Incidental Mutation 'R6741:Plekho2'
ID |
530458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekho2
|
Ensembl Gene |
ENSMUSG00000050721 |
Gene Name |
pleckstrin homology domain containing, family O member 2 |
Synonyms |
Plekhq1 |
MMRRC Submission |
044858-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.208)
|
Stock # |
R6741 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65459980-65487322 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65471197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 84
(R84L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068944]
|
AlphaFold |
Q8K124 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068944
AA Change: R84L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063677 Gene: ENSMUSG00000050721 AA Change: R84L
Domain | Start | End | E-Value | Type |
PH
|
19 |
122 |
3.15e-11 |
SMART |
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
low complexity region
|
305 |
313 |
N/A |
INTRINSIC |
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213554
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213652
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214740
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
97% (34/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
Het |
|
Other mutations in Plekho2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01370:Plekho2
|
APN |
9 |
65,465,912 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Plekho2
|
APN |
9 |
65,465,902 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03354:Plekho2
|
APN |
9 |
65,466,703 (GRCm39) |
missense |
probably null |
1.00 |
IGL03369:Plekho2
|
APN |
9 |
65,466,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0108:Plekho2
|
UTSW |
9 |
65,466,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R0419:Plekho2
|
UTSW |
9 |
65,464,334 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0930:Plekho2
|
UTSW |
9 |
65,464,105 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1981:Plekho2
|
UTSW |
9 |
65,465,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R5308:Plekho2
|
UTSW |
9 |
65,465,957 (GRCm39) |
missense |
probably damaging |
0.97 |
R5650:Plekho2
|
UTSW |
9 |
65,464,018 (GRCm39) |
missense |
probably benign |
0.02 |
R6529:Plekho2
|
UTSW |
9 |
65,480,383 (GRCm39) |
missense |
probably benign |
0.03 |
R7138:Plekho2
|
UTSW |
9 |
65,463,635 (GRCm39) |
missense |
probably benign |
0.01 |
R7684:Plekho2
|
UTSW |
9 |
65,466,816 (GRCm39) |
splice site |
probably null |
|
R8698:Plekho2
|
UTSW |
9 |
65,463,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Plekho2
|
UTSW |
9 |
65,464,058 (GRCm39) |
missense |
probably benign |
0.00 |
R8845:Plekho2
|
UTSW |
9 |
65,465,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R9331:Plekho2
|
UTSW |
9 |
65,463,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAATCTAGGCAATGGGC -3'
(R):5'- ACGGAGTCTGGAATGCATATTC -3'
Sequencing Primer
(F):5'- GGTGGAAGGCATACCATATTCTCTC -3'
(R):5'- GCATATTCAATGATTGAGATTCTCGG -3'
|
Posted On |
2018-08-01 |