Incidental Mutation 'R4089:Rgs6'
| ID |
317524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs6
|
| Ensembl Gene |
ENSMUSG00000021219 |
| Gene Name |
regulator of G-protein signaling 6 |
| Synonyms |
|
| MMRRC Submission |
040982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R4089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83110261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 175
(E175D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101234]
[ENSMUST00000161801]
[ENSMUST00000185665]
[ENSMUST00000185674]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186323]
[ENSMUST00000186848]
[ENSMUST00000186458]
[ENSMUST00000191311]
[ENSMUST00000191107]
[ENSMUST00000191352]
[ENSMUST00000200911]
[ENSMUST00000201271]
[ENSMUST00000202210]
|
| AlphaFold |
Q9Z2H2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101234
AA Change: E175D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: E175D
| 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 damaging
Transcript: ENSMUST00000161801
AA Change: E175D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: E175D
| 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 damaging
Transcript: ENSMUST00000185665
AA Change: E175D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: E175D
| 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: E175D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: E175D
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186081
AA Change: E175D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: E175D
| 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 damaging
Transcript: ENSMUST00000186309
AA Change: E175D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: E175D
| 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: E175D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: E175D
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186848
AA Change: E140D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: E140D
| 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 |
noncoding transcript
Transcript: ENSMUST00000187556
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186458
AA Change: E175D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: E175D
| 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 damaging
Transcript: ENSMUST00000191311
AA Change: E175D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: E175D
| 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: ENSMUST00000191107
AA Change: E175D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: E175D
| 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: ENSMUST00000191352
AA Change: E175D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: E175D
| 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: ENSMUST00000200911
AA Change: E175D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: E175D
| 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 damaging
Transcript: ENSMUST00000201271
AA Change: E175D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
AA Change: E175D
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.6e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202210
AA Change: E175D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: E175D
| 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 |
0.1019 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Actr5 |
T |
C |
2: 158,467,022 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
T |
A |
7: 100,533,006 (GRCm39) |
E1173V |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cap1 |
A |
G |
4: 122,756,202 (GRCm39) |
V398A |
probably benign |
Het |
| Cbs |
A |
C |
17: 31,851,980 (GRCm39) |
C8G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,114,323 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,820,883 (GRCm39) |
C1494S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,841 (GRCm39) |
D1687N |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,501,051 (GRCm39) |
L1327F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,802 (GRCm39) |
F1365S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,371,394 (GRCm39) |
E1169G |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm14443 |
T |
C |
2: 175,013,685 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,477,233 (GRCm39) |
|
probably null |
Het |
| Il31ra |
C |
T |
13: 112,688,453 (GRCm39) |
W41* |
probably null |
Het |
| Ints4 |
T |
A |
7: 97,178,462 (GRCm39) |
Y687* |
probably null |
Het |
| Jpt2 |
A |
G |
17: 25,175,076 (GRCm39) |
S37P |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,418,112 (GRCm39) |
V6A |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,810,520 (GRCm39) |
R797* |
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,586,840 (GRCm39) |
I612T |
possibly damaging |
Het |
| Mapk4 |
C |
A |
18: 74,063,530 (GRCm39) |
C564F |
probably damaging |
Het |
| Marveld2 |
T |
A |
13: 100,736,988 (GRCm39) |
H215L |
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,369,327 (GRCm39) |
M84V |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,639,929 (GRCm39) |
D182G |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Pkp3 |
G |
A |
7: 140,664,056 (GRCm39) |
R411H |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,891,134 (GRCm39) |
D366G |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,278,817 (GRCm39) |
M423T |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,299,174 (GRCm39) |
I623L |
probably benign |
Het |
| Rnf135 |
G |
A |
11: 80,089,872 (GRCm39) |
G403S |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,624,719 (GRCm39) |
|
probably null |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sox10 |
C |
T |
15: 79,040,563 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,403,029 (GRCm39) |
D533G |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,201,700 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Trip4 |
A |
G |
9: 65,765,565 (GRCm39) |
V378A |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
| Washc2 |
A |
T |
6: 116,233,253 (GRCm39) |
|
probably null |
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 |
|
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'- ACCCCGCTATTTTGATGAGAG -3'
(R):5'- ATGAAATTGTCCCAGCAAGACC -3'
Sequencing Primer
(F):5'- CCCCGCTATTTTGATGAGAGTAAAC -3'
(R):5'- AGACCTTGGTTCCAGACATG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation