Incidental Mutation 'R1545:Rgs6'
| ID |
172130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs6
|
| Ensembl Gene |
ENSMUSG00000021219 |
| Gene Name |
regulator of G-protein signaling 6 |
| Synonyms |
|
| MMRRC Submission |
039584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R1545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83162951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 386
(E386K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101234]
[ENSMUST00000185665]
[ENSMUST00000185674]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186323]
[ENSMUST00000186458]
[ENSMUST00000191352]
[ENSMUST00000191311]
[ENSMUST00000202210]
[ENSMUST00000200911]
[ENSMUST00000186848]
[ENSMUST00000191107]
|
| AlphaFold |
Q9Z2H2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101234
AA Change: E386K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: E386K
| 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: ENSMUST00000185665
AA Change: E386K
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: E386K
| 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 damaging
Transcript: ENSMUST00000185674
AA Change: E349K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: E349K
| 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
AA Change: E386K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: E386K
| 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
AA Change: E386K
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: E386K
| 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 damaging
Transcript: ENSMUST00000186323
AA Change: E349K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: E349K
| 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
AA Change: E386K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: E386K
| 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 |
possibly damaging
Transcript: ENSMUST00000201767
AA Change: E54K
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191352
AA Change: E386K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: E386K
| 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 damaging
Transcript: ENSMUST00000191311
AA Change: E386K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: E386K
| 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: ENSMUST00000202210
AA Change: E386K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: E386K
| 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: ENSMUST00000200911
AA Change: E386K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: E386K
| 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
AA Change: E351K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: E351K
| 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
AA Change: E386K
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: E386K
| 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 |
noncoding transcript
Transcript: ENSMUST00000201512
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,006,217 (GRCm39) |
M234K |
probably benign |
Het |
| Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
| Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
| Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,250,146 (GRCm39) |
I168F |
probably damaging |
Het |
| Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
| Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
| Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
| Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,061,876 (GRCm39) |
R792C |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
| Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
| Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
| Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
| Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
| Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
| Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
| Sult1c2 |
G |
T |
17: 54,269,176 (GRCm39) |
A280E |
possibly damaging |
Het |
| Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
| Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
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 |
|
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 |
|
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'- ACTCAGAGGGAAGAGGACATCTTGC -3'
(R):5'- CCTGGCACAGTTTCTACTGACTGAC -3'
Sequencing Primer
(F):5'- ACTTTTAGCAGTCCTGTGGAAC -3'
(R):5'- GTGAAAGCTGATGGTCAAACTACTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation