Incidental Mutation 'R0080:Gnb5'
ID |
44245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gnb5
|
Ensembl Gene |
ENSMUSG00000032192 |
Gene Name |
guanine nucleotide binding protein (G protein), beta 5 |
Synonyms |
Gbeta5, G beta 5 |
MMRRC Submission |
038367-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R0080 (G1)
|
Quality Score |
111 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
75213570-75253158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75221636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 28
(E28V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076889]
[ENSMUST00000213990]
[ENSMUST00000215002]
[ENSMUST00000215875]
|
AlphaFold |
P62881 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076889
AA Change: E70V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076155 Gene: ENSMUSG00000032192 AA Change: E70V
Domain | Start | End | E-Value | Type |
WD40
|
94 |
133 |
3.52e-9 |
SMART |
WD40
|
136 |
175 |
9.94e-1 |
SMART |
WD40
|
184 |
223 |
9.9e-4 |
SMART |
WD40
|
226 |
267 |
2.42e-7 |
SMART |
WD40
|
270 |
309 |
1.99e-8 |
SMART |
WD40
|
312 |
353 |
5.97e-1 |
SMART |
WD40
|
356 |
395 |
6.04e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213336
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213990
AA Change: E70V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215002
AA Change: E28V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215875
AA Change: E28V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216737
|
Meta Mutation Damage Score |
0.1331 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
Validation Efficiency |
88% (175/200) |
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. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation are runty and exhibit high preweaning mortality. Survivors are apparently normal, but show prolonged photoresponses and defective adaptation in rod cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
Coro7 |
A |
T |
16: 4,448,328 (GRCm39) |
L714Q |
probably damaging |
Het |
D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
Grk6 |
T |
C |
13: 55,606,723 (GRCm39) |
S474P |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
probably damaging |
Het |
|
Other mutations in Gnb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02937:Gnb5
|
APN |
9 |
75,247,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R0747:Gnb5
|
UTSW |
9 |
75,218,752 (GRCm39) |
missense |
probably benign |
|
R0961:Gnb5
|
UTSW |
9 |
75,242,933 (GRCm39) |
missense |
probably damaging |
0.98 |
R1970:Gnb5
|
UTSW |
9 |
75,251,932 (GRCm39) |
splice site |
probably null |
|
R2196:Gnb5
|
UTSW |
9 |
75,234,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R2850:Gnb5
|
UTSW |
9 |
75,234,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R4577:Gnb5
|
UTSW |
9 |
75,250,823 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5633:Gnb5
|
UTSW |
9 |
75,251,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Gnb5
|
UTSW |
9 |
75,234,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R7310:Gnb5
|
UTSW |
9 |
75,221,570 (GRCm39) |
missense |
probably benign |
|
R7651:Gnb5
|
UTSW |
9 |
75,250,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8055:Gnb5
|
UTSW |
9 |
75,250,826 (GRCm39) |
missense |
probably benign |
0.35 |
R8925:Gnb5
|
UTSW |
9 |
75,252,236 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8927:Gnb5
|
UTSW |
9 |
75,252,236 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8996:Gnb5
|
UTSW |
9 |
75,251,805 (GRCm39) |
missense |
probably benign |
0.30 |
R9408:Gnb5
|
UTSW |
9 |
75,218,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCACTAGGCTCCCTTAGAGCCAG -3'
(R):5'- CGCAGAAAGCATGTCTGCTTCCTTC -3'
Sequencing Primer
(F):5'- ccacccccactcccatc -3'
(R):5'- GAATGTGAGCTTCTAAATCCACGC -3'
|
Posted On |
2013-06-11 |