Incidental Mutation 'R2109:Rgs22'
ID |
232409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs22
|
Ensembl Gene |
ENSMUSG00000037627 |
Gene Name |
regulator of G-protein signalling 22 |
Synonyms |
|
MMRRC Submission |
040113-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2109 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 36099880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 278
(Y278*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
AlphaFold |
G3UYX5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000172831
AA Change: Y402*
|
SMART Domains |
Protein: ENSMUSP00000134259 Gene: ENSMUSG00000037627 AA Change: Y402*
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 null
Transcript: ENSMUST00000174881
AA Change: Y278*
|
SMART Domains |
Protein: ENSMUSP00000134185 Gene: ENSMUSG00000037627 AA Change: Y278*
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: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
G |
T |
7: 43,900,435 (GRCm39) |
R113S |
probably benign |
Het |
Ackr2 |
A |
T |
9: 121,738,026 (GRCm39) |
I134F |
probably damaging |
Het |
Actr3b |
T |
A |
5: 26,036,709 (GRCm39) |
I174N |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,094,847 (GRCm39) |
S2214T |
possibly damaging |
Het |
Arhgef12 |
C |
A |
9: 42,890,768 (GRCm39) |
R986L |
possibly damaging |
Het |
Brap |
G |
T |
5: 121,801,422 (GRCm39) |
S59I |
possibly damaging |
Het |
Btnl1 |
C |
T |
17: 34,598,578 (GRCm39) |
H65Y |
probably damaging |
Het |
C1s2 |
T |
C |
6: 124,612,004 (GRCm39) |
T121A |
probably damaging |
Het |
Capn1 |
T |
A |
19: 6,064,388 (GRCm39) |
Y37F |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,869,650 (GRCm39) |
K726E |
probably damaging |
Het |
Cd300lb |
G |
A |
11: 114,816,865 (GRCm39) |
S195F |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,411,264 (GRCm39) |
K307E |
probably damaging |
Het |
Chodl |
A |
C |
16: 78,738,251 (GRCm39) |
N73T |
possibly damaging |
Het |
Cimip2c |
G |
A |
5: 30,637,851 (GRCm39) |
G66E |
probably damaging |
Het |
Crnn |
A |
T |
3: 93,055,747 (GRCm39) |
M178L |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,290,110 (GRCm39) |
D221G |
probably damaging |
Het |
Dipk2a |
A |
T |
9: 94,406,498 (GRCm39) |
I303N |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,301,097 (GRCm39) |
V2338A |
probably benign |
Het |
Dnah9 |
G |
T |
11: 65,928,411 (GRCm39) |
P2086Q |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,725,346 (GRCm39) |
I486V |
probably benign |
Het |
E2f8 |
A |
G |
7: 48,524,855 (GRCm39) |
S265P |
probably damaging |
Het |
Eif1b |
A |
G |
9: 120,323,296 (GRCm39) |
D52G |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,790,153 (GRCm39) |
T602S |
probably benign |
Het |
Exoc3l2 |
A |
T |
7: 19,223,059 (GRCm39) |
|
probably benign |
Het |
Fbxl6 |
C |
A |
15: 76,421,173 (GRCm39) |
V297F |
probably damaging |
Het |
Fgr |
T |
A |
4: 132,725,786 (GRCm39) |
N398K |
probably benign |
Het |
G3bp1 |
A |
G |
11: 55,379,986 (GRCm39) |
R107G |
probably damaging |
Het |
Gp2 |
A |
T |
7: 119,052,155 (GRCm39) |
N186K |
probably benign |
Het |
Hbs1l |
T |
A |
10: 21,217,831 (GRCm39) |
L249* |
probably null |
Het |
Hmgcs2 |
T |
A |
3: 98,204,337 (GRCm39) |
L246* |
probably null |
Het |
Hsp90ab1 |
G |
T |
17: 45,880,254 (GRCm39) |
H96Q |
probably benign |
Het |
Ibtk |
C |
T |
9: 85,588,603 (GRCm39) |
V1078I |
probably benign |
Het |
Ltn1 |
T |
C |
16: 87,212,530 (GRCm39) |
D677G |
probably benign |
Het |
Lyst |
C |
T |
13: 13,887,405 (GRCm39) |
T3078I |
possibly damaging |
Het |
Mamdc4 |
A |
G |
2: 25,459,402 (GRCm39) |
F199S |
probably damaging |
Het |
Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,299,592 (GRCm39) |
T1814I |
probably damaging |
Het |
Msantd5l |
T |
A |
11: 51,145,264 (GRCm39) |
I108F |
possibly damaging |
Het |
Mttp |
A |
T |
3: 137,800,763 (GRCm39) |
F766I |
probably benign |
Het |
Nbl1 |
T |
A |
4: 138,810,915 (GRCm39) |
|
probably null |
Het |
Nmrk1 |
T |
A |
19: 18,618,802 (GRCm39) |
L118Q |
probably damaging |
Het |
Nopchap1 |
C |
T |
10: 83,201,656 (GRCm39) |
S143L |
probably damaging |
Het |
Oog3 |
A |
T |
4: 143,886,082 (GRCm39) |
L172H |
probably damaging |
Het |
Or2y11 |
T |
G |
11: 49,443,260 (GRCm39) |
S229A |
probably damaging |
Het |
Osbpl1a |
T |
G |
18: 12,892,457 (GRCm39) |
Q332P |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,243,709 (GRCm39) |
F921L |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,069,054 (GRCm39) |
S1086G |
possibly damaging |
Het |
Plekha5 |
A |
G |
6: 140,369,942 (GRCm39) |
T18A |
possibly damaging |
Het |
Pogz |
T |
A |
3: 94,786,276 (GRCm39) |
S955T |
probably benign |
Het |
Pot1b |
A |
T |
17: 55,960,413 (GRCm39) |
I639N |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,505,254 (GRCm39) |
I852T |
probably benign |
Het |
Prps1l1 |
A |
G |
12: 35,035,521 (GRCm39) |
K212R |
probably benign |
Het |
Ptpn5 |
A |
G |
7: 46,735,807 (GRCm39) |
Y304H |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,822,973 (GRCm39) |
I281T |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,333,489 (GRCm39) |
Y2899* |
probably null |
Het |
Rttn |
C |
T |
18: 89,004,197 (GRCm39) |
T397I |
possibly damaging |
Het |
Sacs |
G |
T |
14: 61,410,902 (GRCm39) |
|
probably null |
Het |
Sbf2 |
G |
T |
7: 110,060,419 (GRCm39) |
Q182K |
probably damaging |
Het |
Sec14l5 |
C |
T |
16: 4,984,968 (GRCm39) |
R105* |
probably null |
Het |
Sh2b1 |
A |
T |
7: 126,071,536 (GRCm39) |
D216E |
possibly damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,920,008 (GRCm39) |
N72S |
possibly damaging |
Het |
Slc12a1 |
A |
T |
2: 125,015,619 (GRCm39) |
I391F |
probably damaging |
Het |
Slc36a2 |
G |
A |
11: 55,072,381 (GRCm39) |
A77V |
probably damaging |
Het |
Smc2 |
A |
T |
4: 52,474,987 (GRCm39) |
I888L |
probably benign |
Het |
Smoc1 |
C |
T |
12: 81,197,450 (GRCm39) |
T194M |
probably damaging |
Het |
Sorcs1 |
C |
T |
19: 50,666,630 (GRCm39) |
G93R |
probably benign |
Het |
Sox30 |
T |
G |
11: 45,882,595 (GRCm39) |
F542V |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,206,030 (GRCm39) |
V116A |
possibly damaging |
Het |
Synj2 |
A |
G |
17: 6,063,966 (GRCm39) |
D330G |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,796,384 (GRCm39) |
S202A |
possibly damaging |
Het |
Tg |
C |
T |
15: 66,601,443 (GRCm39) |
T151I |
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,414,527 (GRCm39) |
E361G |
probably damaging |
Het |
Tnk1 |
A |
T |
11: 69,746,009 (GRCm39) |
D305E |
probably damaging |
Het |
Tpp1 |
A |
G |
7: 105,399,177 (GRCm39) |
L133P |
probably damaging |
Het |
Trappc1 |
T |
A |
11: 69,215,243 (GRCm39) |
M41K |
probably damaging |
Het |
Tsen54 |
A |
G |
11: 115,706,549 (GRCm39) |
D9G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,804,598 (GRCm39) |
I225F |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,457,298 (GRCm39) |
K313R |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,555,379 (GRCm39) |
V425A |
probably damaging |
Het |
Wbp2 |
A |
T |
11: 115,971,445 (GRCm39) |
Y153* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,861,273 (GRCm39) |
S478G |
probably benign |
Het |
Zfp354c |
T |
C |
11: 50,707,969 (GRCm39) |
E77G |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,008,496 (GRCm39) |
M154T |
probably benign |
Het |
Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
Zfp763 |
G |
T |
17: 33,238,752 (GRCm39) |
A131E |
probably benign |
Het |
Zfp931 |
A |
T |
2: 177,711,651 (GRCm39) |
V32E |
probably null |
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 |
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'- ATGGGAAGAAACAGTATTCAAACCC -3'
(R):5'- TGATAAAGTCCCGCCTGTG -3'
Sequencing Primer
(F):5'- GAAACAGTATTCAAACCCAAATAACC -3'
(R):5'- ATAAAGTCCCGCCTGTGCCTAG -3'
|
Posted On |
2014-09-18 |