Incidental Mutation 'R4907:Rgs22'
| ID |
379136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs22
|
| Ensembl Gene |
ENSMUSG00000037627 |
| Gene Name |
regulator of G-protein signalling 22 |
| Synonyms |
|
| MMRRC Submission |
042509-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36009625-36140546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36087570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 573
(L573F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172831]
[ENSMUST00000174881]
|
| AlphaFold |
G3UYX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172737
|
| SMART Domains |
Protein: ENSMUSP00000133508
Gene: ENSMUSG00000037627
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RGS
|
231 |
262 |
1e-13 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172831
AA Change: L573F
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: L573F
| 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 |
possibly damaging
Transcript: ENSMUST00000174881
AA Change: L449F
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: L449F
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
98% (89/91) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
G |
T |
1: 57,422,350 (GRCm39) |
G242V |
probably damaging |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,957 (GRCm39) |
E161G |
probably benign |
Het |
| Abcc5 |
A |
G |
16: 20,195,296 (GRCm39) |
S734P |
possibly damaging |
Het |
| Actn1 |
T |
G |
12: 80,228,188 (GRCm39) |
H394P |
probably damaging |
Het |
| Adam8 |
A |
T |
7: 139,569,286 (GRCm39) |
D144E |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,510,824 (GRCm39) |
N514K |
probably damaging |
Het |
| Ankrd50 |
T |
A |
3: 38,509,122 (GRCm39) |
K1082* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,418,517 (GRCm39) |
I602V |
possibly damaging |
Het |
| Baz2a |
A |
G |
10: 127,946,677 (GRCm39) |
T64A |
probably damaging |
Het |
| Btbd19 |
A |
G |
4: 116,977,764 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,028,998 (GRCm39) |
S1148T |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,284,007 (GRCm39) |
D103E |
probably benign |
Het |
| Cd209d |
T |
C |
8: 3,927,948 (GRCm39) |
N52S |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,066,053 (GRCm39) |
Y776N |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,299,140 (GRCm39) |
V101A |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,277,742 (GRCm39) |
V60A |
probably benign |
Het |
| Clec10a |
G |
A |
11: 70,060,797 (GRCm39) |
G183D |
probably benign |
Het |
| Cnga3 |
T |
C |
1: 37,281,023 (GRCm39) |
|
probably null |
Het |
| Cts3 |
A |
T |
13: 61,714,634 (GRCm39) |
F224I |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,472 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
A |
G |
16: 36,790,064 (GRCm39) |
Y349H |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Gm10029 |
A |
T |
13: 6,712,592 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14399 |
T |
A |
2: 174,973,182 (GRCm39) |
|
probably benign |
Het |
| Gm9932 |
T |
C |
5: 100,347,014 (GRCm39) |
|
noncoding transcript |
Het |
| Immp1l |
A |
G |
2: 105,767,462 (GRCm39) |
Y107C |
probably damaging |
Het |
| Ism1 |
G |
T |
2: 139,520,672 (GRCm39) |
G28V |
probably benign |
Het |
| Klf1 |
C |
A |
8: 85,629,814 (GRCm39) |
S213* |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,188 (GRCm39) |
E329G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,040,942 (GRCm39) |
N1460K |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,744,800 (GRCm39) |
Y932* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,866,877 (GRCm39) |
I955V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,312,899 (GRCm39) |
R7G |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,329,275 (GRCm39) |
E1152G |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,811,677 (GRCm39) |
|
noncoding transcript |
Het |
| Mical3 |
T |
A |
6: 120,984,259 (GRCm39) |
M206L |
probably benign |
Het |
| Mndal |
T |
G |
1: 173,690,256 (GRCm39) |
N358T |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,889 (GRCm39) |
S824P |
possibly damaging |
Het |
| Ndufb2 |
T |
C |
6: 39,573,554 (GRCm39) |
|
probably benign |
Het |
| Nfatc3 |
C |
A |
8: 106,806,359 (GRCm39) |
H401Q |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,401,066 (GRCm39) |
V810A |
unknown |
Het |
| Nt5c2 |
A |
G |
19: 46,884,978 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,270 (GRCm39) |
I71F |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,011,955 (GRCm39) |
M277K |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,241 (GRCm39) |
M186V |
possibly damaging |
Het |
| Or52h9 |
A |
G |
7: 104,202,518 (GRCm39) |
R131G |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,157 (GRCm39) |
D181G |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,536,005 (GRCm39) |
|
probably null |
Het |
| Pck1 |
C |
T |
2: 172,998,816 (GRCm39) |
T358I |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,065 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
| Pgr |
G |
A |
9: 8,947,044 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,367,475 (GRCm39) |
V1224E |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,581 (GRCm39) |
V487A |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,450 (GRCm39) |
D2956G |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,390,703 (GRCm39) |
|
probably null |
Het |
| Rufy3 |
T |
G |
5: 88,732,051 (GRCm39) |
I18S |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,503,505 (GRCm39) |
L393P |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,506,259 (GRCm39) |
I214V |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,328,491 (GRCm39) |
Q595* |
probably null |
Het |
| Spata21 |
T |
A |
4: 140,824,432 (GRCm39) |
|
probably null |
Het |
| Ss18l1 |
G |
T |
2: 179,705,192 (GRCm39) |
|
probably null |
Het |
| Tmem163 |
A |
T |
1: 127,447,107 (GRCm39) |
L176H |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,009,668 (GRCm39) |
|
probably null |
Het |
| Tpsab1 |
T |
A |
17: 25,562,436 (GRCm39) |
Y297F |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,538 (GRCm39) |
T450A |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Txndc11 |
A |
T |
16: 10,906,398 (GRCm39) |
H377Q |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,510,355 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,770,348 (GRCm39) |
N547D |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
| Wdr33 |
T |
C |
18: 32,040,046 (GRCm39) |
*1331Q |
probably null |
Het |
| Wdr90 |
T |
A |
17: 26,079,624 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,908,069 (GRCm39) |
M903V |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,519,986 (GRCm39) |
S369R |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,319,287 (GRCm39) |
F172S |
possibly damaging |
Het |
| Zfp821 |
A |
G |
8: 110,450,625 (GRCm39) |
E55G |
probably benign |
Het |
| Zfp964 |
T |
C |
8: 70,115,972 (GRCm39) |
Y191H |
possibly damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,621,646 (GRCm39) |
T250A |
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 |
|
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'- TCTTCTAACTTAGAGCAGGCAGG -3'
(R):5'- TTAGCAGGAAGTGGGCTGAC -3'
Sequencing Primer
(F):5'- AGGTCACTCCTGAGCCTCTAATATAC -3'
(R):5'- CTGACGGTTGAAATCTAGAGGCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation