Incidental Mutation 'R1514:Rgs22'
| ID |
168645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
039561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1514 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 36013246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1190
(V1190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172831
AA Change: V1190G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: V1190G
| 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 |
unknown
Transcript: ENSMUST00000173018
AA Change: V179G
|
| SMART Domains |
Protein: ENSMUSP00000133703
Gene: ENSMUSG00000037627
AA Change: V179G
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
4 |
124 |
1.56e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174881
AA Change: V1066G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: V1066G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,448,729 (GRCm39) |
L147Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
C |
4: 144,504,329 (GRCm39) |
N274S |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,724,791 (GRCm39) |
T75A |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,337,597 (GRCm39) |
L495* |
probably null |
Het |
| Add1 |
T |
C |
5: 34,767,961 (GRCm39) |
I240T |
probably benign |
Het |
| Adgra2 |
C |
A |
8: 27,611,306 (GRCm39) |
S870* |
probably null |
Het |
| Amer3 |
G |
A |
1: 34,618,408 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,670 (GRCm39) |
V486D |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,494,821 (GRCm39) |
D1697E |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,338 (GRCm39) |
D282G |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,362,880 (GRCm39) |
D200G |
probably damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,967,401 (GRCm39) |
P26S |
probably benign |
Het |
| Crygf |
A |
C |
1: 65,967,197 (GRCm39) |
R102S |
possibly damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,466,585 (GRCm39) |
E404D |
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,245,237 (GRCm39) |
I105V |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,690,938 (GRCm39) |
M238V |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,114,031 (GRCm39) |
M326I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,114,661 (GRCm39) |
T1010A |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,178,148 (GRCm39) |
T284A |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,680,420 (GRCm39) |
|
probably benign |
Het |
| Gm16223 |
T |
A |
5: 42,225,298 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
T |
A |
19: 12,604,278 (GRCm39) |
M230K |
probably damaging |
Het |
| Gm5828 |
C |
A |
1: 16,839,583 (GRCm39) |
|
noncoding transcript |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifna16 |
T |
A |
4: 88,594,979 (GRCm39) |
T39S |
possibly damaging |
Het |
| Kcnc3 |
G |
A |
7: 44,245,027 (GRCm39) |
G439D |
probably damaging |
Het |
| Kif1c |
T |
C |
11: 70,596,555 (GRCm39) |
S257P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,898,510 (GRCm39) |
K456E |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,801,414 (GRCm39) |
L142P |
probably damaging |
Het |
| Lratd1 |
C |
T |
12: 14,199,864 (GRCm39) |
V288M |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,768,565 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,751,937 (GRCm39) |
D369V |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,576,734 (GRCm39) |
Y114N |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,350,935 (GRCm39) |
D126G |
possibly damaging |
Het |
| Oga |
A |
G |
19: 45,765,370 (GRCm39) |
S146P |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,474,651 (GRCm39) |
F401L |
possibly damaging |
Het |
| Or10n1 |
T |
C |
9: 39,524,992 (GRCm39) |
I43T |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,873,978 (GRCm39) |
T198A |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,381 (GRCm39) |
I222V |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,451,256 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,572 (GRCm39) |
H580Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,130,001 (GRCm39) |
H852R |
probably damaging |
Het |
| Pira1 |
G |
A |
7: 3,742,639 (GRCm39) |
T23I |
possibly damaging |
Het |
| Pou2af1 |
A |
G |
9: 51,144,508 (GRCm39) |
T141A |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,341,236 (GRCm39) |
S450G |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,378 (GRCm39) |
I893N |
probably damaging |
Het |
| Rps3a1 |
A |
G |
3: 86,045,834 (GRCm39) |
V210A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,046,224 (GRCm39) |
A114T |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Secisbp2 |
A |
G |
13: 51,836,131 (GRCm39) |
S742G |
possibly damaging |
Het |
| Selenow |
G |
T |
7: 15,654,223 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,531,334 (GRCm39) |
V226A |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 107,718,164 (GRCm39) |
N291D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,222,866 (GRCm39) |
T190A |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,817,829 (GRCm39) |
T68S |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,047,358 (GRCm39) |
L909H |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,344,414 (GRCm39) |
*154W |
probably null |
Het |
| Taar4 |
T |
A |
10: 23,836,510 (GRCm39) |
M40K |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,311,749 (GRCm39) |
L34H |
probably damaging |
Het |
| Ubxn6 |
T |
C |
17: 56,376,003 (GRCm39) |
K386R |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,821,825 (GRCm39) |
T168S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,344,667 (GRCm39) |
R2303* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,386 (GRCm39) |
T395K |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,435 (GRCm39) |
N471S |
probably benign |
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 |
|
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'- TCCCAGAAGACTACCATCTTTGCCC -3'
(R):5'- AATGCTATGCCCATGCGCTCTC -3'
Sequencing Primer
(F):5'- AAGACTACCATCTTTGCCCATTTTC -3'
(R):5'- CGCTTAACAGTGGCTTGAGAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation