Incidental Mutation 'R8440:Plek'
| ID |
660397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plek
|
| Ensembl Gene |
ENSMUSG00000020120 |
| Gene Name |
pleckstrin |
| Synonyms |
2010300B13Rik |
| MMRRC Submission |
067884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R8440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
16921206-16958718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16945276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 18
(D18G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020321]
[ENSMUST00000102881]
[ENSMUST00000156101]
|
| AlphaFold |
Q9JHK5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020321
AA Change: D18G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: D18G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
80 |
1.12e-2 |
SMART |
|
DEP
|
113 |
198 |
2.53e-16 |
SMART |
|
PH
|
222 |
326 |
5.96e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102881
AA Change: D41G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: D41G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
5 |
103 |
7.12e-19 |
SMART |
|
DEP
|
136 |
221 |
2.53e-16 |
SMART |
|
PH
|
245 |
349 |
5.96e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156101
AA Change: D18G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display mild thrombocytopenia, impaired platelet aggregation, and impaired platelet granule secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
C |
3: 152,209,680 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
A |
9: 22,479,046 (GRCm39) |
V163E |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cbr3 |
T |
C |
16: 93,480,421 (GRCm39) |
I70T |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,943,375 (GRCm39) |
Y426H |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,213,341 (GRCm39) |
M120K |
possibly damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,725,073 (GRCm39) |
C520S |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,859,831 (GRCm39) |
Y1018H |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Frmd8 |
T |
C |
19: 5,915,202 (GRCm39) |
Y234C |
possibly damaging |
Het |
| Fus |
T |
C |
7: 127,568,998 (GRCm39) |
Y50H |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,570,671 (GRCm39) |
Q2164L |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hsd11b1 |
T |
C |
1: 192,904,420 (GRCm39) |
K260E |
probably benign |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,556 (GRCm39) |
G114D |
probably benign |
Het |
| Inpp4b |
G |
A |
8: 82,768,524 (GRCm39) |
E678K |
probably damaging |
Het |
| Kifc3 |
G |
T |
8: 95,836,422 (GRCm39) |
P113Q |
possibly damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,049 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Meiob |
G |
T |
17: 25,037,302 (GRCm39) |
C60F |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 65,022,126 (GRCm39) |
|
probably null |
Het |
| Omp |
A |
G |
7: 97,794,253 (GRCm39) |
F125L |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,024 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,275 (GRCm39) |
M82I |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,308 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,914 (GRCm39) |
V552A |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,675,276 (GRCm39) |
T376A |
probably damaging |
Het |
| Prkdc |
CAAA |
CAAAA |
16: 15,653,022 (GRCm39) |
3833 |
probably null |
Het |
| Rabgap1 |
T |
C |
2: 37,432,692 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
A |
12: 72,270,173 (GRCm39) |
I113F |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,364,950 (GRCm39) |
D4V |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,568,374 (GRCm39) |
H363R |
probably damaging |
Het |
| Stk19 |
T |
C |
17: 35,055,456 (GRCm39) |
S60G |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,679,907 (GRCm39) |
T332I |
probably damaging |
Het |
| Trbv20 |
T |
A |
6: 41,165,892 (GRCm39) |
Y106N |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,745 (GRCm39) |
V150I |
probably benign |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,013 (GRCm39) |
V523E |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,080 (GRCm39) |
E231V |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp592 |
G |
C |
7: 80,691,271 (GRCm39) |
S1150T |
possibly damaging |
Het |
|
| Other mutations in Plek |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02350:Plek
|
APN |
11 |
16,931,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02357:Plek
|
APN |
11 |
16,931,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Plek
|
APN |
11 |
16,931,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Plek
|
APN |
11 |
16,931,887 (GRCm39) |
missense |
probably benign |
|
|
IGL03243:Plek
|
APN |
11 |
16,945,319 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
PIT4402001:Plek
|
UTSW |
11 |
16,940,121 (GRCm39) |
missense |
probably benign |
|
|
R0025:Plek
|
UTSW |
11 |
16,935,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Plek
|
UTSW |
11 |
16,942,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Plek
|
UTSW |
11 |
16,940,111 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2940:Plek
|
UTSW |
11 |
16,942,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3426:Plek
|
UTSW |
11 |
16,940,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4436:Plek
|
UTSW |
11 |
16,942,972 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4463:Plek
|
UTSW |
11 |
16,931,873 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4475:Plek
|
UTSW |
11 |
16,935,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4998:Plek
|
UTSW |
11 |
16,933,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5050:Plek
|
UTSW |
11 |
16,945,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6108:Plek
|
UTSW |
11 |
16,940,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6159:Plek
|
UTSW |
11 |
16,935,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6185:Plek
|
UTSW |
11 |
16,931,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Plek
|
UTSW |
11 |
16,944,760 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7017:Plek
|
UTSW |
11 |
17,002,220 (GRCm39) |
start gained |
probably benign |
|
|
R7317:Plek
|
UTSW |
11 |
16,944,739 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7890:Plek
|
UTSW |
11 |
16,945,238 (GRCm39) |
missense |
probably benign |
|
|
R8334:Plek
|
UTSW |
11 |
16,933,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8679:Plek
|
UTSW |
11 |
16,944,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9600:Plek
|
UTSW |
11 |
16,940,119 (GRCm39) |
missense |
probably benign |
|
|
R9617:Plek
|
UTSW |
11 |
16,945,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9666:Plek
|
UTSW |
11 |
16,945,346 (GRCm39) |
missense |
probably benign |
|
|
R9669:Plek
|
UTSW |
11 |
16,944,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAAAGAGCACCCAAGGTC -3'
(R):5'- TGTGTCCACAGAGATTGTCAC -3'
Sequencing Primer
(F):5'- TCAACAGGTGACACAAAGGTCTTG -3'
(R):5'- CACTTTTAAAGTCAACTGCAGGAAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation