Incidental Mutation 'R4956:Plekhg2'
ID |
381578 |
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 |
042553-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.324)
|
Stock # |
R4956 (G1)
|
Quality Score |
157 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 28067780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 223
(L223R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094644]
[ENSMUST00000119990]
[ENSMUST00000121085]
[ENSMUST00000144700]
[ENSMUST00000147362]
[ENSMUST00000152281]
[ENSMUST00000147887]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094644
AA Change: L224R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092228 Gene: ENSMUSG00000037552 AA Change: L224R
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: L223R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112881 Gene: ENSMUSG00000037552 AA Change: L223R
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: L223R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113449 Gene: ENSMUSG00000037552 AA Change: L223R
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 |
probably damaging
Transcript: ENSMUST00000144700
AA Change: L223R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115651 Gene: ENSMUSG00000037552 AA Change: L223R
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: ENSMUST00000152281
|
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 |
|
Meta Mutation Damage Score |
0.9524 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
4930562C15Rik |
A |
G |
16: 4,672,816 (GRCm39) |
K866E |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,931,879 (GRCm39) |
M49V |
probably benign |
Het |
Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,599,643 (GRCm39) |
F583L |
probably benign |
Het |
Atxn7l3b |
A |
G |
10: 112,764,501 (GRCm39) |
C43R |
probably damaging |
Het |
Axin2 |
T |
C |
11: 108,833,904 (GRCm39) |
V617A |
probably damaging |
Het |
Bltp3a |
T |
A |
17: 28,108,958 (GRCm39) |
|
probably null |
Het |
Brd1 |
A |
T |
15: 88,614,316 (GRCm39) |
F193Y |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,420,221 (GRCm39) |
S141G |
probably damaging |
Het |
Chst9 |
A |
T |
18: 15,851,045 (GRCm39) |
F7Y |
probably damaging |
Het |
Cpn2 |
T |
A |
16: 30,079,233 (GRCm39) |
Q156L |
possibly damaging |
Het |
Dcaf6 |
A |
T |
1: 165,216,354 (GRCm39) |
D416E |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Eif2s3y |
A |
G |
Y: 1,023,407 (GRCm39) |
T430A |
possibly damaging |
Het |
Enah |
G |
A |
1: 181,745,854 (GRCm39) |
T401I |
probably damaging |
Het |
Esp38 |
T |
G |
17: 40,266,053 (GRCm39) |
I54R |
probably damaging |
Het |
Ffar4 |
C |
T |
19: 38,086,028 (GRCm39) |
R152W |
probably benign |
Het |
Flvcr1 |
A |
G |
1: 190,758,383 (GRCm39) |
|
probably benign |
Het |
Fzd9 |
G |
A |
5: 135,278,796 (GRCm39) |
A363V |
probably damaging |
Het |
Gadl1 |
T |
A |
9: 115,869,987 (GRCm39) |
I451N |
probably benign |
Het |
Hmg20a |
A |
G |
9: 56,388,948 (GRCm39) |
T172A |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,742,885 (GRCm39) |
T1695M |
probably damaging |
Het |
Ipo13 |
G |
A |
4: 117,758,768 (GRCm39) |
A699V |
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,331,960 (GRCm39) |
|
probably null |
Het |
Klra17 |
A |
G |
6: 129,850,279 (GRCm39) |
L57P |
probably damaging |
Het |
Map3k8 |
A |
C |
18: 4,339,530 (GRCm39) |
D280E |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,524,675 (GRCm39) |
F662L |
probably damaging |
Het |
Ncor1 |
T |
A |
11: 62,231,431 (GRCm39) |
H792L |
probably damaging |
Het |
Nlrx1 |
T |
A |
9: 44,173,909 (GRCm39) |
K431* |
probably null |
Het |
Nos1 |
A |
G |
5: 118,085,575 (GRCm39) |
N1301S |
probably benign |
Het |
Obp2b |
A |
G |
2: 25,627,087 (GRCm39) |
T7A |
probably damaging |
Het |
Odc1 |
T |
C |
12: 17,597,958 (GRCm39) |
I95T |
probably damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
Or4c127 |
G |
A |
2: 89,833,187 (GRCm39) |
V146M |
probably benign |
Het |
Or5b97 |
C |
T |
19: 12,878,963 (GRCm39) |
M60I |
probably damaging |
Het |
Or6ae1 |
A |
G |
7: 139,741,993 (GRCm39) |
I290T |
possibly damaging |
Het |
Or6c1 |
A |
T |
10: 129,517,968 (GRCm39) |
F213L |
probably benign |
Het |
Pcif1 |
A |
T |
2: 164,731,610 (GRCm39) |
Q521L |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,018,772 (GRCm39) |
N270D |
probably damaging |
Het |
Ppp1r37 |
A |
T |
7: 19,266,636 (GRCm39) |
L417* |
probably null |
Het |
Psmd6 |
C |
T |
14: 14,116,166 (GRCm38) |
V141I |
probably benign |
Het |
Rcn1 |
A |
T |
2: 105,225,121 (GRCm39) |
Y111* |
probably null |
Het |
Rell2 |
G |
A |
18: 38,090,758 (GRCm39) |
R145H |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,745,426 (GRCm39) |
K614R |
probably damaging |
Het |
Scart2 |
A |
G |
7: 139,878,275 (GRCm39) |
I1001V |
probably benign |
Het |
Shbg |
C |
T |
11: 69,508,045 (GRCm39) |
E107K |
probably damaging |
Het |
Slc30a3 |
G |
A |
5: 31,244,247 (GRCm39) |
P345L |
possibly damaging |
Het |
Tchp |
A |
C |
5: 114,857,681 (GRCm39) |
E391D |
probably damaging |
Het |
Timeless |
A |
G |
10: 128,077,520 (GRCm39) |
D200G |
probably damaging |
Het |
Tspear |
A |
G |
10: 77,700,601 (GRCm39) |
T144A |
possibly damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Vgll3 |
T |
C |
16: 65,624,820 (GRCm39) |
V56A |
possibly damaging |
Het |
Vmn2r71 |
C |
T |
7: 85,268,436 (GRCm39) |
T213I |
probably benign |
Het |
Wtap |
T |
C |
17: 13,186,423 (GRCm39) |
T375A |
probably benign |
Het |
Yipf2 |
T |
G |
9: 21,503,204 (GRCm39) |
T88P |
probably damaging |
Het |
Zfp382 |
T |
A |
7: 29,830,979 (GRCm39) |
D89E |
probably benign |
Het |
Zfp955b |
C |
T |
17: 33,524,209 (GRCm39) |
|
probably benign |
Het |
Zpr1 |
C |
T |
9: 46,185,961 (GRCm39) |
T144I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTCATCCAGCAGGGTAGAAG -3'
(R):5'- TGACCTGATCATCCCTGACC -3'
Sequencing Primer
(F):5'- CATCCAGCAGGGTAGAAGGATGG -3'
(R):5'- GATCATCCCTGACCCTGGC -3'
|
Posted On |
2016-04-27 |