Incidental Mutation 'IGL00916:Rgs2'
| ID |
26630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rgs2
|
| Ensembl Gene |
ENSMUSG00000026360 |
| Gene Name |
regulator of G-protein signaling 2 |
| Synonyms |
GOS8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
IGL00916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
143875076-143879887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143877967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 78
(I78F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027606]
[ENSMUST00000127206]
[ENSMUST00000153527]
|
| AlphaFold |
O08849 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027606
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127206
AA Change: I110F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115558
Gene: ENSMUSG00000026360
AA Change: I110F
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
83 |
199 |
4.5e-54 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134817
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153527
AA Change: I78F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140548
Gene: ENSMUSG00000026360
AA Change: I78F
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
130 |
1.6e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]
PHENOTYPE: Heterozygous and homozygous mice for one allele display equivalent levels of blood pressure elevation, renovascular defects, persistent constriction of the resistance vasculature, and prolonged response of the vasculature to vasoconstrictors in vivo. Mice homozygous for another allele appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,851 (GRCm39) |
Q762L |
probably benign |
Het |
| Aldh1a1 |
T |
C |
19: 20,597,361 (GRCm39) |
V114A |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,833,960 (GRCm39) |
I459V |
probably benign |
Het |
| Atad5 |
C |
T |
11: 80,009,826 (GRCm39) |
P1199S |
probably damaging |
Het |
| Bmp10 |
T |
C |
6: 87,406,142 (GRCm39) |
F43S |
possibly damaging |
Het |
| Cd96 |
T |
C |
16: 45,861,675 (GRCm39) |
E505G |
probably benign |
Het |
| Eapp |
T |
C |
12: 54,739,593 (GRCm39) |
T75A |
possibly damaging |
Het |
| Emilin1 |
T |
C |
5: 31,071,246 (GRCm39) |
Y10H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,284,612 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,113,923 (GRCm39) |
I1089V |
possibly damaging |
Het |
| H6pd |
C |
A |
4: 150,078,925 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,238,548 (GRCm39) |
F544L |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,450,915 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ilrun |
A |
G |
17: 27,986,893 (GRCm39) |
Y278H |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,389 (GRCm39) |
E287G |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,461,252 (GRCm39) |
D735G |
probably damaging |
Het |
| Mast2 |
A |
T |
4: 116,184,830 (GRCm39) |
M240K |
possibly damaging |
Het |
| Mreg |
T |
A |
1: 72,203,291 (GRCm39) |
T96S |
probably benign |
Het |
| Mta2 |
A |
T |
19: 8,924,465 (GRCm39) |
M220L |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,528,719 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,939 (GRCm39) |
N699I |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,828,534 (GRCm39) |
I95S |
probably benign |
Het |
| Ndufa13 |
A |
G |
8: 70,347,069 (GRCm39) |
|
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,411,130 (GRCm39) |
|
probably benign |
Het |
| Parp8 |
T |
A |
13: 117,063,859 (GRCm39) |
I85F |
probably damaging |
Het |
| Rpia |
C |
T |
6: 70,752,086 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
C |
10: 42,688,453 (GRCm39) |
S488P |
possibly damaging |
Het |
| Tfcp2 |
T |
G |
15: 100,418,559 (GRCm39) |
H201P |
probably damaging |
Het |
| Tnfaip2 |
T |
G |
12: 111,419,983 (GRCm39) |
I705R |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,960,054 (GRCm39) |
N554S |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,877 (GRCm39) |
S351P |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,737,397 (GRCm39) |
N264Y |
probably damaging |
Het |
|
| Other mutations in Rgs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0189:Rgs2
|
UTSW |
1 |
143,878,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0866:Rgs2
|
UTSW |
1 |
143,877,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Rgs2
|
UTSW |
1 |
143,877,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4005:Rgs2
|
UTSW |
1 |
143,877,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4654:Rgs2
|
UTSW |
1 |
143,878,650 (GRCm39) |
intron |
probably benign |
|
|
R5144:Rgs2
|
UTSW |
1 |
143,877,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6125:Rgs2
|
UTSW |
1 |
143,879,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Rgs2
|
UTSW |
1 |
143,877,886 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8831:Rgs2
|
UTSW |
1 |
143,877,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Rgs2
|
UTSW |
1 |
143,877,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Rgs2
|
UTSW |
1 |
143,877,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Rgs2
|
UTSW |
1 |
143,878,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Rgs2
|
UTSW |
1 |
143,877,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-04-17 |
Incidental Mutation