Incidental Mutation 'R5880:Rgs20'
| ID |
454364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs20
|
| Ensembl Gene |
ENSMUSG00000002459 |
| Gene Name |
regulator of G-protein signaling 20 |
| Synonyms |
Rgsz1, 2900073E09Rik |
| MMRRC Submission |
043235-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5880 (G1)
|
| Quality Score |
93 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
4979799-5140508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4994104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 93
(C93S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002533]
[ENSMUST00000118000]
[ENSMUST00000119256]
[ENSMUST00000147158]
[ENSMUST00000170566]
|
| AlphaFold |
Q9QZB1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002533
AA Change: C60S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002533
Gene: ENSMUSG00000002459
AA Change: C60S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
RGS
|
113 |
229 |
2.09e-48 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118000
AA Change: C193S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: C193S
| 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 |
possibly damaging
Transcript: ENSMUST00000119256
AA Change: C29S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113324
Gene: ENSMUSG00000002459
AA Change: C29S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
RGS
|
82 |
198 |
2.09e-48 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147158
AA Change: C93S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: C93S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
146 |
200 |
2.8e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170566
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 93.4%
- 20x: 74.5%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
G |
A |
18: 74,937,072 (GRCm39) |
V319M |
probably damaging |
Het |
| Actrt2 |
T |
A |
4: 154,751,747 (GRCm39) |
T130S |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,340,157 (GRCm39) |
S392P |
probably damaging |
Het |
| Cby2 |
C |
T |
14: 75,821,243 (GRCm39) |
V119I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,220,713 (GRCm39) |
N1344Y |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,918 (GRCm39) |
H469Q |
possibly damaging |
Het |
| Dhodh |
T |
A |
8: 110,321,409 (GRCm39) |
T326S |
probably benign |
Het |
| Ebf3 |
T |
G |
7: 136,800,367 (GRCm39) |
N529T |
probably benign |
Het |
| Echdc2 |
A |
C |
4: 108,030,097 (GRCm39) |
I133L |
possibly damaging |
Het |
| Fbn2 |
A |
T |
18: 58,156,354 (GRCm39) |
C2488* |
probably null |
Het |
| Fndc3b |
T |
A |
3: 27,483,052 (GRCm39) |
T1049S |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,252 (GRCm39) |
Y643C |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,735,426 (GRCm39) |
*104W |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,024,509 (GRCm39) |
S628R |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,231,826 (GRCm39) |
V1215M |
probably benign |
Het |
| Mmp20 |
G |
A |
9: 7,655,002 (GRCm39) |
R370Q |
probably benign |
Het |
| Or10al4 |
T |
C |
17: 38,037,545 (GRCm39) |
V219A |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,543 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or4k6 |
A |
G |
14: 50,476,172 (GRCm39) |
S57P |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,299,382 (GRCm39) |
H168L |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,894 (GRCm39) |
I319N |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,263 (GRCm39) |
V733A |
possibly damaging |
Het |
| Tet3 |
G |
C |
6: 83,347,532 (GRCm39) |
P1154R |
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 |
|
|
R3029:Rgs20
|
UTSW |
1 |
5,140,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CATGGCACGTGCTTTTAATATGTG -3'
(R):5'- TCTCTGTGAGCCAAACAGACG -3'
Sequencing Primer
(F):5'- TAAAGACTTAGTGTGGGGGAATCTG -3'
(R):5'- TGTGAGCCAAACAGACGAAACC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation