Incidental Mutation 'R1181:Plekha2'
| ID |
101582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha2
|
| Ensembl Gene |
ENSMUSG00000031557 |
| Gene Name |
pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2 |
| Synonyms |
TAPP2, 6430512N22Rik |
| MMRRC Submission |
039253-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1181 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25529160-25592392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 25549218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 189
(S189A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064883]
[ENSMUST00000098866]
[ENSMUST00000125466]
[ENSMUST00000128715]
|
| AlphaFold |
Q9ERS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064883
AA Change: S189A
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: S189A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098866
AA Change: S189A
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: S189A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125466
|
| SMART Domains |
Protein: ENSMUSP00000116764
Gene: ENSMUSG00000031557
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V5P|A
|
1 |
95 |
4e-68 |
PDB |
|
Blast:PH
|
8 |
95 |
9e-61 |
BLAST |
|
SCOP:d1eaza_
|
11 |
95 |
1e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128715
AA Change: S189A
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: S189A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211708
|
| Meta Mutation Damage Score |
0.0693 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
A |
19: 4,922,638 (GRCm39) |
Q64L |
probably benign |
Het |
| Ankrd12 |
T |
C |
17: 66,349,569 (GRCm39) |
N88S |
probably benign |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,152,960 (GRCm39) |
|
probably null |
Het |
| Bod1 |
T |
C |
11: 31,616,943 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,971,328 (GRCm39) |
H166N |
probably damaging |
Het |
| Cdr2l |
T |
A |
11: 115,285,005 (GRCm39) |
I447N |
probably damaging |
Het |
| Cped1 |
T |
G |
6: 22,215,561 (GRCm39) |
I698M |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,642,662 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,012,831 (GRCm39) |
V902I |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Fastk |
C |
T |
5: 24,646,729 (GRCm39) |
|
probably null |
Het |
| Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hgf |
G |
C |
5: 16,823,923 (GRCm39) |
G707R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,228 (GRCm39) |
M594T |
probably damaging |
Het |
| Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
| Mettl14 |
C |
T |
3: 123,167,651 (GRCm39) |
G236S |
probably damaging |
Het |
| Nob1 |
G |
A |
8: 108,148,122 (GRCm39) |
P107S |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
T |
A |
6: 42,932,492 (GRCm39) |
L20Q |
probably benign |
Het |
| Or52e7 |
T |
A |
7: 104,685,021 (GRCm39) |
N205K |
probably damaging |
Het |
| Or52n4b |
C |
A |
7: 108,144,509 (GRCm39) |
T257N |
probably benign |
Het |
| Or5b109 |
C |
A |
19: 13,212,195 (GRCm39) |
H194N |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Or6c65 |
A |
G |
10: 129,604,033 (GRCm39) |
I223V |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,183,366 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,784,545 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,467,446 (GRCm39) |
K445R |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,907,571 (GRCm39) |
E324G |
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tas2r121 |
A |
T |
6: 132,677,132 (GRCm39) |
I280N |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,306,615 (GRCm39) |
I242M |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,302,915 (GRCm39) |
H301Q |
possibly damaging |
Het |
| Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,764,413 (GRCm39) |
K229E |
probably damaging |
Het |
|
| Other mutations in Plekha2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Plekha2
|
APN |
8 |
25,547,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02123:Plekha2
|
APN |
8 |
25,532,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
abstruse
|
UTSW |
8 |
25,578,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Byzantine
|
UTSW |
8 |
25,578,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Complexity
|
UTSW |
8 |
25,547,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Elaborate
|
UTSW |
8 |
25,533,063 (GRCm39) |
splice site |
probably null |
|
|
R1178:Plekha2
|
UTSW |
8 |
25,549,218 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1668:Plekha2
|
UTSW |
8 |
25,562,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1722:Plekha2
|
UTSW |
8 |
25,532,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2153:Plekha2
|
UTSW |
8 |
25,578,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Plekha2
|
UTSW |
8 |
25,533,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Plekha2
|
UTSW |
8 |
25,533,685 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Plekha2
|
UTSW |
8 |
25,549,851 (GRCm39) |
missense |
probably null |
1.00 |
|
R4791:Plekha2
|
UTSW |
8 |
25,532,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Plekha2
|
UTSW |
8 |
25,549,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5344:Plekha2
|
UTSW |
8 |
25,533,063 (GRCm39) |
splice site |
probably null |
|
|
R5670:Plekha2
|
UTSW |
8 |
25,549,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5892:Plekha2
|
UTSW |
8 |
25,542,381 (GRCm39) |
missense |
probably benign |
|
|
R6440:Plekha2
|
UTSW |
8 |
25,578,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Plekha2
|
UTSW |
8 |
25,549,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7157:Plekha2
|
UTSW |
8 |
25,553,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Plekha2
|
UTSW |
8 |
25,578,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Plekha2
|
UTSW |
8 |
25,547,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Plekha2
|
UTSW |
8 |
25,578,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8048:Plekha2
|
UTSW |
8 |
25,554,005 (GRCm39) |
splice site |
probably benign |
|
|
R8359:Plekha2
|
UTSW |
8 |
25,578,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Plekha2
|
UTSW |
8 |
25,547,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCAATGGCAGTCAACATAGAGG -3'
(R):5'- GGGAAACACTAGAGCATCGGCTAAC -3'
Sequencing Primer
(F):5'- CAACATAGAGGGGTACAGTTCTTCC -3'
(R):5'- GGCAAAGTCAGCTCTTAGTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation