Incidental Mutation 'R0463:Rgs22'
ID |
41524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs22
|
Ensembl Gene |
ENSMUSG00000037627 |
Gene Name |
regulator of G-protein signalling 22 |
Synonyms |
|
MMRRC Submission |
038663-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0463 (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 A
at 36093084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 396
(K396N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
AlphaFold |
G3UYX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172831
AA Change: K520N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134259 Gene: ENSMUSG00000037627 AA Change: K520N
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: K396N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134185 Gene: ENSMUSG00000037627 AA Change: K396N
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: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,884,926 (GRCm39) |
|
probably benign |
Het |
Abcd2 |
C |
T |
15: 91,043,327 (GRCm39) |
M620I |
probably benign |
Het |
Ada |
T |
A |
2: 163,572,271 (GRCm39) |
I243F |
probably benign |
Het |
Adam12 |
T |
C |
7: 133,576,145 (GRCm39) |
|
probably null |
Het |
Adarb2 |
A |
T |
13: 8,253,224 (GRCm39) |
|
probably benign |
Het |
Adk |
A |
C |
14: 21,473,604 (GRCm39) |
Q287P |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,986,771 (GRCm39) |
|
probably benign |
Het |
Aoc3 |
C |
T |
11: 101,222,432 (GRCm39) |
R223W |
probably damaging |
Het |
Aqp11 |
T |
C |
7: 97,378,228 (GRCm39) |
D229G |
probably benign |
Het |
Arhgap28 |
A |
G |
17: 68,203,220 (GRCm39) |
S78P |
probably damaging |
Het |
Bfsp2 |
T |
A |
9: 103,303,854 (GRCm39) |
E383D |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,563,191 (GRCm39) |
V251D |
possibly damaging |
Het |
Calhm1 |
C |
T |
19: 47,132,280 (GRCm39) |
V112I |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,966,554 (GRCm39) |
D508G |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,710,805 (GRCm39) |
|
probably null |
Het |
Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
Chga |
A |
T |
12: 102,529,210 (GRCm39) |
R396* |
probably null |
Het |
Cntnap3 |
T |
C |
13: 64,926,690 (GRCm39) |
E560G |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,971,759 (GRCm39) |
T3024A |
probably damaging |
Het |
Csrnp1 |
CCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTC |
9: 119,801,841 (GRCm39) |
|
probably benign |
Het |
Cysltr1 |
A |
G |
X: 105,622,261 (GRCm39) |
V75A |
possibly damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,252,323 (GRCm39) |
M448L |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,313,952 (GRCm39) |
M4140K |
probably damaging |
Het |
Dph5 |
A |
G |
3: 115,722,352 (GRCm39) |
S277G |
probably benign |
Het |
Eftud2 |
A |
T |
11: 102,755,597 (GRCm39) |
D203E |
probably damaging |
Het |
Egf |
A |
G |
3: 129,499,882 (GRCm39) |
Y252H |
probably benign |
Het |
Egf |
A |
G |
3: 129,531,198 (GRCm39) |
S126P |
probably damaging |
Het |
Faf1 |
C |
T |
4: 109,748,138 (GRCm39) |
A481V |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,153,655 (GRCm39) |
V3519D |
probably damaging |
Het |
Fbln7 |
C |
A |
2: 128,719,431 (GRCm39) |
A76E |
probably benign |
Het |
Galnt1 |
A |
T |
18: 24,387,582 (GRCm39) |
K49N |
probably benign |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Grk1 |
T |
C |
8: 13,459,279 (GRCm39) |
Y277H |
probably damaging |
Het |
Hap1 |
A |
G |
11: 100,240,131 (GRCm39) |
L555P |
probably damaging |
Het |
Ier3 |
T |
C |
17: 36,133,000 (GRCm39) |
I94T |
possibly damaging |
Het |
Il11 |
T |
C |
7: 4,779,023 (GRCm39) |
T36A |
probably damaging |
Het |
Il5ra |
A |
T |
6: 106,708,851 (GRCm39) |
D296E |
probably damaging |
Het |
Itk |
A |
T |
11: 46,222,816 (GRCm39) |
V551E |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,476 (GRCm39) |
D352E |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,071,521 (GRCm39) |
S776T |
probably benign |
Het |
Klrb1c |
T |
C |
6: 128,757,366 (GRCm39) |
E233G |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,944,804 (GRCm39) |
K12R |
possibly damaging |
Het |
Lhpp |
C |
T |
7: 132,212,406 (GRCm39) |
|
probably benign |
Het |
Lhx8 |
A |
T |
3: 154,033,808 (GRCm39) |
|
probably null |
Het |
Magel2 |
T |
A |
7: 62,027,778 (GRCm39) |
H227Q |
possibly damaging |
Het |
Man1a |
A |
G |
10: 53,950,594 (GRCm39) |
V176A |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,853,632 (GRCm39) |
M1152K |
probably benign |
Het |
Mcoln3 |
T |
A |
3: 145,846,331 (GRCm39) |
L547* |
probably null |
Het |
Myof |
T |
C |
19: 37,904,952 (GRCm39) |
D1624G |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,154,123 (GRCm39) |
V687A |
probably benign |
Het |
Nav1 |
C |
A |
1: 135,379,945 (GRCm39) |
V1586F |
possibly damaging |
Het |
Ndufb8 |
T |
C |
19: 44,538,784 (GRCm39) |
E179G |
possibly damaging |
Het |
Nfam1 |
T |
C |
15: 82,885,684 (GRCm39) |
T223A |
probably damaging |
Het |
Nrcam |
T |
A |
12: 44,598,124 (GRCm39) |
V371E |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,087,518 (GRCm39) |
Q1097R |
probably null |
Het |
Obox5 |
T |
A |
7: 15,491,571 (GRCm39) |
M37K |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,952,356 (GRCm39) |
N4270K |
probably benign |
Het |
Or4d2 |
G |
A |
11: 87,784,022 (GRCm39) |
H243Y |
probably damaging |
Het |
Or5ak25 |
T |
A |
2: 85,268,630 (GRCm39) |
S291C |
probably damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,708 (GRCm39) |
M300T |
probably benign |
Het |
Or8c15 |
G |
A |
9: 38,120,360 (GRCm39) |
A2T |
probably benign |
Het |
Or8k16 |
T |
C |
2: 85,520,183 (GRCm39) |
S137P |
possibly damaging |
Het |
Patj |
G |
A |
4: 98,562,545 (GRCm39) |
E1505K |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,726,628 (GRCm39) |
Y328* |
probably null |
Het |
Ppp1r36 |
G |
A |
12: 76,465,741 (GRCm39) |
E43K |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,668,121 (GRCm39) |
V939I |
probably damaging |
Het |
Rsrc1 |
A |
T |
3: 67,088,194 (GRCm39) |
H176L |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,492,046 (GRCm39) |
F3743L |
probably damaging |
Het |
Scn7a |
C |
T |
2: 66,506,084 (GRCm39) |
G1602R |
probably benign |
Het |
Sftpc |
A |
T |
14: 70,760,110 (GRCm39) |
V49E |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,916,612 (GRCm39) |
V430A |
probably benign |
Het |
Slco4c1 |
A |
C |
1: 96,795,645 (GRCm39) |
S138A |
possibly damaging |
Het |
Snd1 |
T |
C |
6: 28,724,955 (GRCm39) |
I501T |
probably benign |
Het |
Stxbp2 |
T |
A |
8: 3,682,559 (GRCm39) |
D49E |
probably damaging |
Het |
Sytl4 |
A |
T |
X: 132,862,936 (GRCm39) |
D16E |
probably benign |
Het |
Tbc1d9b |
G |
A |
11: 50,035,894 (GRCm39) |
G130E |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,936,452 (GRCm39) |
D1532V |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,242,778 (GRCm39) |
D243G |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,192,427 (GRCm39) |
L669S |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,072 (GRCm39) |
N201S |
probably benign |
Het |
Trdn |
A |
G |
10: 33,342,417 (GRCm39) |
|
probably null |
Het |
Trim36 |
T |
C |
18: 46,311,523 (GRCm39) |
E259G |
possibly damaging |
Het |
Trpm1 |
C |
T |
7: 63,870,002 (GRCm39) |
P436S |
probably benign |
Het |
Vmn1r183 |
T |
A |
7: 23,754,926 (GRCm39) |
L243Q |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,597,555 (GRCm39) |
S1032P |
probably damaging |
Het |
Vps37d |
T |
C |
5: 135,105,395 (GRCm39) |
E76G |
probably damaging |
Het |
Vps72 |
A |
G |
3: 95,028,615 (GRCm39) |
H202R |
probably benign |
Het |
Wdr75 |
T |
C |
1: 45,858,762 (GRCm39) |
S644P |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,770,843 (GRCm39) |
E697V |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,345,262 (GRCm39) |
D2501G |
probably benign |
Het |
Zfp472 |
T |
C |
17: 33,194,936 (GRCm39) |
W24R |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,565 (GRCm39) |
V782A |
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 |
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 |
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'- GTTACTACAGAGCACTTCACCCGC -3'
(R):5'- GGAAGATGTTCCCAGTGTCAACGTG -3'
Sequencing Primer
(F):5'- GCTGGACACCCAACCTG -3'
(R):5'- agataaatggatatGGAAGGTTCCAC -3'
|
Posted On |
2013-05-23 |