Incidental Mutation 'R5667:Plekhg2'
ID |
444473 |
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 |
043310-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.324)
|
Stock # |
R5667 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28067064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 356
(I356N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115651
(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: I357N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092228 Gene: ENSMUSG00000037552 AA Change: I357N
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: I356N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112881 Gene: ENSMUSG00000037552 AA Change: I356N
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: I356N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113449 Gene: ENSMUSG00000037552 AA Change: I356N
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: I356N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115651 Gene: ENSMUSG00000037552 AA Change: I356N
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
|
Meta Mutation Damage Score |
0.8289 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Adamts16 |
A |
T |
13: 70,984,494 (GRCm39) |
Y56* |
probably null |
Het |
Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,673,753 (GRCm39) |
D3116G |
probably damaging |
Het |
Arhgap24 |
T |
G |
5: 102,994,037 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,714,994 (GRCm39) |
C86Y |
probably damaging |
Het |
Atxn1 |
T |
C |
13: 45,710,853 (GRCm39) |
K693R |
probably benign |
Het |
Bltp1 |
A |
T |
3: 36,971,826 (GRCm39) |
T520S |
probably benign |
Het |
Btbd10 |
T |
C |
7: 112,931,931 (GRCm39) |
K165R |
probably damaging |
Het |
Capn11 |
C |
T |
17: 45,950,600 (GRCm39) |
R293Q |
possibly damaging |
Het |
Chordc1 |
T |
G |
9: 18,206,628 (GRCm39) |
F33V |
probably damaging |
Het |
Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,523,478 (GRCm39) |
T90I |
probably benign |
Het |
Cyp4v3 |
G |
T |
8: 45,761,572 (GRCm39) |
T417K |
possibly damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
Foxa1 |
A |
T |
12: 57,589,081 (GRCm39) |
S380T |
probably benign |
Het |
Foxi2 |
A |
T |
7: 135,012,668 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
Gpr45 |
A |
G |
1: 43,072,218 (GRCm39) |
Y287C |
probably damaging |
Het |
H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
A |
7: 125,442,627 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
Lmbr1l |
A |
C |
15: 98,805,489 (GRCm39) |
D337E |
possibly damaging |
Het |
Lrrn3 |
A |
C |
12: 41,502,297 (GRCm39) |
S673R |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
Mycn |
A |
T |
12: 12,990,045 (GRCm39) |
M117K |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
Nod1 |
T |
C |
6: 54,910,561 (GRCm39) |
T869A |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
Rpl36al |
G |
A |
12: 69,229,897 (GRCm39) |
P5L |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,774,722 (GRCm39) |
W1145R |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,599,148 (GRCm39) |
|
probably null |
Het |
Styxl1 |
A |
G |
5: 135,785,977 (GRCm39) |
|
probably null |
Het |
Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
Trpv4 |
A |
G |
5: 114,772,617 (GRCm39) |
L371P |
probably damaging |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCGTTAATGTTGTTTTAATCAGGC -3'
(R):5'- AACCTGGGCCTGTCTCTATG -3'
Sequencing Primer
(F):5'- AGCCCAGGTTAGTCTTGAAC -3'
(R):5'- CTATGCCTGATGTGGTCCCAG -3'
|
Posted On |
2016-11-09 |