Incidental Mutation 'R4865:Rgs22'
| ID |
374863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
042475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4865 (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 36100358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 243
(I243N)
|
| 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: I243N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: I243N
| 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 damaging
Transcript: ENSMUST00000174881
AA Change: I119N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: I119N
| 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 |
0.1132 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (86/88) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,938,157 (GRCm39) |
V639M |
probably damaging |
Het |
| Adgrf4 |
A |
G |
17: 42,978,156 (GRCm39) |
S396P |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,469 (GRCm39) |
I123N |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,095,567 (GRCm39) |
Y517H |
probably damaging |
Het |
| Aph1c |
A |
C |
9: 66,735,120 (GRCm39) |
I77S |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,408,942 (GRCm39) |
|
probably null |
Het |
| Atp13a5 |
G |
A |
16: 29,066,912 (GRCm39) |
P1020L |
probably damaging |
Het |
| BC024139 |
A |
T |
15: 76,010,266 (GRCm39) |
M80K |
possibly damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cenpn |
A |
G |
8: 117,661,512 (GRCm39) |
I204V |
probably damaging |
Het |
| Ces4a |
A |
T |
8: 105,873,790 (GRCm39) |
M420L |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,755,681 (GRCm39) |
D322E |
probably benign |
Het |
| Clcn6 |
A |
T |
4: 148,104,223 (GRCm39) |
I223N |
probably damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,428 (GRCm39) |
K50E |
possibly damaging |
Het |
| Creg1 |
T |
A |
1: 165,597,432 (GRCm39) |
C135* |
probably null |
Het |
| Cyp4f13 |
C |
T |
17: 33,144,678 (GRCm39) |
R411Q |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,234 (GRCm39) |
F1426L |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,780,917 (GRCm39) |
*1917R |
probably null |
Het |
| Dync1h1 |
T |
G |
12: 110,606,235 (GRCm39) |
L2435R |
possibly damaging |
Het |
| Eif3l |
C |
A |
15: 78,965,849 (GRCm39) |
Y166* |
probably null |
Het |
| Emilin1 |
T |
A |
5: 31,075,128 (GRCm39) |
N456K |
possibly damaging |
Het |
| Fam83f |
C |
T |
15: 80,576,650 (GRCm39) |
R434C |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,786,785 (GRCm39) |
D10G |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,821,295 (GRCm39) |
V5676G |
possibly damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
A |
G |
11: 99,684,064 (GRCm39) |
|
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,183,286 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
A |
G |
6: 136,464,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Grp |
A |
T |
18: 66,013,041 (GRCm39) |
D69V |
probably damaging |
Het |
| Gucy1a1 |
G |
T |
3: 82,026,469 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,357,980 (GRCm39) |
L376Q |
probably damaging |
Het |
| Ifne |
A |
T |
4: 88,797,942 (GRCm39) |
Y159N |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,645,288 (GRCm39) |
V192A |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,640,569 (GRCm39) |
S486P |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,222,912 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,327,096 (GRCm39) |
E4800D |
probably damaging |
Het |
| Mblac2 |
C |
T |
13: 81,860,095 (GRCm39) |
Q150* |
probably null |
Het |
| Mc1r |
A |
T |
8: 124,134,255 (GRCm39) |
T3S |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,176,668 (GRCm39) |
Q70* |
probably null |
Het |
| Myocd |
A |
T |
11: 65,069,856 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,909,169 (GRCm39) |
L793P |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,876,370 (GRCm39) |
T281A |
probably damaging |
Het |
| Or2m13 |
A |
T |
16: 19,226,051 (GRCm39) |
F238L |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,270,003 (GRCm39) |
T207P |
possibly damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,944 (GRCm39) |
D184G |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,060 (GRCm39) |
M88K |
probably damaging |
Het |
| Or8c13 |
T |
A |
9: 38,091,196 (GRCm39) |
T308S |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,213,660 (GRCm39) |
L1745Q |
probably damaging |
Het |
| Prdm10 |
T |
A |
9: 31,258,376 (GRCm39) |
H600Q |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,211 (GRCm39) |
L268M |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,346,039 (GRCm39) |
I219V |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,400,553 (GRCm39) |
R113* |
probably null |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,517 (GRCm39) |
T183I |
probably damaging |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,554 (GRCm39) |
M373T |
probably benign |
Het |
| Ros1 |
G |
T |
10: 52,048,966 (GRCm39) |
A88E |
probably damaging |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,834 (GRCm39) |
F251L |
probably benign |
Het |
| Skil |
A |
G |
3: 31,167,562 (GRCm39) |
Y398C |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,683,419 (GRCm39) |
M148K |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Sntn |
A |
T |
14: 13,679,103 (GRCm38) |
K92N |
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,722,876 (GRCm39) |
S296T |
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,796 (GRCm39) |
F261S |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,679,364 (GRCm39) |
|
probably null |
Het |
| Stk24 |
A |
T |
14: 121,530,866 (GRCm39) |
C363* |
probably null |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,070,262 (GRCm39) |
N387S |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,673,885 (GRCm39) |
I304L |
probably benign |
Het |
| Trim13 |
A |
G |
14: 61,842,966 (GRCm39) |
I328V |
probably benign |
Het |
| Upk2 |
A |
G |
9: 44,365,382 (GRCm39) |
V62A |
probably damaging |
Het |
| Urb2 |
A |
T |
8: 124,756,374 (GRCm39) |
K694* |
probably null |
Het |
| Vmn2r17 |
C |
A |
5: 109,574,985 (GRCm39) |
N97K |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,892 (GRCm39) |
V619D |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,387,634 (GRCm39) |
R213Q |
probably benign |
Het |
| Wnt6 |
G |
A |
1: 74,821,788 (GRCm39) |
C123Y |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
probably damaging |
Het |
| Zfp52 |
C |
T |
17: 21,781,505 (GRCm39) |
S451L |
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 |
|
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'- CTCTCAGGATAAAGATGATGTAGGC -3'
(R):5'- AAGTTAATTCCCTCATGGCCTC -3'
Sequencing Primer
(F):5'- GGCATCTAGGAATTCTTCAACCG -3'
(R):5'- TCCCAACAAGGCTTGAGGATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation