Incidental Mutation 'R0026:Gnb3'
| ID |
15098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnb3
|
| Ensembl Gene |
ENSMUSG00000023439 |
| Gene Name |
guanine nucleotide binding protein (G protein), beta 3 |
| Synonyms |
|
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124811203-124817238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124814380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 135
(V135A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023958]
[ENSMUST00000024206]
[ENSMUST00000024270]
[ENSMUST00000131847]
[ENSMUST00000150120]
[ENSMUST00000151674]
[ENSMUST00000135127]
|
| AlphaFold |
Q61011 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023958
|
| SMART Domains |
Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
P4Hc
|
460 |
670 |
8.51e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024206
AA Change: V135A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
AA Change: V135A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
4.91e-8 |
SMART |
|
WD40
|
86 |
125 |
1.61e-3 |
SMART |
|
WD40
|
132 |
170 |
5.1e-6 |
SMART |
|
WD40
|
173 |
212 |
3.99e-8 |
SMART |
|
WD40
|
215 |
254 |
2.67e-9 |
SMART |
|
WD40
|
263 |
298 |
2e-1 |
SMART |
|
WD40
|
301 |
340 |
3.87e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135127
|
| SMART Domains |
Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
| Validation Efficiency |
96% (75/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal light ON response and synaptic maintenance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,101,831 (GRCm39) |
|
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,387,880 (GRCm39) |
Y37H |
probably damaging |
Het |
| Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
| Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
| Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,875,016 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
Het |
|
| Other mutations in Gnb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Gnb3
|
APN |
6 |
124,814,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01707:Gnb3
|
APN |
6 |
124,816,652 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02412:Gnb3
|
APN |
6 |
124,814,425 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02606:Gnb3
|
APN |
6 |
124,814,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02627:Gnb3
|
APN |
6 |
124,811,678 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02669:Gnb3
|
APN |
6 |
124,814,688 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0006:Gnb3
|
UTSW |
6 |
124,812,767 (GRCm39) |
unclassified |
probably benign |
|
|
R0445:Gnb3
|
UTSW |
6 |
124,814,218 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0538:Gnb3
|
UTSW |
6 |
124,812,659 (GRCm39) |
nonsense |
probably null |
|
|
R1801:Gnb3
|
UTSW |
6 |
124,812,599 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4074:Gnb3
|
UTSW |
6 |
124,813,942 (GRCm39) |
missense |
probably benign |
|
|
R6715:Gnb3
|
UTSW |
6 |
124,814,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7146:Gnb3
|
UTSW |
6 |
124,813,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7689:Gnb3
|
UTSW |
6 |
124,814,183 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7884:Gnb3
|
UTSW |
6 |
124,814,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8198:Gnb3
|
UTSW |
6 |
124,814,000 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8529:Gnb3
|
UTSW |
6 |
124,814,633 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0017:Gnb3
|
UTSW |
6 |
124,814,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-12 |
Incidental Mutation