Incidental Mutation 'R9561:Plekhg2'
| ID |
721005 |
| 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 # |
R9561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28059029-28072024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 28064249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 431
(A431P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094644]
[ENSMUST00000119990]
[ENSMUST00000121085]
[ENSMUST00000144700]
[ENSMUST00000147362]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094644
AA Change: A431P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: A431P
| 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: A430P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: A430P
| 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: A430P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: A430P
| 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: A430P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: A430P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,680,980 (GRCm39) |
I106V |
possibly damaging |
Het |
| Aars1 |
C |
A |
8: 111,763,615 (GRCm39) |
F18L |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,837,535 (GRCm39) |
T473I |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,524 (GRCm39) |
I384N |
probably damaging |
Het |
| Atg16l2 |
G |
A |
7: 100,948,248 (GRCm39) |
Q99* |
probably null |
Het |
| Bptf |
A |
T |
11: 106,964,954 (GRCm39) |
Y1413* |
probably null |
Het |
| Cat |
T |
C |
2: 103,307,250 (GRCm39) |
T28A |
probably damaging |
Het |
| Ccdc65 |
T |
A |
15: 98,620,759 (GRCm39) |
V418D |
probably benign |
Het |
| Cd226 |
A |
C |
18: 89,265,444 (GRCm39) |
I241L |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,873,428 (GRCm39) |
S1227P |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,842,794 (GRCm39) |
A78T |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,652 (GRCm39) |
H305L |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,706,707 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dguok |
A |
G |
6: 83,467,548 (GRCm39) |
Y100H |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,615,533 (GRCm39) |
S2955R |
probably damaging |
Het |
| Etfbkmt |
A |
T |
6: 149,045,640 (GRCm39) |
|
probably benign |
Het |
| Fam222a |
T |
A |
5: 114,749,347 (GRCm39) |
I181N |
probably damaging |
Het |
| Fam24b |
T |
C |
7: 130,927,877 (GRCm39) |
D104G |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,181,611 (GRCm39) |
C1883* |
probably null |
Het |
| Fchsd2 |
T |
G |
7: 100,920,778 (GRCm39) |
L461R |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,472,532 (GRCm39) |
R2756Q |
possibly damaging |
Het |
| Ints14 |
A |
G |
9: 64,882,932 (GRCm39) |
D261G |
probably damaging |
Het |
| Mapkapk5 |
C |
T |
5: 121,672,490 (GRCm39) |
A163T |
probably benign |
Het |
| Micu3 |
A |
T |
8: 40,835,156 (GRCm39) |
K504* |
probably null |
Het |
| Myh1 |
C |
G |
11: 67,108,618 (GRCm39) |
H1345D |
possibly damaging |
Het |
| Myh7 |
C |
A |
14: 55,216,146 (GRCm39) |
R1289L |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,132,068 (GRCm39) |
H280Q |
|
Het |
| Nrbp1 |
T |
A |
5: 31,404,771 (GRCm39) |
|
probably null |
Het |
| Oacyl |
T |
A |
18: 65,831,414 (GRCm39) |
V17D |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,480,157 (GRCm39) |
R463L |
possibly damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,725 (GRCm39) |
L155Q |
probably damaging |
Het |
| Or8b40 |
G |
A |
9: 38,028,010 (GRCm39) |
S311N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,217,128 (GRCm39) |
C2184* |
probably null |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Phrf1 |
T |
G |
7: 140,834,815 (GRCm39) |
S198A |
unknown |
Het |
| Ppp1r13b |
C |
T |
12: 111,810,077 (GRCm39) |
D244N |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,564,887 (GRCm39) |
E200G |
possibly damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,936 (GRCm39) |
S361P |
probably benign |
Het |
| Scgb2b19 |
G |
A |
7: 32,978,039 (GRCm39) |
A86V |
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,408,728 (GRCm39) |
C138S |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,505,606 (GRCm39) |
S511P |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,175 (GRCm39) |
S207P |
probably damaging |
Het |
| Tdpoz1 |
A |
T |
3: 93,578,540 (GRCm39) |
H81Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,578,414 (GRCm39) |
K289E |
probably damaging |
Het |
| Vmn1r18 |
A |
C |
6: 57,367,202 (GRCm39) |
N117K |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,872,794 (GRCm39) |
G3270V |
probably damaging |
Het |
| Wdr20 |
A |
G |
12: 110,760,187 (GRCm39) |
T358A |
probably benign |
Het |
| Wwc1 |
A |
C |
11: 35,870,796 (GRCm39) |
|
probably null |
Het |
| Yars2 |
G |
T |
16: 16,127,242 (GRCm39) |
V436L |
possibly damaging |
Het |
| Zfp609 |
G |
A |
9: 65,604,512 (GRCm39) |
Q1324* |
probably null |
Het |
| Zfp81 |
T |
C |
17: 33,553,774 (GRCm39) |
T347A |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,021,366 (GRCm39) |
V292A |
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 |
|
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'- TGCCAGAAAGTCTTGGAGATG -3'
(R):5'- GGTTGATTCTCAGCATCTGCC -3'
Sequencing Primer
(F):5'- AAAGTCTTGGAGATGGAGCTGTG -3'
(R):5'- TCAGCATCTGCCCTCCCAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation