Incidental Mutation 'IGL00391:Plekha2'
| ID |
5052 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekha2
|
| Ensembl Gene |
ENSMUSG00000031557 |
| Gene Name |
pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2 |
| Synonyms |
TAPP2, 6430512N22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25529160-25592392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25547343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064883]
[ENSMUST00000098866]
[ENSMUST00000128715]
|
| AlphaFold |
Q9ERS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064883
AA Change: V247A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098866
AA Change: V247A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128715
AA Change: V247A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: V247A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
| Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Plekha2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1181: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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation