Incidental Mutation 'IGL00815:Plekhg2'
| ID |
13049 |
| 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 # |
IGL00815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 28060294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1012
(Q1012*)
|
| 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 null
Transcript: ENSMUST00000094644
AA Change: Q988*
|
| SMART Domains |
Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: Q988*
| 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 null
Transcript: ENSMUST00000119990
AA Change: Q987*
|
| SMART Domains |
Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: Q987*
| 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 null
Transcript: ENSMUST00000121085
AA Change: Q1012*
|
| SMART Domains |
Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: Q1012*
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
| Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
| Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
| Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
probably benign |
Het |
|
| Other mutations in Plekhg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation