Incidental Mutation 'R2294:G3bp2'
ID |
245094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G3bp2
|
Ensembl Gene |
ENSMUSG00000029405 |
Gene Name |
G3BP stress granule assembly factor 2 |
Synonyms |
G3BP, E430034L04Rik, G3BP2 |
MMRRC Submission |
040293-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2294 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92205887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 290
(R290C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000202258]
|
AlphaFold |
P97379 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113127
AA Change: R257C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108752 Gene: ENSMUSG00000029405 AA Change: R257C
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
133 |
8.4e-34 |
PFAM |
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
low complexity region
|
254 |
279 |
N/A |
INTRINSIC |
RRM
|
299 |
372 |
6.07e-14 |
SMART |
low complexity region
|
376 |
427 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158087
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164378
AA Change: R290C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128353 Gene: ENSMUSG00000029405 AA Change: R290C
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
133 |
5.5e-36 |
PFAM |
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
RRM
|
332 |
405 |
6.07e-14 |
SMART |
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167918
AA Change: R257C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132469 Gene: ENSMUSG00000029405 AA Change: R257C
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
133 |
8.4e-34 |
PFAM |
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
low complexity region
|
254 |
279 |
N/A |
INTRINSIC |
RRM
|
299 |
372 |
6.07e-14 |
SMART |
low complexity region
|
376 |
427 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169094
AA Change: R290C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128244 Gene: ENSMUSG00000029405 AA Change: R290C
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
133 |
1.1e-34 |
PFAM |
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
RRM
|
332 |
405 |
6.07e-14 |
SMART |
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201824
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202258
AA Change: R290C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144456 Gene: ENSMUSG00000029405 AA Change: R290C
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
133 |
5.5e-36 |
PFAM |
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
RRM
|
332 |
405 |
6.07e-14 |
SMART |
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202352
|
Meta Mutation Damage Score |
0.2116 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
C |
T |
15: 98,495,322 (GRCm39) |
V673I |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Chchd3 |
T |
C |
6: 32,829,122 (GRCm39) |
E166G |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,760,172 (GRCm39) |
S135T |
probably benign |
Het |
Dxo |
G |
A |
17: 35,057,962 (GRCm39) |
|
probably null |
Het |
Fbxw18 |
A |
G |
9: 109,505,865 (GRCm39) |
S469P |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,026,591 (GRCm39) |
L103P |
probably damaging |
Het |
Lrig3 |
C |
T |
10: 125,802,363 (GRCm39) |
R7* |
probably null |
Het |
Lrp6 |
A |
G |
6: 134,434,705 (GRCm39) |
C1333R |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,680 (GRCm39) |
N154I |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,200,155 (GRCm39) |
D252E |
probably damaging |
Het |
Nos3 |
T |
A |
5: 24,569,855 (GRCm39) |
V7E |
probably damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,312 (GRCm39) |
L213P |
probably damaging |
Het |
Osbpl6 |
A |
T |
2: 76,407,423 (GRCm39) |
D446V |
possibly damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,513 (GRCm39) |
P159H |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,343,003 (GRCm39) |
T160I |
probably damaging |
Het |
Prelid3a |
C |
T |
18: 67,605,941 (GRCm39) |
T16M |
probably damaging |
Het |
Prl7b1 |
A |
T |
13: 27,786,854 (GRCm39) |
M125K |
possibly damaging |
Het |
Rars1 |
C |
A |
11: 35,708,363 (GRCm39) |
|
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,200,991 (GRCm39) |
T235A |
probably benign |
Het |
Slc38a2 |
C |
A |
15: 96,589,643 (GRCm39) |
V363L |
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
Tgfb3 |
T |
C |
12: 86,116,684 (GRCm39) |
N118S |
probably benign |
Het |
Tmem175 |
T |
C |
5: 108,786,525 (GRCm39) |
|
probably benign |
Het |
Tmem232 |
A |
T |
17: 65,757,436 (GRCm39) |
N252K |
probably benign |
Het |
Trappc8 |
G |
T |
18: 20,999,211 (GRCm39) |
C305* |
probably null |
Het |
Tyro3 |
T |
C |
2: 119,636,126 (GRCm39) |
V223A |
probably damaging |
Het |
Yipf2 |
C |
T |
9: 21,501,177 (GRCm39) |
V74M |
probably damaging |
Het |
|
Other mutations in G3bp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00687:G3bp2
|
APN |
5 |
92,213,707 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02124:G3bp2
|
APN |
5 |
92,221,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02519:G3bp2
|
APN |
5 |
92,214,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03146:G3bp2
|
APN |
5 |
92,214,399 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03183:G3bp2
|
APN |
5 |
92,202,905 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03195:G3bp2
|
APN |
5 |
92,216,367 (GRCm39) |
splice site |
probably benign |
|
IGL03385:G3bp2
|
APN |
5 |
92,216,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:G3bp2
|
UTSW |
5 |
92,221,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1067:G3bp2
|
UTSW |
5 |
92,211,187 (GRCm39) |
splice site |
probably benign |
|
R1621:G3bp2
|
UTSW |
5 |
92,204,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R3698:G3bp2
|
UTSW |
5 |
92,204,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4159:G3bp2
|
UTSW |
5 |
92,212,260 (GRCm39) |
missense |
probably benign |
0.00 |
R4195:G3bp2
|
UTSW |
5 |
92,203,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R4754:G3bp2
|
UTSW |
5 |
92,202,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5518:G3bp2
|
UTSW |
5 |
92,216,347 (GRCm39) |
missense |
probably benign |
0.00 |
R5680:G3bp2
|
UTSW |
5 |
92,216,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R5937:G3bp2
|
UTSW |
5 |
92,203,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R8769:G3bp2
|
UTSW |
5 |
92,231,356 (GRCm39) |
intron |
probably benign |
|
R8945:G3bp2
|
UTSW |
5 |
92,216,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:G3bp2
|
UTSW |
5 |
92,214,388 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGCAGCATATCCCTATCTAAG -3'
(R):5'- CCCTACAGTCCTAGCTTGGTAC -3'
Sequencing Primer
(F):5'- AGTAATCTGATCTTCACACTCGGAC -3'
(R):5'- CAGTCCTAGCTTGGTACAGAATATCC -3'
|
Posted On |
2014-10-30 |