Incidental Mutation 'R1502:Rgs22'
| ID |
169397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
039552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1502 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36080997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 705
(T705I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000172737
AA Change: T90I
|
| SMART Domains |
Protein: ENSMUSP00000133508
Gene: ENSMUSG00000037627
AA Change: T90I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
231 |
262 |
1e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172831
AA Change: T705I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: T705I
| 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: T581I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: T581I
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
G |
11: 109,865,471 (GRCm39) |
T329P |
probably damaging |
Het |
| Adamts4 |
C |
A |
1: 171,086,559 (GRCm39) |
P784T |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,630,145 (GRCm39) |
L1096P |
probably damaging |
Het |
| Ap1b1 |
A |
G |
11: 4,990,290 (GRCm39) |
S849G |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,761,747 (GRCm39) |
S1660G |
probably benign |
Het |
| Atp10b |
A |
C |
11: 43,121,174 (GRCm39) |
T946P |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,299,381 (GRCm39) |
D1103G |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,669,339 (GRCm39) |
Y102H |
probably damaging |
Het |
| Ccdc182 |
A |
G |
11: 88,185,193 (GRCm39) |
E91G |
probably benign |
Het |
| Cd200r4 |
C |
T |
16: 44,653,803 (GRCm39) |
T154M |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,881,755 (GRCm39) |
T407A |
probably benign |
Het |
| Col6a2 |
T |
C |
10: 76,450,512 (GRCm39) |
I140V |
probably benign |
Het |
| Csn3 |
C |
A |
5: 88,077,983 (GRCm39) |
T163K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,874,375 (GRCm39) |
L438* |
probably null |
Het |
| Dbr1 |
T |
C |
9: 99,464,440 (GRCm39) |
L289P |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,811,122 (GRCm39) |
R573G |
possibly damaging |
Het |
| Defb10 |
T |
C |
8: 22,348,972 (GRCm39) |
I10T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,233,069 (GRCm39) |
E136G |
possibly damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,668 (GRCm39) |
Q136R |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,214 (GRCm39) |
S625R |
probably damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,209 (GRCm39) |
D94G |
probably damaging |
Het |
| Dynlt2a2 |
A |
G |
17: 15,187,876 (GRCm39) |
F133L |
probably benign |
Het |
| E130311K13Rik |
A |
C |
3: 63,822,968 (GRCm39) |
Y225* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,422,438 (GRCm39) |
I222V |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,550,440 (GRCm39) |
L818P |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,205,626 (GRCm39) |
C1083* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,438,693 (GRCm39) |
V196I |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,435,622 (GRCm39) |
D415G |
probably benign |
Het |
| Gm4861 |
A |
C |
3: 137,256,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,155,399 (GRCm39) |
T345S |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,432,169 (GRCm39) |
S943G |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,502,743 (GRCm39) |
R460Q |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,556,872 (GRCm39) |
L629R |
possibly damaging |
Het |
| Ift52 |
G |
A |
2: 162,871,782 (GRCm39) |
|
probably null |
Het |
| Insl3 |
A |
G |
8: 72,142,876 (GRCm39) |
D79G |
probably damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
| Lag3 |
T |
C |
6: 124,886,206 (GRCm39) |
Y249C |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,097,572 (GRCm39) |
N124D |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,791,906 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,294,235 (GRCm39) |
Y299H |
probably benign |
Het |
| Lypd4 |
T |
C |
7: 24,566,253 (GRCm39) |
T24A |
probably benign |
Het |
| Magi1 |
T |
A |
6: 93,671,151 (GRCm39) |
I805F |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,418,975 (GRCm39) |
L45P |
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,310 (GRCm39) |
P1159L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,231,407 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,374,335 (GRCm39) |
N229K |
possibly damaging |
Het |
| Nova1 |
A |
G |
12: 46,767,615 (GRCm39) |
I102T |
unknown |
Het |
| Npepps |
T |
C |
11: 97,109,401 (GRCm39) |
E725G |
possibly damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,234 (GRCm39) |
M122L |
possibly damaging |
Het |
| Or13a1 |
T |
C |
6: 116,471,242 (GRCm39) |
I224T |
probably damaging |
Het |
| Or5l14 |
T |
C |
2: 87,792,379 (GRCm39) |
N286D |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,910,741 (GRCm39) |
I154T |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,784,858 (GRCm39) |
W51R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,942,007 (GRCm39) |
S149P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,339,290 (GRCm39) |
T535A |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,785,968 (GRCm39) |
L1052Q |
possibly damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,370 (GRCm39) |
L104Q |
probably benign |
Het |
| Pramel32 |
T |
A |
4: 88,546,269 (GRCm39) |
I358F |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,836,576 (GRCm39) |
W124R |
probably damaging |
Het |
| Ptk2b |
G |
A |
14: 66,400,529 (GRCm39) |
S762L |
possibly damaging |
Het |
| Ptprs |
T |
C |
17: 56,744,992 (GRCm39) |
N248S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,945,709 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
A |
T |
2: 140,231,515 (GRCm39) |
I13N |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,500,793 (GRCm39) |
T57A |
probably benign |
Het |
| Smpdl3a |
T |
G |
10: 57,685,187 (GRCm39) |
V319G |
probably damaging |
Het |
| Syt9 |
T |
C |
7: 107,035,694 (GRCm39) |
L237P |
probably damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,830 (GRCm39) |
A536E |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,777 (GRCm39) |
D558G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,453 (GRCm39) |
M173K |
probably benign |
Het |
| Tek |
A |
G |
4: 94,669,339 (GRCm39) |
I113M |
probably damaging |
Het |
| Tmem50a |
A |
T |
4: 134,636,980 (GRCm39) |
D50E |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,862 (GRCm39) |
V10E |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,681 (GRCm39) |
R189* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,578,015 (GRCm39) |
D174E |
possibly damaging |
Het |
| Zc3h10 |
A |
T |
10: 128,380,151 (GRCm39) |
M402K |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,588 (GRCm39) |
H615R |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,126 (GRCm39) |
H161P |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,917,992 (GRCm39) |
F85L |
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 |
|
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 |
|
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'- GTTCTTCTCGATCCCTACAGGCAAC -3'
(R):5'- AGCTGATTTGTGGTAGCAGCAAGG -3'
Sequencing Primer
(F):5'- GGGGCATTCTTTATTCGTAGAACAAG -3'
(R):5'- TTTGTGGTAGCAGCAAGGAAATG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation