Incidental Mutation 'RF051:Plekhg2'
| ID |
605143 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
RF051 (G1)
|
| Quality Score |
122.457 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GGTG to GG
at 28061777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092228
(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
|
| SMART Domains |
Protein: ENSMUSP00000092228
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000112881
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000113449
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 |
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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnpy3 |
CTC |
CTCATC |
17: 47,047,674 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTCCGG |
CTCCGGGTCCGG |
X: 71,313,655 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
| Gm14399 |
G |
C |
2: 174,972,994 (GRCm39) |
Q254E |
probably benign |
Het |
| Hsdl2 |
TGC |
TGCCGGAGCAGCCACAGCGGC |
4: 59,610,636 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCAAAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GGG |
GGGGCTTGAAGTGGG |
3: 37,179,990 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
CCTTCT |
CCT |
5: 25,518,477 (GRCm39) |
|
probably benign |
Het |
| Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,777 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
GC |
GCTGGCTGCC |
15: 81,954,211 (GRCm39) |
|
probably null |
Het |
| Nalf2 |
GCCGCC |
GCCGCCACCGCC |
X: 98,864,968 (GRCm39) |
|
probably benign |
Het |
| Nbea |
TTTA |
T |
3: 55,916,633 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCC |
TGGCCGCACCTGGGGCCTCGGCC |
11: 4,891,054 (GRCm39) |
|
probably benign |
Het |
| Or2b7 |
GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT |
GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT |
13: 21,739,693 (GRCm39) |
|
probably null |
Het |
| Pde3b |
GGTGGTGGTG |
GGTGGTGGTGGTG |
7: 114,134,010 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
AGCAATGGGGA |
AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA |
5: 90,756,788 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGCAGC |
AGCAGCCGCAGC |
19: 26,608,388 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GAG |
GAGCAG |
X: 98,110,130 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CTTGGC |
CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC |
18: 60,966,651 (GRCm39) |
|
probably benign |
Het |
| Triobp |
AGCCCCAGGACTCCCTGTGCCCAACGG |
AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG |
15: 78,851,234 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTCT |
9: 44,000,426 (GRCm39) |
|
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 |
|
R9773:Plekhg2
|
UTSW |
7 |
28,069,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- AGAATGACACGCCTTCTGTG -3'
(R):5'- ACAGATGAACGCGAGCCTTC -3'
Sequencing Primer
(F):5'- GACACGCCTTCTGTGTCATC -3'
(R):5'- ACTGCACGTCTTAGAGGGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation