRRC Submission |
045124-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R7023 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 83138878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101234]
[ENSMUST00000161801]
[ENSMUST00000185665]
[ENSMUST00000185674]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186323]
[ENSMUST00000186458]
[ENSMUST00000186848]
[ENSMUST00000191107]
[ENSMUST00000191311]
[ENSMUST00000191352]
[ENSMUST00000200911]
[ENSMUST00000202210]
|
AlphaFold |
Q9Z2H2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101234
|
SMART Domains |
Protein: ENSMUSP00000098793 Gene: ENSMUSG00000021219
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 |
unknown
Transcript: ENSMUST00000161801
AA Change: L345H
|
SMART Domains |
Protein: ENSMUSP00000125256 Gene: ENSMUSG00000021219 AA Change: L345H
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 benign
Transcript: ENSMUST00000185665
|
SMART Domains |
Protein: ENSMUSP00000139566 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000185674
|
SMART Domains |
Protein: ENSMUSP00000139940 Gene: ENSMUSG00000021219
Domain | Start | End | E-Value | Type |
DEP
|
40 |
115 |
1.5e-26 |
SMART |
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186081
|
SMART Domains |
Protein: ENSMUSP00000140188 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000186309
|
SMART Domains |
Protein: ENSMUSP00000140701 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000186323
|
SMART Domains |
Protein: ENSMUSP00000141079 Gene: ENSMUSG00000021219
Domain | Start | End | E-Value | Type |
DEP
|
40 |
115 |
1.5e-26 |
SMART |
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186458
|
SMART Domains |
Protein: ENSMUSP00000139735 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000186848
|
SMART Domains |
Protein: ENSMUSP00000141044 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000191107
|
SMART Domains |
Protein: ENSMUSP00000139725 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000191311
|
SMART Domains |
Protein: ENSMUSP00000140723 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000191352
|
SMART Domains |
Protein: ENSMUSP00000139718 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000200911
|
SMART Domains |
Protein: ENSMUSP00000143801 Gene: ENSMUSG00000021219
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 benign
Transcript: ENSMUST00000202210
|
SMART Domains |
Protein: ENSMUSP00000143961 Gene: ENSMUSG00000021219
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,610,443 (GRCm39) |
H372R |
probably benign |
Het |
4933405O20Rik |
T |
C |
7: 50,250,001 (GRCm39) |
I345T |
probably damaging |
Het |
4933427D14Rik |
A |
G |
11: 72,069,229 (GRCm39) |
|
probably null |
Het |
6430548M08Rik |
T |
C |
8: 120,872,096 (GRCm39) |
V8A |
probably damaging |
Het |
Adam2 |
A |
T |
14: 66,280,505 (GRCm39) |
D501E |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,791,704 (GRCm39) |
V602A |
probably benign |
Het |
Akap12 |
T |
C |
10: 4,306,895 (GRCm39) |
M1235T |
probably benign |
Het |
Arid5a |
G |
A |
1: 36,356,631 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
A |
2: 153,242,469 (GRCm39) |
D1006E |
probably benign |
Het |
AY074887 |
T |
C |
9: 54,858,149 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
T |
A |
17: 30,746,546 (GRCm39) |
R93S |
probably benign |
Het |
Cabp2 |
A |
T |
19: 4,132,658 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,601,439 (GRCm39) |
D76G |
probably null |
Het |
Cd177 |
A |
G |
7: 24,459,187 (GRCm39) |
I74T |
probably benign |
Het |
Chchd1 |
G |
A |
14: 20,753,310 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,083,763 (GRCm39) |
R565G |
possibly damaging |
Het |
Cpvl |
T |
A |
6: 53,944,797 (GRCm39) |
I80F |
probably benign |
Het |
Csgalnact1 |
T |
C |
8: 68,811,081 (GRCm39) |
T530A |
probably benign |
Het |
Cybrd1 |
A |
G |
2: 70,968,922 (GRCm39) |
D265G |
probably benign |
Het |
Cyp2c69 |
A |
T |
19: 39,865,986 (GRCm39) |
N202K |
probably benign |
Het |
D1Pas1 |
A |
G |
1: 186,700,205 (GRCm39) |
N45D |
probably damaging |
Het |
Dclre1a |
A |
G |
19: 56,528,638 (GRCm39) |
V839A |
probably damaging |
Het |
Degs1 |
A |
T |
1: 182,106,630 (GRCm39) |
Y210N |
probably damaging |
Het |
Doc2g |
A |
G |
19: 4,054,778 (GRCm39) |
S220G |
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,388,875 (GRCm39) |
L885Q |
probably damaging |
Het |
Fabp1 |
A |
T |
6: 71,180,069 (GRCm39) |
|
probably null |
Het |
Fat2 |
G |
A |
11: 55,201,328 (GRCm39) |
S582L |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,463 (GRCm39) |
C425* |
probably null |
Het |
Fras1 |
A |
G |
5: 96,857,943 (GRCm39) |
N2079S |
probably benign |
Het |
Gdf6 |
T |
C |
4: 9,860,210 (GRCm39) |
Y431H |
probably damaging |
Het |
Gfra1 |
A |
T |
19: 58,442,764 (GRCm39) |
L6Q |
probably damaging |
Het |
Gm45861 |
T |
G |
8: 28,071,034 (GRCm39) |
S1305A |
unknown |
Het |
Gse1 |
T |
C |
8: 120,957,387 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,705,485 (GRCm39) |
H1303R |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,442,658 (GRCm39) |
D499G |
possibly damaging |
Het |
Lepr |
A |
T |
4: 101,646,484 (GRCm39) |
Y805F |
probably damaging |
Het |
Lin7a |
A |
T |
10: 107,218,489 (GRCm39) |
Y11F |
possibly damaging |
Het |
Lrrc43 |
A |
G |
5: 123,641,826 (GRCm39) |
K559E |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,338,602 (GRCm39) |
L467P |
possibly damaging |
Het |
Mprip |
G |
A |
11: 59,628,215 (GRCm39) |
G221R |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,208,738 (GRCm39) |
V1683A |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,467,686 (GRCm39) |
R501W |
probably damaging |
Het |
Ncf1 |
G |
T |
5: 134,254,116 (GRCm39) |
A219E |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,384,493 (GRCm39) |
I616T |
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,331,228 (GRCm39) |
C389* |
probably null |
Het |
Nrg3 |
T |
C |
14: 38,098,333 (GRCm39) |
E507G |
probably damaging |
Het |
Or4p19 |
A |
G |
2: 88,242,759 (GRCm39) |
L81P |
probably damaging |
Het |
P4ha2 |
A |
T |
11: 54,022,072 (GRCm39) |
T532S |
probably benign |
Het |
Pappa |
A |
T |
4: 65,269,955 (GRCm39) |
H1623L |
probably benign |
Het |
Paqr6 |
A |
G |
3: 88,273,353 (GRCm39) |
Y115C |
probably damaging |
Het |
Pcolce2 |
A |
T |
9: 95,560,521 (GRCm39) |
Q190L |
probably benign |
Het |
Poll |
A |
G |
19: 45,547,277 (GRCm39) |
I65T |
probably benign |
Het |
Prmt9 |
T |
C |
8: 78,276,086 (GRCm39) |
|
probably benign |
Het |
Prpf39 |
T |
C |
12: 65,100,074 (GRCm39) |
V130A |
possibly damaging |
Het |
Prpf6 |
A |
G |
2: 181,262,433 (GRCm39) |
D144G |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,879,847 (GRCm39) |
|
probably null |
Het |
Ripor2 |
A |
G |
13: 24,855,829 (GRCm39) |
T90A |
probably benign |
Het |
Rnf150 |
T |
C |
8: 83,590,706 (GRCm39) |
F23S |
probably damaging |
Het |
Rpp40 |
G |
A |
13: 36,082,889 (GRCm39) |
R200W |
possibly damaging |
Het |
Rtp3 |
G |
A |
9: 110,815,714 (GRCm39) |
S217L |
probably benign |
Het |
Sacs |
A |
C |
14: 61,446,264 (GRCm39) |
K2770T |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,442,610 (GRCm39) |
I1545N |
probably damaging |
Het |
Scn2b |
G |
T |
9: 45,037,438 (GRCm39) |
V162L |
probably damaging |
Het |
Sema6d |
A |
G |
2: 124,506,831 (GRCm39) |
T880A |
probably damaging |
Het |
Slc36a4 |
A |
G |
9: 15,630,929 (GRCm39) |
D16G |
probably benign |
Het |
Slc4a8 |
T |
A |
15: 100,689,524 (GRCm39) |
I378K |
probably benign |
Het |
Smco2 |
T |
A |
6: 146,760,354 (GRCm39) |
L70* |
probably null |
Het |
Sptb |
C |
T |
12: 76,671,862 (GRCm39) |
V364I |
probably damaging |
Het |
Susd4 |
A |
G |
1: 182,592,613 (GRCm39) |
H3R |
probably damaging |
Het |
Tbc1d16 |
T |
C |
11: 119,049,617 (GRCm39) |
Q293R |
probably damaging |
Het |
Tnfsf9 |
T |
A |
17: 57,414,317 (GRCm39) |
M248K |
possibly damaging |
Het |
Toporsl |
A |
G |
4: 52,611,211 (GRCm39) |
N368S |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,852,126 (GRCm39) |
E361G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,728,964 (GRCm39) |
M626K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,773,218 (GRCm39) |
S2395T |
probably damaging |
Het |
Ubqln3 |
T |
C |
7: 103,790,630 (GRCm39) |
R487G |
probably damaging |
Het |
Vdac1 |
A |
G |
11: 52,265,193 (GRCm39) |
Y22C |
probably damaging |
Het |
Vmn1r59 |
C |
T |
7: 5,457,477 (GRCm39) |
M94I |
probably benign |
Het |
Vmn2r10 |
G |
T |
5: 109,149,894 (GRCm39) |
D383E |
probably damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,578,785 (GRCm39) |
Y753H |
probably damaging |
Het |
Vmn2r97 |
G |
T |
17: 19,134,663 (GRCm39) |
C27F |
probably damaging |
Het |
Wasf1 |
T |
A |
10: 40,812,471 (GRCm39) |
V420E |
unknown |
Het |
Zfp94 |
A |
T |
7: 24,002,821 (GRCm39) |
L201Q |
probably damaging |
Het |
Zgpat |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
2: 181,007,811 (GRCm39) |
|
probably benign |
Het |
Zmym4 |
C |
A |
4: 126,762,593 (GRCm39) |
R1410L |
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 |
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 |
R8081:Rgs6
|
UTSW |
12 |
83,094,347 (GRCm39) |
nonsense |
probably null |
|
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'- GGATCAGCGATGACATCACC -3'
(R):5'- CCTAGATGAAGTTCTTCAACCATCG -3'
Sequencing Primer
(F):5'- TCAGCGATGACATCACCTTATGGG -3'
(R):5'- CGTTGTTAAATCAGCTTGTACCAGC -3'
|
Posted On |
2019-05-13 |