Incidental Mutation 'R9773:Plekhg2'
| ID |
733531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhg2
|
| Ensembl Gene |
ENSMUSG00000037552 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 2 |
| Synonyms |
Clg |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R9773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28069743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 97
(P97S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092228
(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: P97S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: P97S
| 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: P96S
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: P96S
| 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: P96S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: P96S
| 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 |
probably benign
Transcript: ENSMUST00000144700
AA Change: P96S
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: P96S
| 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 |
possibly damaging
Transcript: ENSMUST00000147362
AA Change: P97S
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118217
Gene: ENSMUSG00000037552
AA Change: P97S
| 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 |
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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,668,057 (GRCm39) |
Y483H |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,508,565 (GRCm39) |
L990P |
probably damaging |
Het |
| Ankrd65 |
A |
C |
4: 155,877,424 (GRCm39) |
T312P |
probably damaging |
Het |
| Atp23 |
G |
A |
10: 126,734,763 (GRCm39) |
T103M |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,497 (GRCm39) |
S863R |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,647,371 (GRCm39) |
N992I |
|
Het |
| Cacnb2 |
A |
G |
2: 14,976,452 (GRCm39) |
E291G |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,462 (GRCm39) |
Q106R |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cngb1 |
G |
A |
8: 95,975,042 (GRCm39) |
H1144Y |
probably damaging |
Het |
| Cnot4 |
A |
T |
6: 35,056,920 (GRCm39) |
N50K |
probably damaging |
Het |
| Coasy |
T |
C |
11: 100,975,163 (GRCm39) |
L240P |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,959,803 (GRCm39) |
T12M |
probably benign |
Het |
| Exoc3l2 |
A |
G |
7: 19,203,697 (GRCm39) |
I96M |
|
Het |
| Fbn2 |
A |
G |
18: 58,143,481 (GRCm39) |
L2858P |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,977,128 (GRCm39) |
S194P |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,322,728 (GRCm39) |
L1040P |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,568 (GRCm39) |
P300S |
unknown |
Het |
| Gm10801 |
T |
G |
2: 98,494,345 (GRCm39) |
F141V |
probably benign |
Het |
| Gm21903 |
G |
A |
17: 39,353,541 (GRCm39) |
T25I |
unknown |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Hs6st3 |
A |
T |
14: 120,106,948 (GRCm39) |
D452V |
probably benign |
Het |
| Igkv5-43 |
T |
A |
6: 69,752,858 (GRCm39) |
I75F |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,789,222 (GRCm39) |
R562H |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,524,744 (GRCm39) |
D613V |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,788,365 (GRCm39) |
T363A |
probably damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,820 (GRCm39) |
I213M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,838 (GRCm39) |
H948Q |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,064,785 (GRCm39) |
R354* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,137,263 (GRCm39) |
H495Y |
probably damaging |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,118,649 (GRCm39) |
V73A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,939 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or6c69c |
T |
A |
10: 129,910,360 (GRCm39) |
I27N |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
| Pon1 |
T |
C |
6: 5,177,339 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Pth1r |
C |
A |
9: 110,556,233 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,199,806 (GRCm38) |
D848G |
probably damaging |
Het |
| Rnpepl1 |
C |
A |
1: 92,847,559 (GRCm39) |
D715E |
probably damaging |
Het |
| Serpinb3b |
C |
A |
1: 107,085,416 (GRCm39) |
K108N |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,321,754 (GRCm39) |
Y437N |
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,234,044 (GRCm39) |
T53I |
possibly damaging |
Het |
| Spag1 |
A |
G |
15: 36,234,711 (GRCm39) |
T824A |
probably benign |
Het |
| Spmip7 |
G |
A |
11: 11,438,572 (GRCm39) |
V272M |
unknown |
Het |
| Synj2 |
T |
A |
17: 6,094,232 (GRCm39) |
Y1153N |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,618,676 (GRCm39) |
I417K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Uevld |
A |
G |
7: 46,597,659 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
A |
G |
7: 9,097,806 (GRCm39) |
S96P |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,949 (GRCm39) |
N96S |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,221 (GRCm39) |
I825N |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,818,619 (GRCm39) |
M3083L |
|
Het |
| Wdr35 |
A |
G |
12: 9,039,990 (GRCm39) |
N365S |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCATCAGAGGGCCTAGGTAG -3'
(R):5'- GGAGCATTGATAGGTACTGAATCAG -3'
Sequencing Primer
(F):5'- ATCAGAGGGCCTAGGTAGTCCTG -3'
(R):5'- CATTGATAGGTACTGAATCAGACTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation