Incidental Mutation 'IGL03249:Plekhg2'
| ID |
414519 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhg2
|
| Ensembl Gene |
ENSMUSG00000037552 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 2 |
| Synonyms |
Clg |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
IGL03249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28067427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 281
(R281L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094644]
[ENSMUST00000119990]
[ENSMUST00000121085]
[ENSMUST00000144700]
[ENSMUST00000147362]
[ENSMUST00000147887]
[ENSMUST00000152281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094644
AA Change: R282L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: R282L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
RhoGEF
|
103 |
279 |
3.98e-49 |
SMART |
|
PH
|
305 |
410 |
3.01e-8 |
SMART |
|
low complexity region
|
463 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1246 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1320 |
1334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119990
AA Change: R281L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: R281L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
RhoGEF
|
102 |
278 |
3.98e-49 |
SMART |
|
PH
|
304 |
409 |
3.01e-8 |
SMART |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
1231 |
1245 |
N/A |
INTRINSIC |
|
low complexity region
|
1267 |
1291 |
N/A |
INTRINSIC |
|
low complexity region
|
1319 |
1333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121085
AA Change: R281L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: R281L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
RhoGEF
|
102 |
278 |
3.98e-49 |
SMART |
|
PH
|
304 |
409 |
3.01e-8 |
SMART |
|
low complexity region
|
462 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
1256 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1292 |
1316 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129145
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144700
AA Change: R281L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: R281L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
RhoGEF
|
102 |
278 |
3.98e-49 |
SMART |
|
PH
|
304 |
409 |
3.01e-8 |
SMART |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
855 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147362
|
| SMART Domains |
Protein: ENSMUSP00000118217
Gene: ENSMUSG00000037552
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
103 |
205 |
3.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147887
|
| SMART Domains |
Protein: ENSMUSP00000122050
Gene: ENSMUSG00000037552
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152281
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
A |
G |
7: 43,900,149 (GRCm39) |
Y18C |
probably damaging |
Het |
| Abcc4 |
A |
G |
14: 118,865,118 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,381,787 (GRCm39) |
K202E |
probably benign |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,303 (GRCm39) |
H437L |
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,299,846 (GRCm39) |
R1786S |
probably damaging |
Het |
| Atp2a1 |
C |
T |
7: 126,061,977 (GRCm39) |
E40K |
probably benign |
Het |
| Cdc23 |
A |
G |
18: 34,777,069 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,683,382 (GRCm39) |
D461G |
probably benign |
Het |
| Galntl6 |
G |
T |
8: 58,230,210 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,106,814 (GRCm39) |
Y583* |
probably null |
Het |
| Or11g7 |
T |
C |
14: 50,690,668 (GRCm39) |
V53A |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,434,812 (GRCm39) |
D292G |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,471,001 (GRCm39) |
M4594K |
probably benign |
Het |
| Sec22a |
T |
C |
16: 35,168,133 (GRCm39) |
Y126C |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,993,988 (GRCm39) |
T348A |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,303,182 (GRCm39) |
E150G |
probably benign |
Het |
| Ttc8 |
T |
G |
12: 98,910,080 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,683,701 (GRCm39) |
N105K |
probably damaging |
Het |
|
| Other mutations in Plekhg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Plekhg2
|
APN |
7 |
28,060,294 (GRCm39) |
nonsense |
probably null |
|
|
IGL00933:Plekhg2
|
APN |
7 |
28,060,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02037:Plekhg2
|
APN |
7 |
28,068,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02103:Plekhg2
|
APN |
7 |
28,059,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Plekhg2
|
APN |
7 |
28,059,900 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02892:Plekhg2
|
APN |
7 |
28,062,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Plekhg2
|
UTSW |
7 |
28,069,908 (GRCm39) |
missense |
probably benign |
|
|
R1134:Plekhg2
|
UTSW |
7 |
28,061,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1619:Plekhg2
|
UTSW |
7 |
28,067,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Plekhg2
|
UTSW |
7 |
28,059,760 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4043:Plekhg2
|
UTSW |
7 |
28,064,144 (GRCm39) |
unclassified |
probably benign |
|
|
R4117:Plekhg2
|
UTSW |
7 |
28,060,313 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4296:Plekhg2
|
UTSW |
7 |
28,070,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Plekhg2
|
UTSW |
7 |
28,067,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5376:Plekhg2
|
UTSW |
7 |
28,062,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5378:Plekhg2
|
UTSW |
7 |
28,062,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5523:Plekhg2
|
UTSW |
7 |
28,069,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5545:Plekhg2
|
UTSW |
7 |
28,061,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Plekhg2
|
UTSW |
7 |
28,067,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Plekhg2
|
UTSW |
7 |
28,064,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6017:Plekhg2
|
UTSW |
7 |
28,062,309 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6088:Plekhg2
|
UTSW |
7 |
28,060,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6912:Plekhg2
|
UTSW |
7 |
28,059,684 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7258:Plekhg2
|
UTSW |
7 |
28,064,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7530:Plekhg2
|
UTSW |
7 |
28,061,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Plekhg2
|
UTSW |
7 |
28,064,741 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8217:Plekhg2
|
UTSW |
7 |
28,067,717 (GRCm39) |
missense |
probably null |
1.00 |
|
R8441:Plekhg2
|
UTSW |
7 |
28,060,291 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8855:Plekhg2
|
UTSW |
7 |
28,069,526 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8877:Plekhg2
|
UTSW |
7 |
28,060,278 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9234:Plekhg2
|
UTSW |
7 |
28,064,215 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9464:Plekhg2
|
UTSW |
7 |
28,062,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Plekhg2
|
UTSW |
7 |
28,064,249 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9593:Plekhg2
|
UTSW |
7 |
28,059,710 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9773:Plekhg2
|
UTSW |
7 |
28,069,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF051:Plekhg2
|
UTSW |
7 |
28,061,777 (GRCm39) |
frame shift |
probably null |
|
|
Z1186:Plekhg2
|
UTSW |
7 |
28,070,727 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Plekhg2
|
UTSW |
7 |
28,062,360 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2016-08-02 |
Incidental Mutation