Incidental Mutation 'R2107:Rgs12'
| ID |
232160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs12
|
| Ensembl Gene |
ENSMUSG00000029101 |
| Gene Name |
regulator of G-protein signaling 12 |
| Synonyms |
4632412M04Rik, 1200016K18Rik |
| MMRRC Submission |
040111-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R2107 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35106789-35196988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35124079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 621
(K621E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030984]
[ENSMUST00000087684]
|
| AlphaFold |
Q8CGE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030984
AA Change: K621E
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: K621E
| 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 |
|
low complexity region
|
849 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
928 |
N/A |
INTRINSIC |
|
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
|
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
|
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
|
low complexity region
|
1259 |
1280 |
N/A |
INTRINSIC |
|
low complexity region
|
1292 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087684
AA Change: K621E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: K621E
| 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 |
noncoding transcript
Transcript: ENSMUST00000128161
|
| Meta Mutation Damage Score |
0.0613 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,685,744 (GRCm39) |
L364Q |
probably damaging |
Het |
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Ace2 |
A |
G |
X: 162,923,728 (GRCm39) |
N24S |
probably benign |
Het |
| Acp2 |
G |
A |
2: 91,033,940 (GRCm39) |
|
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Bcas3 |
G |
A |
11: 85,348,704 (GRCm39) |
V199I |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,973,079 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,887,808 (GRCm39) |
D1557E |
probably benign |
Het |
| Cdc20 |
T |
C |
4: 118,290,710 (GRCm39) |
Y430C |
probably damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,195,166 (GRCm39) |
D350N |
probably benign |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,833 (GRCm39) |
|
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,036,156 (GRCm39) |
Y185* |
probably null |
Het |
| Cmtm8 |
A |
T |
9: 114,625,176 (GRCm39) |
V85D |
possibly damaging |
Het |
| Cplx4 |
A |
G |
18: 66,089,964 (GRCm39) |
S152P |
probably benign |
Het |
| Crmp1 |
G |
T |
5: 37,399,838 (GRCm39) |
R117L |
probably benign |
Het |
| Csad |
G |
C |
15: 102,087,469 (GRCm39) |
L365V |
probably null |
Het |
| Dyrk1a |
C |
T |
16: 94,487,386 (GRCm39) |
T532M |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fan1 |
T |
G |
7: 64,016,536 (GRCm39) |
R529S |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,737,528 (GRCm39) |
W173R |
probably damaging |
Het |
| Gm9611 |
A |
T |
14: 42,116,611 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gnal |
T |
A |
18: 67,346,649 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hint3 |
A |
T |
10: 30,494,252 (GRCm39) |
F33I |
probably damaging |
Het |
| Ipcef1 |
A |
G |
10: 6,840,501 (GRCm39) |
S403P |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,514,822 (GRCm39) |
N3007S |
probably benign |
Het |
| Kpna3 |
T |
C |
14: 61,607,933 (GRCm39) |
D424G |
possibly damaging |
Het |
| Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
| Lamc2 |
A |
G |
1: 153,030,132 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
G |
T |
7: 45,443,393 (GRCm39) |
C692F |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,039,296 (GRCm39) |
M269T |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,531 (GRCm39) |
T227S |
probably benign |
Het |
| Lrrk1 |
C |
A |
7: 65,929,030 (GRCm39) |
D1201Y |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,905 (GRCm39) |
Y588N |
probably damaging |
Het |
| Mmp1b |
A |
G |
9: 7,369,310 (GRCm39) |
W346R |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,686,901 (GRCm39) |
Y177H |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,660,717 (GRCm39) |
K2166R |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,382,636 (GRCm39) |
Y1544H |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,455 (GRCm39) |
C12* |
probably null |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,894,097 (GRCm39) |
V172I |
probably damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,436 (GRCm39) |
|
probably null |
Het |
| Ogg1 |
C |
A |
6: 113,306,254 (GRCm39) |
N150K |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,355 (GRCm39) |
A99E |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,216 (GRCm39) |
V248A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Pck1 |
G |
C |
2: 172,995,861 (GRCm39) |
E120Q |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,168,266 (GRCm39) |
V229A |
probably damaging |
Het |
| Pias2 |
T |
C |
18: 77,185,167 (GRCm39) |
F83L |
probably benign |
Het |
| Plagl1 |
A |
C |
10: 13,004,391 (GRCm39) |
|
probably benign |
Het |
| Plin3 |
A |
T |
17: 56,591,391 (GRCm39) |
S130T |
probably benign |
Het |
| Rcc2 |
A |
G |
4: 140,448,496 (GRCm39) |
Y515C |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,148,091 (GRCm39) |
T309I |
probably damaging |
Het |
| Rpusd3 |
G |
T |
6: 113,392,523 (GRCm39) |
T335N |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,916,244 (GRCm39) |
I1218F |
probably damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,758,879 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,120,999 (GRCm39) |
V363D |
probably damaging |
Het |
| Smap1 |
A |
T |
1: 23,887,535 (GRCm39) |
M248K |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,318,113 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,744 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
T |
G |
5: 64,442,048 (GRCm39) |
N689K |
probably benign |
Het |
| Tff2 |
T |
C |
17: 31,361,256 (GRCm39) |
E99G |
possibly damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,378 (GRCm39) |
N239D |
possibly damaging |
Het |
| Trim37 |
G |
A |
11: 87,050,651 (GRCm39) |
R230Q |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,989,546 (GRCm39) |
M2090T |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,108,895 (GRCm39) |
|
probably null |
Het |
| Usp43 |
GC |
G |
11: 67,746,566 (GRCm39) |
|
probably null |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,315 (GRCm39) |
E829G |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,393,762 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
A |
T |
9: 20,353,533 (GRCm39) |
D85E |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,808,593 (GRCm39) |
F1484I |
possibly 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 |
|
R1556:Rgs12
|
UTSW |
5 |
35,196,626 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
|
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'- CTTACACAGACTCTACTGACGG -3'
(R):5'- TGTTGGACCAGCTGGAGAAC -3'
Sequencing Primer
(F):5'- AGACTCTACTGACGGGTGGTC -3'
(R):5'- TAAGGCCAGGGCTCAGAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation