Incidental Mutation 'IGL02334:Rgs7'
| ID |
288801 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rgs7
|
| Ensembl Gene |
ENSMUSG00000026527 |
| Gene Name |
regulator of G protein signaling 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
IGL02334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
174886653-175320066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 175016788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 61
(D61N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027812]
[ENSMUST00000192227]
[ENSMUST00000194555]
[ENSMUST00000195324]
|
| AlphaFold |
O54829 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027812
AA Change: D61N
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: D61N
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
1.69e-26 |
SMART |
|
G_gamma
|
252 |
316 |
4.56e-20 |
SMART |
|
GGL
|
255 |
316 |
2.75e-27 |
SMART |
|
RGS
|
333 |
448 |
9.08e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192227
AA Change: D61N
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: D61N
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
1.69e-26 |
SMART |
|
G_gamma
|
252 |
316 |
4.56e-20 |
SMART |
|
GGL
|
255 |
316 |
2.75e-27 |
SMART |
|
RGS
|
333 |
448 |
9.08e-49 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194555
AA Change: D61N
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: D61N
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
1.69e-26 |
SMART |
|
G_gamma
|
252 |
316 |
4.56e-20 |
SMART |
|
GGL
|
255 |
316 |
2.75e-27 |
SMART |
|
RGS
|
333 |
448 |
9.08e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195324
AA Change: D61N
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: D61N
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
37 |
112 |
7.7e-29 |
SMART |
|
G_gamma
|
252 |
316 |
2.1e-24 |
SMART |
|
GGL
|
255 |
316 |
1.8e-29 |
SMART |
|
RGS
|
333 |
448 |
3.4e-51 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced exploration in a new environment, impaired glucose tolerance in males, and abnormal rod b-wave electrophysiology. Mice homozygous for a knock-out allele exhibit runting, delayed eye opening, and transient prolonged b-wave implicit time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
A |
G |
15: 36,486,079 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dhx16 |
A |
G |
17: 36,194,949 (GRCm39) |
E492G |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,747,294 (GRCm39) |
M1535T |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,121,850 (GRCm39) |
S344* |
probably null |
Het |
| F2 |
A |
T |
2: 91,463,439 (GRCm39) |
H148Q |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,373,345 (GRCm39) |
H237L |
probably benign |
Het |
| Fscn3 |
A |
T |
6: 28,428,153 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
C |
A |
6: 124,838,123 (GRCm39) |
G176C |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,946,505 (GRCm39) |
D376G |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,440,402 (GRCm39) |
K295R |
probably benign |
Het |
| Irf3 |
A |
G |
7: 44,648,134 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
T |
13: 115,001,845 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,354,662 (GRCm39) |
D386E |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,136,373 (GRCm39) |
G417V |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,455,909 (GRCm39) |
T902A |
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,018 (GRCm39) |
I220V |
probably benign |
Het |
| Or4a72 |
A |
C |
2: 89,405,668 (GRCm39) |
M134R |
possibly damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,503 (GRCm39) |
Y72* |
probably null |
Het |
| Phf10 |
T |
C |
17: 15,174,361 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,017,717 (GRCm39) |
F203S |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,124,096 (GRCm39) |
F257S |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,205,803 (GRCm39) |
H213R |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,121,508 (GRCm39) |
|
probably benign |
Het |
| Sct |
C |
A |
7: 140,858,530 (GRCm39) |
|
probably null |
Het |
| Slc17a9 |
G |
A |
2: 180,382,536 (GRCm39) |
|
probably null |
Het |
| Spire1 |
T |
C |
18: 67,639,725 (GRCm39) |
T263A |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,895,690 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
G |
T |
2: 126,649,282 (GRCm39) |
N1469K |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,402,837 (GRCm39) |
T637K |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,843,841 (GRCm39) |
C960R |
probably damaging |
Het |
| Zwint |
T |
A |
10: 72,490,815 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rgs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01450:Rgs7
|
APN |
1 |
174,913,746 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02805:Rgs7
|
APN |
1 |
174,977,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Rgs7
|
APN |
1 |
175,098,401 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0269:Rgs7
|
UTSW |
1 |
175,098,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1161:Rgs7
|
UTSW |
1 |
174,907,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Rgs7
|
UTSW |
1 |
174,907,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1840:Rgs7
|
UTSW |
1 |
174,980,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1944:Rgs7
|
UTSW |
1 |
174,980,769 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2064:Rgs7
|
UTSW |
1 |
174,949,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2114:Rgs7
|
UTSW |
1 |
174,918,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Rgs7
|
UTSW |
1 |
174,918,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Rgs7
|
UTSW |
1 |
175,016,785 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5106:Rgs7
|
UTSW |
1 |
174,904,416 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6042:Rgs7
|
UTSW |
1 |
174,977,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Rgs7
|
UTSW |
1 |
174,921,396 (GRCm39) |
missense |
probably benign |
|
|
R7689:Rgs7
|
UTSW |
1 |
174,949,296 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7814:Rgs7
|
UTSW |
1 |
174,903,635 (GRCm39) |
missense |
probably benign |
|
|
R7884:Rgs7
|
UTSW |
1 |
174,977,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8884:Rgs7
|
UTSW |
1 |
174,980,730 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1088:Rgs7
|
UTSW |
1 |
174,911,586 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation