Incidental Mutation 'R3029:Rgs20'
| ID |
265894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs20
|
| Ensembl Gene |
ENSMUSG00000002459 |
| Gene Name |
regulator of G-protein signaling 20 |
| Synonyms |
Rgsz1, 2900073E09Rik |
| MMRRC Submission |
040545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3029 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
4979799-5140508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5140276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 42
(D42G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118000]
[ENSMUST00000147158]
[ENSMUST00000192847]
|
| AlphaFold |
Q9QZB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118000
AA Change: D42G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
RGS
|
246 |
362 |
2.09e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147158
AA Change: D42G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
146 |
200 |
2.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192847
|
| SMART Domains |
Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_H_N
|
17 |
342 |
1e-102 |
PFAM |
|
Pfam:V-ATPase_H_C
|
332 |
423 |
2.7e-25 |
PFAM |
|
Pfam:Arm_2
|
339 |
427 |
4.6e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
| Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
| Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
| E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
| Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
| Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
| Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
probably damaging |
Het |
|
| Other mutations in Rgs20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Rgs20
|
APN |
1 |
5,140,238 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01433:Rgs20
|
APN |
1 |
5,140,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01691:Rgs20
|
APN |
1 |
4,987,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0573:Rgs20
|
UTSW |
1 |
5,091,037 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1274:Rgs20
|
UTSW |
1 |
4,982,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1305:Rgs20
|
UTSW |
1 |
5,091,262 (GRCm39) |
splice site |
probably null |
|
|
R1513:Rgs20
|
UTSW |
1 |
4,982,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Rgs20
|
UTSW |
1 |
5,091,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1763:Rgs20
|
UTSW |
1 |
4,980,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Rgs20
|
UTSW |
1 |
4,980,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Rgs20
|
UTSW |
1 |
4,987,113 (GRCm39) |
splice site |
probably benign |
|
|
R2437:Rgs20
|
UTSW |
1 |
5,140,370 (GRCm39) |
splice site |
probably null |
|
|
R4665:Rgs20
|
UTSW |
1 |
5,091,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5014:Rgs20
|
UTSW |
1 |
4,980,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Rgs20
|
UTSW |
1 |
5,140,333 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5620:Rgs20
|
UTSW |
1 |
4,982,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5880:Rgs20
|
UTSW |
1 |
4,994,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5990:Rgs20
|
UTSW |
1 |
4,982,553 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6188:Rgs20
|
UTSW |
1 |
5,091,106 (GRCm39) |
frame shift |
probably null |
|
|
R7323:Rgs20
|
UTSW |
1 |
4,982,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7459:Rgs20
|
UTSW |
1 |
4,980,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7467:Rgs20
|
UTSW |
1 |
4,982,553 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8101:Rgs20
|
UTSW |
1 |
4,982,638 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9087:Rgs20
|
UTSW |
1 |
4,994,190 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9193:Rgs20
|
UTSW |
1 |
5,091,067 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9443:Rgs20
|
UTSW |
1 |
4,982,629 (GRCm39) |
nonsense |
probably null |
|
|
R9725:Rgs20
|
UTSW |
1 |
4,980,793 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Rgs20
|
UTSW |
1 |
5,140,337 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Rgs20
|
UTSW |
1 |
5,091,242 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTGTTTAGAATGGAGAAAACTG -3'
(R):5'- AGAGGATCTACAGGTATTGGTAAAACC -3'
Sequencing Primer
(F):5'- GTTTAGAATGGAGAAAACTGGATTCC -3'
(R):5'- ACCAGATGACACTATTCCTGTGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation