Incidental Mutation 'IGL01682:Pip4k2a'
| ID |
103841 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pip4k2a
|
| Ensembl Gene |
ENSMUSG00000026737 |
| Gene Name |
phosphatidylinositol-5-phosphate 4-kinase, type II, alpha |
| Synonyms |
Pip5k2a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18847066-19002937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19002779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 10
(S10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006912]
[ENSMUST00000028069]
|
| AlphaFold |
O70172 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006912
AA Change: S10P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006912
Gene: ENSMUSG00000026737
AA Change: S10P
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
62 |
405 |
1.19e-169 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028069
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and appear phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
T |
C |
12: 37,407,626 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,330,041 (GRCm39) |
G93D |
probably damaging |
Het |
| C2cd6 |
T |
G |
1: 59,101,660 (GRCm39) |
Y333S |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,263,067 (GRCm39) |
E414G |
possibly damaging |
Het |
| Capn10 |
C |
A |
1: 92,868,106 (GRCm39) |
T191K |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,287,187 (GRCm39) |
R328S |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,954,397 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,228 (GRCm39) |
V486D |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,943,267 (GRCm39) |
L241I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,052,785 (GRCm39) |
A2965E |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,205,743 (GRCm39) |
C1112S |
probably damaging |
Het |
| Gm10228 |
T |
A |
16: 88,838,073 (GRCm39) |
Y77F |
unknown |
Het |
| Gng3 |
T |
C |
19: 8,815,944 (GRCm39) |
I25V |
probably benign |
Het |
| Gramd2a |
A |
G |
9: 59,619,393 (GRCm39) |
I61M |
possibly damaging |
Het |
| Hcar2 |
T |
C |
5: 124,002,582 (GRCm39) |
N307S |
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,863,134 (GRCm39) |
E529K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,412,941 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,465,981 (GRCm39) |
Q33R |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,410,847 (GRCm39) |
K1447R |
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,671,376 (GRCm39) |
D426G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,314,188 (GRCm39) |
G138S |
probably damaging |
Het |
| Or51f2 |
C |
T |
7: 102,526,440 (GRCm39) |
L38F |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,552,774 (GRCm39) |
|
probably null |
Het |
| Rprd1b |
T |
C |
2: 157,892,080 (GRCm39) |
I201T |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,869,696 (GRCm39) |
N719S |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,169,944 (GRCm39) |
G939E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,336,196 (GRCm39) |
K210E |
probably damaging |
Het |
| Trav3-1 |
G |
A |
14: 52,818,649 (GRCm39) |
V108M |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,416,170 (GRCm39) |
I820T |
possibly damaging |
Het |
|
| Other mutations in Pip4k2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Pip4k2a
|
APN |
2 |
18,877,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02379:Pip4k2a
|
APN |
2 |
18,870,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0096:Pip4k2a
|
UTSW |
2 |
18,893,850 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Pip4k2a
|
UTSW |
2 |
18,893,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0514:Pip4k2a
|
UTSW |
2 |
18,850,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1673:Pip4k2a
|
UTSW |
2 |
18,877,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1779:Pip4k2a
|
UTSW |
2 |
18,852,433 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2198:Pip4k2a
|
UTSW |
2 |
18,852,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4555:Pip4k2a
|
UTSW |
2 |
18,877,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5408:Pip4k2a
|
UTSW |
2 |
18,911,119 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7598:Pip4k2a
|
UTSW |
2 |
18,877,098 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8971:Pip4k2a
|
UTSW |
2 |
18,852,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9000:Pip4k2a
|
UTSW |
2 |
18,877,240 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9389:Pip4k2a
|
UTSW |
2 |
18,912,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation