Incidental Mutation 'R1556:Rgs12'
ID |
170259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs12
|
Ensembl Gene |
ENSMUSG00000029101 |
Gene Name |
regulator of G-protein signaling 12 |
Synonyms |
4632412M04Rik, 1200016K18Rik |
MMRRC Submission |
039595-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R1556 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
35106789-35196988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35196626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 769
(R769G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030985]
[ENSMUST00000087684]
[ENSMUST00000114283]
[ENSMUST00000114285]
[ENSMUST00000202573]
|
AlphaFold |
Q8CGE9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030985
|
SMART Domains |
Protein: ENSMUSP00000030985 Gene: ENSMUSG00000029102
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
FN2
|
98 |
145 |
7.31e-27 |
SMART |
EGF
|
160 |
195 |
2.11e-4 |
SMART |
Pfam:fn1
|
199 |
234 |
7.7e-11 |
PFAM |
EGF
|
241 |
276 |
1.69e-3 |
SMART |
KR
|
281 |
366 |
5.2e-36 |
SMART |
Tryp_SPc
|
405 |
639 |
2.07e-90 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087684
AA Change: R1417G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000084970 Gene: ENSMUSG00000029101 AA Change: R1417G
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
98 |
5.25e-18 |
SMART |
PTB
|
224 |
373 |
5.05e-28 |
SMART |
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
RGS
|
715 |
832 |
2.84e-41 |
SMART |
Pfam:RGS12_us1
|
836 |
953 |
4.3e-61 |
PFAM |
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
Pfam:RGS12_us2
|
1106 |
1180 |
2.4e-37 |
PFAM |
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
Pfam:RGS12_usC
|
1238 |
1379 |
9.2e-49 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114283
AA Change: R759G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109922 Gene: ENSMUSG00000029101 AA Change: R759G
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
RGS
|
57 |
174 |
2.84e-41 |
SMART |
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
low complexity region
|
253 |
270 |
N/A |
INTRINSIC |
RBD
|
304 |
374 |
3.12e-28 |
SMART |
RBD
|
376 |
446 |
2.44e-21 |
SMART |
GoLoco
|
529 |
551 |
9.74e-9 |
SMART |
low complexity region
|
601 |
622 |
N/A |
INTRINSIC |
low complexity region
|
634 |
650 |
N/A |
INTRINSIC |
low complexity region
|
697 |
729 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114285
AA Change: R769G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109924 Gene: ENSMUSG00000029101 AA Change: R769G
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
RGS
|
67 |
184 |
2.84e-41 |
SMART |
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
low complexity region
|
220 |
232 |
N/A |
INTRINSIC |
low complexity region
|
263 |
280 |
N/A |
INTRINSIC |
RBD
|
314 |
384 |
3.12e-28 |
SMART |
RBD
|
386 |
456 |
2.44e-21 |
SMART |
GoLoco
|
539 |
561 |
9.74e-9 |
SMART |
low complexity region
|
611 |
632 |
N/A |
INTRINSIC |
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
low complexity region
|
707 |
739 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000150139
|
SMART Domains |
Protein: ENSMUSP00000117158 Gene: ENSMUSG00000029101
Domain | Start | End | E-Value | Type |
Blast:RBD
|
2 |
33 |
5e-13 |
BLAST |
Pfam:RGS12_us2
|
35 |
80 |
5.8e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201038
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202126
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202573
|
SMART Domains |
Protein: ENSMUSP00000144344 Gene: ENSMUSG00000029102
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
T |
C |
8: 73,203,477 (GRCm39) |
S302P |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,466,819 (GRCm39) |
T1626A |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Arid5a |
T |
A |
1: 36,359,245 (GRCm39) |
Y520* |
probably null |
Het |
Aven |
G |
A |
2: 112,461,230 (GRCm39) |
M215I |
probably damaging |
Het |
Cabyr |
A |
G |
18: 12,877,837 (GRCm39) |
D58G |
probably damaging |
Het |
Ccdc146 |
A |
G |
5: 21,535,551 (GRCm39) |
Y168H |
probably damaging |
Het |
Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
Cd68 |
T |
A |
11: 69,556,676 (GRCm39) |
T44S |
probably damaging |
Het |
Clstn2 |
A |
T |
9: 97,338,558 (GRCm39) |
I867N |
probably benign |
Het |
Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,586,672 (GRCm39) |
V1783A |
possibly damaging |
Het |
Dach2 |
T |
C |
X: 112,208,214 (GRCm39) |
S31P |
probably benign |
Het |
Dpp8 |
T |
A |
9: 64,958,761 (GRCm39) |
W279R |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,890,921 (GRCm39) |
I2817F |
possibly damaging |
Het |
Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
Gdf7 |
T |
C |
12: 8,351,698 (GRCm39) |
N79S |
unknown |
Het |
Gpam |
A |
G |
19: 55,064,763 (GRCm39) |
V647A |
possibly damaging |
Het |
Gpatch1 |
T |
C |
7: 34,994,776 (GRCm39) |
T497A |
probably benign |
Het |
Grin2a |
A |
T |
16: 9,525,579 (GRCm39) |
F337L |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
H2-Aa |
A |
T |
17: 34,503,390 (GRCm39) |
V69D |
possibly damaging |
Het |
H2-M10.5 |
T |
C |
17: 37,084,205 (GRCm39) |
Y56H |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,351,219 (GRCm39) |
|
probably null |
Het |
Krt77 |
A |
G |
15: 101,769,713 (GRCm39) |
S386P |
probably damaging |
Het |
L3mbtl2 |
T |
A |
15: 81,566,203 (GRCm39) |
M342K |
probably benign |
Het |
Ldlrad1 |
A |
G |
4: 107,075,010 (GRCm39) |
T186A |
probably benign |
Het |
Lins1 |
C |
A |
7: 66,360,385 (GRCm39) |
C168* |
probably null |
Het |
Lrrtm3 |
G |
A |
10: 63,923,928 (GRCm39) |
T413M |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,348,813 (GRCm39) |
D4038G |
probably damaging |
Het |
Mark3 |
T |
G |
12: 111,594,275 (GRCm39) |
N308K |
probably damaging |
Het |
Mdga2 |
T |
A |
12: 66,597,367 (GRCm39) |
Y709F |
possibly damaging |
Het |
Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
Or1p1 |
T |
A |
11: 74,179,762 (GRCm39) |
C97S |
probably damaging |
Het |
Or4k15c |
G |
A |
14: 50,321,916 (GRCm39) |
A74V |
possibly damaging |
Het |
Or51a24 |
T |
A |
7: 103,733,468 (GRCm39) |
H273L |
probably benign |
Het |
Or6c76 |
T |
C |
10: 129,612,242 (GRCm39) |
V168A |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,894,068 (GRCm39) |
|
probably benign |
Het |
P4ha2 |
A |
G |
11: 54,015,836 (GRCm39) |
T408A |
probably damaging |
Het |
Pcdh8 |
T |
G |
14: 80,007,843 (GRCm39) |
D240A |
probably damaging |
Het |
Pcyt2 |
T |
C |
11: 120,502,911 (GRCm39) |
|
probably null |
Het |
Pecr |
T |
A |
1: 72,298,542 (GRCm39) |
I293L |
probably benign |
Het |
Pogk |
A |
G |
1: 166,226,402 (GRCm39) |
V583A |
possibly damaging |
Het |
Prkg1 |
T |
C |
19: 30,602,143 (GRCm39) |
K371R |
probably benign |
Het |
Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
Sgtb |
T |
A |
13: 104,276,284 (GRCm39) |
N237K |
probably damaging |
Het |
Sh3bgrl2 |
T |
C |
9: 83,476,751 (GRCm39) |
V91A |
probably damaging |
Het |
Slc4a1ap |
G |
A |
5: 31,691,554 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,778,872 (GRCm38) |
V940A |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,090,499 (GRCm39) |
T740A |
probably benign |
Het |
Tnk2 |
G |
T |
16: 32,489,737 (GRCm39) |
|
probably null |
Het |
Trpv2 |
A |
G |
11: 62,483,059 (GRCm39) |
Y450C |
probably damaging |
Het |
Tut7 |
T |
C |
13: 59,948,054 (GRCm39) |
T354A |
probably benign |
Het |
Tvp23a |
A |
T |
16: 10,264,862 (GRCm39) |
D16E |
probably damaging |
Het |
Twnk |
T |
C |
19: 44,997,850 (GRCm39) |
F460L |
possibly damaging |
Het |
Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,757,356 (GRCm39) |
L1021P |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,837,993 (GRCm39) |
Y1848H |
probably damaging |
Het |
Vwa8 |
T |
G |
14: 79,324,121 (GRCm39) |
N1141K |
probably benign |
Het |
Yipf3 |
A |
G |
17: 46,561,793 (GRCm39) |
Y200C |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,569,044 (GRCm39) |
V680A |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,231,347 (GRCm39) |
E722G |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,806,059 (GRCm39) |
L2665H |
probably damaging |
Het |
|
Other mutations in Rgs12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01443:Rgs12
|
APN |
5 |
35,132,563 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02296:Rgs12
|
APN |
5 |
35,123,464 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02337:Rgs12
|
APN |
5 |
35,177,697 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02483:Rgs12
|
APN |
5 |
35,187,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Rgs12
|
APN |
5 |
35,183,227 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02989:Rgs12
|
APN |
5 |
35,122,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Rgs12
|
UTSW |
5 |
35,180,120 (GRCm39) |
unclassified |
probably benign |
|
R0015:Rgs12
|
UTSW |
5 |
35,180,120 (GRCm39) |
unclassified |
probably benign |
|
R0046:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Rgs12
|
UTSW |
5 |
35,124,008 (GRCm39) |
missense |
probably benign |
0.03 |
R0106:Rgs12
|
UTSW |
5 |
35,124,008 (GRCm39) |
missense |
probably benign |
0.03 |
R0233:Rgs12
|
UTSW |
5 |
35,187,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:Rgs12
|
UTSW |
5 |
35,187,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R0245:Rgs12
|
UTSW |
5 |
35,187,424 (GRCm39) |
missense |
probably benign |
0.01 |
R0611:Rgs12
|
UTSW |
5 |
35,176,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R0704:Rgs12
|
UTSW |
5 |
35,180,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0723:Rgs12
|
UTSW |
5 |
35,181,710 (GRCm39) |
unclassified |
probably benign |
|
R1174:Rgs12
|
UTSW |
5 |
35,123,809 (GRCm39) |
missense |
probably benign |
0.00 |
R1538:Rgs12
|
UTSW |
5 |
35,178,511 (GRCm39) |
missense |
probably damaging |
0.98 |
R1774:Rgs12
|
UTSW |
5 |
35,123,747 (GRCm39) |
missense |
probably benign |
0.34 |
R1791:Rgs12
|
UTSW |
5 |
35,123,456 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1866:Rgs12
|
UTSW |
5 |
35,123,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Rgs12
|
UTSW |
5 |
35,123,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R1923:Rgs12
|
UTSW |
5 |
35,189,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Rgs12
|
UTSW |
5 |
35,187,872 (GRCm39) |
missense |
probably benign |
0.00 |
R2107:Rgs12
|
UTSW |
5 |
35,124,079 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3730:Rgs12
|
UTSW |
5 |
35,189,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R3731:Rgs12
|
UTSW |
5 |
35,189,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R3808:Rgs12
|
UTSW |
5 |
35,189,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3827:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3829:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3830:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4392:Rgs12
|
UTSW |
5 |
35,189,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Rgs12
|
UTSW |
5 |
35,177,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R5132:Rgs12
|
UTSW |
5 |
35,147,156 (GRCm39) |
intron |
probably benign |
|
R5213:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5296:Rgs12
|
UTSW |
5 |
35,178,448 (GRCm39) |
unclassified |
probably benign |
|
R5480:Rgs12
|
UTSW |
5 |
35,123,455 (GRCm39) |
missense |
probably benign |
0.09 |
R5510:Rgs12
|
UTSW |
5 |
35,123,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R5708:Rgs12
|
UTSW |
5 |
35,123,696 (GRCm39) |
missense |
probably benign |
0.41 |
R5987:Rgs12
|
UTSW |
5 |
35,177,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6053:Rgs12
|
UTSW |
5 |
35,123,296 (GRCm39) |
missense |
probably benign |
0.01 |
R6113:Rgs12
|
UTSW |
5 |
35,177,667 (GRCm39) |
missense |
probably damaging |
0.99 |
R6401:Rgs12
|
UTSW |
5 |
35,177,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Rgs12
|
UTSW |
5 |
35,180,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Rgs12
|
UTSW |
5 |
35,180,515 (GRCm39) |
missense |
probably null |
0.27 |
R6857:Rgs12
|
UTSW |
5 |
35,187,366 (GRCm39) |
nonsense |
probably null |
|
R7082:Rgs12
|
UTSW |
5 |
35,124,050 (GRCm39) |
missense |
probably benign |
0.00 |
R7250:Rgs12
|
UTSW |
5 |
35,122,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7276:Rgs12
|
UTSW |
5 |
35,183,715 (GRCm39) |
missense |
probably benign |
0.06 |
R7444:Rgs12
|
UTSW |
5 |
35,183,287 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7632:Rgs12
|
UTSW |
5 |
35,122,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R8049:Rgs12
|
UTSW |
5 |
35,183,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8089:Rgs12
|
UTSW |
5 |
35,177,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R8241:Rgs12
|
UTSW |
5 |
35,123,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8797:Rgs12
|
UTSW |
5 |
35,186,915 (GRCm39) |
missense |
|
|
R8927:Rgs12
|
UTSW |
5 |
35,123,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8928:Rgs12
|
UTSW |
5 |
35,123,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9073:Rgs12
|
UTSW |
5 |
35,177,753 (GRCm39) |
unclassified |
probably benign |
|
R9211:Rgs12
|
UTSW |
5 |
35,123,165 (GRCm39) |
missense |
probably damaging |
0.98 |
R9485:Rgs12
|
UTSW |
5 |
35,189,614 (GRCm39) |
missense |
probably damaging |
0.99 |
R9550:Rgs12
|
UTSW |
5 |
35,196,665 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Rgs12
|
UTSW |
5 |
35,123,113 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rgs12
|
UTSW |
5 |
35,183,696 (GRCm39) |
missense |
probably benign |
0.44 |
Z1177:Rgs12
|
UTSW |
5 |
35,122,198 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCAGGTGACAGCTTCTCTTCTC -3'
(R):5'- ACAATGCAGTACATGGCAGGTCTTC -3'
Sequencing Primer
(F):5'- TCTCTTCTCCCCATGACAGG -3'
(R):5'- CTGCTATAGAGGTGTCTAACCCAG -3'
|
Posted On |
2014-04-13 |