Incidental Mutation 'R5138:Rgs22'
| ID |
396316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
042724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5138 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36099934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 260
(S260R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172831
AA Change: S384R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: S384R
| 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 |
probably benign
Transcript: ENSMUST00000174881
AA Change: S260R
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: S260R
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (76/78) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
A |
9: 46,218,119 (GRCm39) |
|
probably null |
Het |
| Actr10 |
G |
A |
12: 71,008,653 (GRCm39) |
G362E |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,600 (GRCm39) |
T278A |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,152 (GRCm39) |
K116M |
probably damaging |
Het |
| Arrdc3 |
T |
C |
13: 81,039,184 (GRCm39) |
Y72H |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,819,649 (GRCm39) |
V2212A |
probably benign |
Het |
| Bcdin3d |
A |
G |
15: 99,368,932 (GRCm39) |
F89S |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 30,212,929 (GRCm39) |
A44S |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,452,269 (GRCm39) |
E28G |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,148,061 (GRCm39) |
F2722L |
probably damaging |
Het |
| Clec11a |
A |
G |
7: 43,954,062 (GRCm39) |
V297A |
probably benign |
Het |
| Clk2 |
C |
A |
3: 89,082,806 (GRCm39) |
|
probably benign |
Het |
| Clybl |
T |
A |
14: 122,608,716 (GRCm39) |
C103S |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,551,248 (GRCm39) |
N2123Y |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,496,402 (GRCm39) |
P517L |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,217,726 (GRCm39) |
I717N |
probably damaging |
Het |
| Derl2 |
C |
A |
11: 70,905,390 (GRCm39) |
G31* |
probably null |
Het |
| Dgcr8 |
A |
G |
16: 18,095,941 (GRCm39) |
V523A |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,984,571 (GRCm39) |
S3090P |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,367,274 (GRCm39) |
H641N |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,379,821 (GRCm39) |
T1590S |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,128,012 (GRCm39) |
L57Q |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,530,880 (GRCm39) |
V47D |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,715,922 (GRCm39) |
Y823H |
probably damaging |
Het |
| Fam81a |
C |
T |
9: 70,006,457 (GRCm39) |
R185K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,811,768 (GRCm39) |
I2696V |
probably benign |
Het |
| Glis1 |
GCACACA |
GCACA |
4: 107,480,302 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,664 (GRCm39) |
N1548K |
probably benign |
Het |
| H3c2 |
G |
A |
13: 23,936,613 (GRCm39) |
R84H |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,234,470 (GRCm39) |
I575N |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,518,239 (GRCm39) |
I449V |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,213,902 (GRCm39) |
T1223A |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,966,197 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,647 (GRCm39) |
Y103H |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,707,693 (GRCm39) |
H1752R |
probably damaging |
Het |
| Lrp5 |
T |
A |
19: 3,678,319 (GRCm39) |
Q512L |
probably benign |
Het |
| Map2k5 |
T |
C |
9: 63,170,440 (GRCm39) |
T293A |
probably damaging |
Het |
| Myo7a |
C |
A |
7: 97,732,806 (GRCm39) |
R657L |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,631,963 (GRCm39) |
|
probably null |
Het |
| Nfatc2 |
G |
A |
2: 168,378,229 (GRCm39) |
H258Y |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,202,801 (GRCm39) |
L1336Q |
probably damaging |
Het |
| Or10z1 |
A |
G |
1: 174,078,395 (GRCm39) |
S33P |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,291 (GRCm39) |
I160V |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,140 (GRCm39) |
M119V |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,899,430 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pcdh17 |
T |
G |
14: 84,684,649 (GRCm39) |
I372S |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,827,556 (GRCm39) |
Y200* |
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,919 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,931,115 (GRCm39) |
F910S |
possibly damaging |
Het |
| Prdm13 |
G |
A |
4: 21,679,507 (GRCm39) |
P328S |
unknown |
Het |
| Prdm5 |
C |
T |
6: 65,833,086 (GRCm39) |
Q152* |
probably null |
Het |
| Psat1 |
A |
G |
19: 15,892,312 (GRCm39) |
F216S |
possibly damaging |
Het |
| Psg21 |
A |
T |
7: 18,390,453 (GRCm39) |
M1K |
probably null |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,000 (GRCm39) |
S994T |
probably benign |
Het |
| Rax |
A |
G |
18: 66,071,389 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,675,175 (GRCm39) |
H3317Q |
probably damaging |
Het |
| Sc5d |
A |
G |
9: 42,166,811 (GRCm39) |
Y243H |
probably damaging |
Het |
| Serpinf1 |
T |
C |
11: 75,305,854 (GRCm39) |
E178G |
probably damaging |
Het |
| Slc15a3 |
A |
T |
19: 10,833,369 (GRCm39) |
Y462F |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,063,534 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,439,309 (GRCm39) |
P1111S |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,507,205 (GRCm39) |
K204E |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,786,486 (GRCm39) |
I317T |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,838,879 (GRCm39) |
N20S |
probably damaging |
Het |
| Tfrc |
C |
A |
16: 32,434,027 (GRCm39) |
Y85* |
probably null |
Het |
| Tmem87a |
T |
C |
2: 120,202,026 (GRCm39) |
T412A |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,239 (GRCm39) |
K2705E |
probably damaging |
Het |
| Vmn1r230 |
A |
T |
17: 21,067,230 (GRCm39) |
K140* |
probably null |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,240 (GRCm39) |
H734Q |
possibly damaging |
Het |
| Zbtb8os |
T |
A |
4: 129,240,719 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,024,871 (GRCm39) |
H1466Q |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,362 (GRCm39) |
C479Y |
probably damaging |
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 |
|
R4080:Rgs22
|
UTSW |
15 |
36,107,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGTCCTTAAGAACTTTCAGCCTC -3'
(R):5'- CGGTTGAAGAATTCCTAGATGCC -3'
Sequencing Primer
(F):5'- AAGAACTTTCAGCCTCTCTATGTC -3'
(R):5'- TTTATCCTGAGAGAGGCCATCCAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation