Incidental Mutation 'IGL00933:Plekhg2'
ID |
27829 |
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: 0.324)
|
Stock # |
IGL00933
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28060114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1072
(P1072S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094644]
[ENSMUST00000119990]
[ENSMUST00000121085]
[ENSMUST00000144700]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094644
AA Change: P1048S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000092228 Gene: ENSMUSG00000037552 AA Change: P1048S
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 benign
Transcript: ENSMUST00000119990
AA Change: P1047S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000112881 Gene: ENSMUSG00000037552 AA Change: P1047S
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 benign
Transcript: ENSMUST00000121085
AA Change: P1072S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000113449 Gene: ENSMUSG00000037552 AA Change: P1072S
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 benign
Transcript: ENSMUST00000144700
|
SMART Domains |
Protein: ENSMUSP00000115651 Gene: ENSMUSG00000037552
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 |
noncoding transcript
Transcript: ENSMUST00000147767
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arrdc3 |
T |
A |
13: 81,039,174 (GRCm39) |
|
probably benign |
Het |
Brca2 |
A |
G |
5: 150,465,869 (GRCm39) |
S1878G |
probably benign |
Het |
Cpa6 |
T |
C |
1: 10,407,595 (GRCm39) |
H314R |
probably benign |
Het |
Ehbp1l1 |
A |
G |
19: 5,767,961 (GRCm39) |
I1114T |
probably benign |
Het |
Eml3 |
G |
A |
19: 8,913,762 (GRCm39) |
W73* |
probably null |
Het |
Fmo4 |
G |
T |
1: 162,621,592 (GRCm39) |
Q540K |
probably benign |
Het |
Fstl4 |
G |
A |
11: 53,077,588 (GRCm39) |
G782R |
possibly damaging |
Het |
Itga11 |
T |
C |
9: 62,676,587 (GRCm39) |
I925T |
possibly damaging |
Het |
Itsn2 |
T |
G |
12: 4,757,540 (GRCm39) |
F1411C |
probably damaging |
Het |
Lmna |
A |
T |
3: 88,389,856 (GRCm39) |
C590S |
possibly damaging |
Het |
Magi3 |
A |
G |
3: 103,923,163 (GRCm39) |
Y1185H |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,935,221 (GRCm39) |
Y1516H |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,871,874 (GRCm39) |
D2306G |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,257,317 (GRCm39) |
V742A |
probably damaging |
Het |
Nol4l |
A |
G |
2: 153,319,856 (GRCm39) |
F175S |
probably damaging |
Het |
Or9k2b |
A |
T |
10: 130,016,083 (GRCm39) |
M222K |
probably benign |
Het |
Orm2 |
T |
C |
4: 63,282,389 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
T |
A |
9: 98,983,339 (GRCm39) |
T90S |
probably damaging |
Het |
Rgr |
A |
T |
14: 36,760,875 (GRCm39) |
Y227* |
probably null |
Het |
Snd1 |
T |
C |
6: 28,512,985 (GRCm39) |
|
probably null |
Het |
Zfp560 |
A |
G |
9: 20,260,104 (GRCm39) |
S253P |
probably benign |
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 |
|
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 |
IGL03249:Plekhg2
|
APN |
7 |
28,067,427 (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 |
2013-04-17 |