Incidental Mutation 'R8011:Rgs6'
| ID |
616919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs6
|
| Ensembl Gene |
ENSMUSG00000021219 |
| Gene Name |
regulator of G-protein signaling 6 |
| Synonyms |
|
| MMRRC Submission |
046051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R8011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83163066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 424
(D424G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101234]
[ENSMUST00000185665]
[ENSMUST00000185674]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186323]
[ENSMUST00000186458]
[ENSMUST00000200911]
[ENSMUST00000186848]
[ENSMUST00000191107]
[ENSMUST00000191311]
[ENSMUST00000191352]
[ENSMUST00000202210]
|
| AlphaFold |
Q9Z2H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101234
AA Change: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: D424G
| 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: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: D424G
| 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 |
possibly damaging
Transcript: ENSMUST00000185674
AA Change: D387G
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: D387G
| 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: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: D424G
| 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: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: D424G
| 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 |
possibly damaging
Transcript: ENSMUST00000186323
AA Change: D387G
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: D387G
| 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: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: D424G
| 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: ENSMUST00000200911
AA Change: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: D424G
| 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: D389G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: D389G
| 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: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: D424G
| 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 |
possibly damaging
Transcript: ENSMUST00000191311
AA Change: D424G
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: D424G
| 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 |
possibly damaging
Transcript: ENSMUST00000191352
AA Change: D424G
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: D424G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202210
AA Change: D424G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: D424G
| 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 |
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
| Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
| Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
| Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
| Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
| Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
| Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
| Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
| Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
| Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
| Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
| Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly 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 |
|
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'- GAACCGTCTCTAGCAGTGTC -3'
(R):5'- GGATTTCACTGTACACTTACCTGG -3'
Sequencing Primer
(F):5'- CGTCTCTAGCAGTGTCCAAATAG -3'
(R):5'- CTGGCACAGTTTCTACTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation