Incidental Mutation 'R4080:Rgs22'
| ID |
316840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
040856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36107222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 55
(E55K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172831
AA Change: E55K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: E55K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
|
RGS
|
845 |
973 |
3.15e-2 |
SMART |
|
RGS
|
1014 |
1134 |
1.56e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174881
AA Change: E16K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: E16K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
|
RGS
|
721 |
849 |
3.15e-2 |
SMART |
|
RGS
|
890 |
1010 |
1.56e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Adam7 |
T |
C |
14: 68,757,988 (GRCm39) |
T245A |
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,402,367 (GRCm39) |
Q554* |
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,398,493 (GRCm39) |
Q1024K |
probably damaging |
Het |
| C7 |
T |
C |
15: 5,019,946 (GRCm39) |
S734G |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,771,255 (GRCm39) |
S987T |
probably benign |
Het |
| Chrna2 |
C |
A |
14: 66,380,873 (GRCm39) |
Y47* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,380,866 (GRCm39) |
G45V |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,958,287 (GRCm39) |
Q117K |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,029,304 (GRCm39) |
S253G |
probably benign |
Het |
| Cttn |
T |
A |
7: 144,011,461 (GRCm39) |
D116V |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,790,973 (GRCm39) |
V286A |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,285,736 (GRCm39) |
S632T |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,484,972 (GRCm39) |
N1118K |
probably benign |
Het |
| Eif2a |
C |
T |
3: 58,447,050 (GRCm39) |
T92M |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,382 (GRCm39) |
C1068S |
probably benign |
Het |
| Fstl1 |
G |
A |
16: 37,642,965 (GRCm39) |
V110I |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,275,542 (GRCm39) |
I465T |
probably damaging |
Het |
| Gpr137 |
C |
T |
19: 6,917,791 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,371 (GRCm39) |
I561T |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,541,149 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
A |
G |
9: 21,314,430 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 115,937,743 (GRCm39) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,041,923 (GRCm39) |
R700L |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,612,240 (GRCm39) |
D1295G |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,873,559 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,435,815 (GRCm39) |
Y903N |
probably damaging |
Het |
| Nek6 |
A |
G |
2: 38,440,649 (GRCm39) |
H19R |
probably damaging |
Het |
| Nktr |
A |
C |
9: 121,570,192 (GRCm39) |
T127P |
probably damaging |
Het |
| Noc4l |
A |
T |
5: 110,797,738 (GRCm39) |
D335E |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,449,622 (GRCm39) |
D1993G |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,683 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,619 (GRCm39) |
F275I |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,908,583 (GRCm39) |
Q616L |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,832 (GRCm39) |
D127V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,633 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
A |
5: 21,018,294 (GRCm39) |
I16F |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,624,755 (GRCm39) |
R1200L |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,134 (GRCm39) |
N404D |
probably benign |
Het |
| Ptch2 |
C |
G |
4: 116,968,403 (GRCm39) |
A926G |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 30,333,317 (GRCm39) |
F6L |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,942,293 (GRCm39) |
I853T |
possibly damaging |
Het |
| Reep6 |
G |
A |
10: 80,165,996 (GRCm39) |
|
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,143,154 (GRCm39) |
S547R |
probably benign |
Het |
| Rtl6 |
T |
C |
15: 84,441,202 (GRCm39) |
T65A |
possibly damaging |
Het |
| Scarb1 |
G |
T |
5: 125,354,859 (GRCm39) |
P491Q |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,302 (GRCm39) |
S505G |
probably benign |
Het |
| Scube1 |
T |
G |
15: 83,492,948 (GRCm39) |
Q904P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,517 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,648,329 (GRCm39) |
E200G |
probably damaging |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
C |
15: 44,582,339 (GRCm39) |
K95R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,813,796 (GRCm39) |
D488V |
probably damaging |
Het |
| Txk |
G |
A |
5: 72,858,006 (GRCm39) |
P381S |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,299,648 (GRCm39) |
M198K |
probably benign |
Het |
| Unc5a |
A |
T |
13: 55,152,294 (GRCm39) |
T786S |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,991,959 (GRCm39) |
R231Q |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 120,410,532 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
G |
7: 6,308,105 (GRCm39) |
C258G |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Rgs22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Rgs22
|
APN |
15 |
36,100,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00594:Rgs22
|
APN |
15 |
36,083,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01464:Rgs22
|
APN |
15 |
36,083,787 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01686:Rgs22
|
APN |
15 |
36,103,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01761:Rgs22
|
APN |
15 |
36,103,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02045:Rgs22
|
APN |
15 |
36,013,300 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02378:Rgs22
|
APN |
15 |
36,103,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02490:Rgs22
|
APN |
15 |
36,054,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03219:Rgs22
|
APN |
15 |
36,107,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03229:Rgs22
|
APN |
15 |
36,015,925 (GRCm39) |
splice site |
probably benign |
|
|
IGL03328:Rgs22
|
APN |
15 |
36,043,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
3-1:Rgs22
|
UTSW |
15 |
36,100,182 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0254:Rgs22
|
UTSW |
15 |
36,104,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0463:Rgs22
|
UTSW |
15 |
36,093,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Rgs22
|
UTSW |
15 |
36,099,941 (GRCm39) |
nonsense |
probably null |
|
|
R0486:Rgs22
|
UTSW |
15 |
36,093,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0554:Rgs22
|
UTSW |
15 |
36,054,855 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0602:Rgs22
|
UTSW |
15 |
36,140,018 (GRCm39) |
splice site |
probably benign |
|
|
R0906:Rgs22
|
UTSW |
15 |
36,104,048 (GRCm39) |
intron |
probably benign |
|
|
R1159:Rgs22
|
UTSW |
15 |
36,040,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Rgs22
|
UTSW |
15 |
36,101,908 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1439:Rgs22
|
UTSW |
15 |
36,025,939 (GRCm39) |
splice site |
probably benign |
|
|
R1491:Rgs22
|
UTSW |
15 |
36,093,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1502:Rgs22
|
UTSW |
15 |
36,080,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Rgs22
|
UTSW |
15 |
36,013,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Rgs22
|
UTSW |
15 |
36,048,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Rgs22
|
UTSW |
15 |
36,087,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Rgs22
|
UTSW |
15 |
36,101,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1972:Rgs22
|
UTSW |
15 |
36,103,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2109:Rgs22
|
UTSW |
15 |
36,099,880 (GRCm39) |
nonsense |
probably null |
|
|
R2208:Rgs22
|
UTSW |
15 |
36,050,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3696:Rgs22
|
UTSW |
15 |
36,100,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3697:Rgs22
|
UTSW |
15 |
36,100,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3698:Rgs22
|
UTSW |
15 |
36,100,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:Rgs22
|
UTSW |
15 |
36,107,051 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4363:Rgs22
|
UTSW |
15 |
36,104,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4591:Rgs22
|
UTSW |
15 |
36,100,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4673:Rgs22
|
UTSW |
15 |
36,100,079 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4829:Rgs22
|
UTSW |
15 |
36,104,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Rgs22
|
UTSW |
15 |
36,050,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4865:Rgs22
|
UTSW |
15 |
36,100,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Rgs22
|
UTSW |
15 |
36,087,570 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4944:Rgs22
|
UTSW |
15 |
36,026,088 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4975:Rgs22
|
UTSW |
15 |
36,055,022 (GRCm39) |
nonsense |
probably null |
|
|
R5056:Rgs22
|
UTSW |
15 |
36,050,391 (GRCm39) |
splice site |
probably null |
|
|
R5126:Rgs22
|
UTSW |
15 |
36,040,790 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5138:Rgs22
|
UTSW |
15 |
36,099,934 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5444:Rgs22
|
UTSW |
15 |
36,015,773 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5507:Rgs22
|
UTSW |
15 |
36,099,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5640:Rgs22
|
UTSW |
15 |
36,107,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5969:Rgs22
|
UTSW |
15 |
36,015,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Rgs22
|
UTSW |
15 |
36,010,713 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6053:Rgs22
|
UTSW |
15 |
36,100,153 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6134:Rgs22
|
UTSW |
15 |
36,107,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Rgs22
|
UTSW |
15 |
36,100,176 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6295:Rgs22
|
UTSW |
15 |
36,087,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6352:Rgs22
|
UTSW |
15 |
36,093,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Rgs22
|
UTSW |
15 |
36,048,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6900:Rgs22
|
UTSW |
15 |
36,010,893 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6947:Rgs22
|
UTSW |
15 |
36,104,036 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7102:Rgs22
|
UTSW |
15 |
36,122,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Rgs22
|
UTSW |
15 |
36,103,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7263:Rgs22
|
UTSW |
15 |
36,015,789 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7623:Rgs22
|
UTSW |
15 |
36,040,856 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7732:Rgs22
|
UTSW |
15 |
36,026,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Rgs22
|
UTSW |
15 |
36,122,415 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7771:Rgs22
|
UTSW |
15 |
36,050,224 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7835:Rgs22
|
UTSW |
15 |
36,082,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7849:Rgs22
|
UTSW |
15 |
36,099,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Rgs22
|
UTSW |
15 |
36,082,148 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8384:Rgs22
|
UTSW |
15 |
36,046,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8516:Rgs22
|
UTSW |
15 |
36,010,481 (GRCm39) |
makesense |
probably null |
|
|
R8904:Rgs22
|
UTSW |
15 |
36,026,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8923:Rgs22
|
UTSW |
15 |
36,093,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Rgs22
|
UTSW |
15 |
36,098,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Rgs22
|
UTSW |
15 |
36,087,544 (GRCm39) |
missense |
probably benign |
|
|
R9660:Rgs22
|
UTSW |
15 |
36,040,856 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9679:Rgs22
|
UTSW |
15 |
36,087,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9728:Rgs22
|
UTSW |
15 |
36,040,856 (GRCm39) |
missense |
probably benign |
0.08 |
|
RF035:Rgs22
|
UTSW |
15 |
36,010,981 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF043:Rgs22
|
UTSW |
15 |
36,010,982 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGTTGACATTGATGGCCTC -3'
(R):5'- TAAGGAAGACTTCACTGGACCC -3'
Sequencing Primer
(F):5'- ATGGCCTCATCTTCGCAGG -3'
(R):5'- TCCAGCCAAGGAGTTTCCAAAATC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation