Incidental Mutation 'R6005:Rgs22'
ID |
479440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs22
|
Ensembl Gene |
ENSMUSG00000037627 |
Gene Name |
regulator of G-protein signalling 22 |
Synonyms |
|
MMRRC Submission |
044425-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6005 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36010713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 1125
(K1125M)
|
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: K1249M
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134259 Gene: ENSMUSG00000037627 AA Change: K1249M
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: ENSMUST00000173018
|
SMART Domains |
Protein: ENSMUSP00000133703 Gene: ENSMUSG00000037627
Domain | Start | End | E-Value | Type |
RGS
|
4 |
124 |
1.56e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174881
AA Change: K1125M
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134185 Gene: ENSMUSG00000037627 AA Change: K1125M
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 |
0.1014 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
7530416G11Rik |
A |
T |
15: 85,378,310 (GRCm39) |
I111N |
unknown |
Het |
Adgb |
C |
T |
10: 10,271,096 (GRCm39) |
R849H |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,992,525 (GRCm39) |
V4603A |
possibly damaging |
Het |
Ank1 |
A |
G |
8: 23,622,218 (GRCm39) |
D1589G |
probably damaging |
Het |
Ankrd2 |
A |
G |
19: 42,028,554 (GRCm39) |
D70G |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,268,853 (GRCm39) |
S989P |
probably benign |
Het |
Bbs1 |
A |
T |
19: 4,953,823 (GRCm39) |
Y113* |
probably null |
Het |
Bfsp2 |
T |
G |
9: 103,325,749 (GRCm39) |
K298T |
probably damaging |
Het |
Bpi |
G |
A |
2: 158,104,400 (GRCm39) |
V168I |
possibly damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,566,819 (GRCm39) |
S921P |
probably damaging |
Het |
Clec4d |
A |
C |
6: 123,244,118 (GRCm39) |
T76P |
probably damaging |
Het |
Coq8b |
C |
T |
7: 26,956,750 (GRCm39) |
Q468* |
probably null |
Het |
Dennd6b |
T |
C |
15: 89,072,371 (GRCm39) |
E248G |
possibly damaging |
Het |
Ednra |
A |
G |
8: 78,401,556 (GRCm39) |
S245P |
possibly damaging |
Het |
Epb41l4a |
C |
T |
18: 33,961,196 (GRCm39) |
C446Y |
probably benign |
Het |
Fam221a |
A |
G |
6: 49,344,756 (GRCm39) |
|
probably benign |
Het |
Fam229a |
T |
C |
4: 129,385,296 (GRCm39) |
S76P |
probably benign |
Het |
Fryl |
C |
T |
5: 73,240,638 (GRCm39) |
D1321N |
probably damaging |
Het |
Gata3os |
T |
C |
2: 9,887,638 (GRCm39) |
|
probably benign |
Het |
Gli2 |
C |
T |
1: 118,769,794 (GRCm39) |
R586H |
probably damaging |
Het |
Gm94 |
C |
T |
18: 43,925,862 (GRCm39) |
A16T |
possibly damaging |
Het |
Gorasp2 |
T |
C |
2: 70,521,095 (GRCm39) |
V355A |
probably benign |
Het |
Grid1 |
C |
A |
14: 35,045,369 (GRCm39) |
T404N |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,284,812 (GRCm39) |
E475* |
probably null |
Het |
Gucy1a2 |
T |
C |
9: 3,865,518 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
T |
A |
10: 36,708,924 (GRCm39) |
I153N |
probably damaging |
Het |
Il11ra1 |
T |
C |
4: 41,763,887 (GRCm39) |
|
probably null |
Het |
Ireb2 |
G |
A |
9: 54,816,089 (GRCm39) |
G887S |
probably damaging |
Het |
Kdsr |
T |
C |
1: 106,662,311 (GRCm39) |
E248G |
probably benign |
Het |
Lemd2 |
C |
G |
17: 27,409,759 (GRCm39) |
R464P |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,042,333 (GRCm39) |
V246A |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,368,068 (GRCm39) |
D2231V |
possibly damaging |
Het |
Map2k5 |
C |
T |
9: 63,188,301 (GRCm39) |
D283N |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,189,927 (GRCm39) |
D433G |
possibly damaging |
Het |
Mir700 |
C |
A |
4: 135,139,618 (GRCm39) |
|
probably null |
Het |
Mroh9 |
A |
T |
1: 162,903,246 (GRCm39) |
F52L |
probably damaging |
Het |
Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
Mycbp2 |
A |
C |
14: 103,394,159 (GRCm39) |
S2691A |
probably benign |
Het |
Myorg |
T |
A |
4: 41,498,895 (GRCm39) |
H245L |
probably benign |
Het |
Nktr |
T |
A |
9: 121,577,460 (GRCm39) |
|
probably benign |
Het |
Obsl1 |
C |
A |
1: 75,468,859 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
A |
T |
2: 87,438,424 (GRCm39) |
I231F |
probably damaging |
Het |
Or52r1b |
A |
T |
7: 102,690,853 (GRCm39) |
I51F |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,407 (GRCm39) |
V108A |
probably benign |
Het |
Or7g35 |
C |
T |
9: 19,496,181 (GRCm39) |
T116I |
probably benign |
Het |
Or8c11 |
T |
C |
9: 38,289,605 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,652,789 (GRCm39) |
I162N |
possibly damaging |
Het |
Pde1c |
A |
T |
6: 56,456,187 (GRCm39) |
|
probably null |
Het |
Pds5b |
A |
G |
5: 150,693,241 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
C |
11: 8,807,113 (GRCm39) |
W1568G |
probably damaging |
Het |
Polr3c |
A |
T |
3: 96,626,784 (GRCm39) |
M258K |
possibly damaging |
Het |
Pramel23 |
T |
A |
4: 143,425,002 (GRCm39) |
H147L |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,276,417 (GRCm39) |
I349F |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,644,811 (GRCm39) |
*1177Q |
probably null |
Het |
Rnf182 |
A |
G |
13: 43,821,511 (GRCm39) |
K21E |
probably damaging |
Het |
Rpl6 |
G |
A |
5: 121,343,577 (GRCm39) |
|
probably benign |
Het |
Samsn1 |
C |
T |
16: 75,670,402 (GRCm39) |
V234I |
probably benign |
Het |
Scrib |
A |
G |
15: 75,929,600 (GRCm39) |
I1089T |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,511,737 (GRCm39) |
T1092A |
probably damaging |
Het |
Sh3bp2 |
G |
T |
5: 34,719,809 (GRCm39) |
R606L |
possibly damaging |
Het |
Sipa1 |
A |
G |
19: 5,706,229 (GRCm39) |
V367A |
probably damaging |
Het |
Slc25a44 |
C |
T |
3: 88,320,153 (GRCm39) |
E269K |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,142,430 (GRCm39) |
M353K |
possibly damaging |
Het |
Sorcs2 |
A |
G |
5: 36,176,728 (GRCm39) |
S1142P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,118,024 (GRCm39) |
F352L |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,766,174 (GRCm39) |
N541K |
probably damaging |
Het |
Tas2r113 |
G |
A |
6: 132,870,659 (GRCm39) |
R229K |
probably benign |
Het |
Tcaf3 |
A |
T |
6: 42,566,905 (GRCm39) |
I728K |
probably benign |
Het |
Tcea1 |
A |
G |
1: 4,960,996 (GRCm39) |
E167G |
probably benign |
Het |
Timeless |
G |
A |
10: 128,080,069 (GRCm39) |
R406H |
probably damaging |
Het |
Traf6 |
C |
T |
2: 101,527,029 (GRCm39) |
R260* |
probably null |
Het |
Traj31 |
C |
T |
14: 54,425,388 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,907 (GRCm39) |
V19089D |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,666,416 (GRCm39) |
S1868L |
possibly damaging |
Het |
Wdr38 |
A |
T |
2: 38,891,333 (GRCm39) |
I287F |
possibly damaging |
Het |
Wnt2 |
G |
A |
6: 18,030,322 (GRCm39) |
|
probably benign |
Het |
Wnt5b |
G |
A |
6: 119,410,615 (GRCm39) |
P288L |
probably benign |
Het |
Xkr5 |
G |
T |
8: 18,984,521 (GRCm39) |
N174K |
probably benign |
Het |
Zbtb6 |
C |
T |
2: 37,318,977 (GRCm39) |
R317Q |
probably damaging |
Het |
Zcchc7 |
AGGGG |
AGGG |
4: 44,931,218 (GRCm39) |
|
probably null |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
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 |
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'- AGCTGCTATCCTGGAAAACAAG -3'
(R):5'- TTGCCTCTTGTATACAGCGC -3'
Sequencing Primer
(F):5'- AGACATATTAGGCACGGATTCC -3'
(R):5'- GTATACAGCGCTGCTTTGC -3'
|
Posted On |
2017-06-26 |