Incidental Mutation 'R1816:Pik3c2b'
ID |
204388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3c2b
|
Ensembl Gene |
ENSMUSG00000026447 |
Gene Name |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
Synonyms |
PI3K-C2beta, C330011J12Rik |
MMRRC Submission |
039844-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R1816 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133029108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1398
(A1398V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077730
AA Change: A1398V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: A1398V
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
PI3K_rbd
|
363 |
465 |
2.15e-19 |
SMART |
PI3K_C2
|
618 |
726 |
6.17e-29 |
SMART |
PI3Ka
|
804 |
990 |
1.66e-84 |
SMART |
PI3Kc
|
1078 |
1340 |
3.45e-132 |
SMART |
PX
|
1364 |
1476 |
9.44e-27 |
SMART |
low complexity region
|
1481 |
1492 |
N/A |
INTRINSIC |
C2
|
1517 |
1622 |
1.82e-18 |
SMART |
|
Meta Mutation Damage Score |
0.0750 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.9%
|
Validation Efficiency |
99% (72/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,644,222 (GRCm39) |
Y721* |
probably null |
Het |
4933405L10Rik |
T |
A |
8: 106,436,491 (GRCm39) |
V220E |
possibly damaging |
Het |
4933434E20Rik |
T |
C |
3: 89,960,398 (GRCm39) |
V13A |
possibly damaging |
Het |
Adam1b |
T |
G |
5: 121,639,788 (GRCm39) |
Q419P |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,784,028 (GRCm39) |
V316A |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,205,547 (GRCm39) |
D294E |
probably damaging |
Het |
Atr |
T |
C |
9: 95,748,747 (GRCm39) |
S431P |
probably benign |
Het |
Bfsp1 |
C |
T |
2: 143,683,599 (GRCm39) |
A242T |
probably benign |
Het |
Bptf |
A |
T |
11: 106,951,405 (GRCm39) |
V279E |
probably damaging |
Het |
Camkk2 |
A |
G |
5: 122,872,243 (GRCm39) |
L540P |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Ceacam12 |
T |
A |
7: 17,805,690 (GRCm39) |
|
probably null |
Het |
Cntnap5a |
G |
T |
1: 116,356,618 (GRCm39) |
A823S |
probably benign |
Het |
Cp |
T |
C |
3: 20,022,384 (GRCm39) |
|
probably benign |
Het |
Dhx58 |
A |
G |
11: 100,593,978 (GRCm39) |
V163A |
probably damaging |
Het |
Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
Disp1 |
T |
A |
1: 182,880,139 (GRCm39) |
D288V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,670,901 (GRCm39) |
|
probably benign |
Het |
Eaf2 |
T |
G |
16: 36,628,371 (GRCm39) |
|
probably benign |
Het |
Efna1 |
T |
C |
3: 89,183,694 (GRCm39) |
N44S |
possibly damaging |
Het |
Etnppl |
T |
C |
3: 130,428,211 (GRCm39) |
I462T |
probably benign |
Het |
Fam83d |
G |
T |
2: 158,610,070 (GRCm39) |
A13S |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
Fstl1 |
A |
G |
16: 37,647,086 (GRCm39) |
|
probably null |
Het |
Gm14226 |
A |
T |
2: 154,867,549 (GRCm39) |
D502V |
probably damaging |
Het |
Gm5117 |
T |
A |
8: 32,228,986 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
A |
G |
1: 59,621,558 (GRCm39) |
N566S |
probably damaging |
Het |
Grm7 |
A |
T |
6: 111,472,752 (GRCm39) |
K16* |
probably null |
Het |
Hbb-bh2 |
G |
A |
7: 103,489,585 (GRCm39) |
T17I |
possibly damaging |
Het |
Htt |
C |
T |
5: 34,961,084 (GRCm39) |
A237V |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,671,153 (GRCm39) |
V665A |
probably benign |
Het |
Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,116 (GRCm39) |
D445G |
possibly damaging |
Het |
Myo10 |
T |
C |
15: 25,800,286 (GRCm39) |
V1454A |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
Odam |
A |
G |
5: 88,037,329 (GRCm39) |
|
probably null |
Het |
Or1e33 |
T |
C |
11: 73,738,025 (GRCm39) |
K309E |
probably benign |
Het |
Or2ag13 |
A |
T |
7: 106,472,695 (GRCm39) |
Y252* |
probably null |
Het |
Or4p18 |
T |
G |
2: 88,232,943 (GRCm39) |
I112L |
possibly damaging |
Het |
Or5g29 |
G |
T |
2: 85,421,269 (GRCm39) |
K128N |
probably benign |
Het |
Or5p80 |
T |
C |
7: 108,229,364 (GRCm39) |
L55P |
probably damaging |
Het |
Or8k33 |
A |
T |
2: 86,384,011 (GRCm39) |
C152* |
probably null |
Het |
Pcm1 |
T |
A |
8: 41,762,574 (GRCm39) |
S1412T |
probably damaging |
Het |
Pgap1 |
A |
G |
1: 54,531,216 (GRCm39) |
L753P |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,908,088 (GRCm39) |
S153P |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,391,635 (GRCm39) |
I1567T |
possibly damaging |
Het |
Rapgef6 |
G |
A |
11: 54,585,314 (GRCm39) |
V1571I |
probably benign |
Het |
Rfx2 |
C |
A |
17: 57,115,305 (GRCm39) |
E5* |
probably null |
Het |
Sh3tc1 |
C |
A |
5: 35,857,928 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
G |
A |
19: 6,592,683 (GRCm39) |
Q20* |
probably null |
Het |
Slc4a1 |
A |
G |
11: 102,242,056 (GRCm39) |
C861R |
probably damaging |
Het |
Snrnp25 |
G |
A |
11: 32,157,565 (GRCm39) |
V48I |
probably damaging |
Het |
Spata1 |
G |
T |
3: 146,186,962 (GRCm39) |
P211Q |
probably damaging |
Het |
Srgap1 |
G |
A |
10: 121,761,876 (GRCm39) |
Q91* |
probably null |
Het |
Stab1 |
T |
C |
14: 30,879,422 (GRCm39) |
D686G |
probably benign |
Het |
Stx8 |
T |
A |
11: 67,902,152 (GRCm39) |
M112K |
possibly damaging |
Het |
Tfap2b |
A |
T |
1: 19,279,436 (GRCm39) |
K15N |
probably damaging |
Het |
Thbs2 |
C |
A |
17: 14,890,975 (GRCm39) |
D1052Y |
probably benign |
Het |
Thbs2 |
T |
A |
17: 14,890,976 (GRCm39) |
E1051D |
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,665,700 (GRCm39) |
D74G |
probably benign |
Het |
Tlr2 |
T |
C |
3: 83,745,516 (GRCm39) |
Y189C |
probably damaging |
Het |
Tmem268 |
C |
A |
4: 63,483,947 (GRCm39) |
P55T |
possibly damaging |
Het |
Tnpo3 |
T |
C |
6: 29,557,016 (GRCm39) |
H745R |
probably benign |
Het |
Trappc14 |
A |
G |
5: 138,258,603 (GRCm39) |
V548A |
possibly damaging |
Het |
Ube2s |
T |
C |
7: 4,814,554 (GRCm39) |
N2S |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,935,697 (GRCm39) |
Y39H |
probably damaging |
Het |
Vmn1r49 |
G |
T |
6: 90,049,785 (GRCm39) |
D72E |
possibly damaging |
Het |
Vmn2r27 |
C |
A |
6: 124,207,330 (GRCm39) |
G104* |
probably null |
Het |
Vmn2r92 |
A |
G |
17: 18,386,939 (GRCm39) |
I93V |
probably damaging |
Het |
Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
Zfp958 |
A |
T |
8: 4,679,147 (GRCm39) |
I391F |
possibly damaging |
Het |
|
Other mutations in Pik3c2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01086:Pik3c2b
|
APN |
1 |
133,019,356 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01288:Pik3c2b
|
APN |
1 |
133,022,543 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01313:Pik3c2b
|
APN |
1 |
132,999,369 (GRCm39) |
nonsense |
probably null |
|
IGL01367:Pik3c2b
|
APN |
1 |
133,033,726 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02379:Pik3c2b
|
APN |
1 |
133,022,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02638:Pik3c2b
|
APN |
1 |
133,005,056 (GRCm39) |
splice site |
probably benign |
|
IGL02728:Pik3c2b
|
APN |
1 |
133,020,065 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02992:Pik3c2b
|
APN |
1 |
132,994,718 (GRCm39) |
nonsense |
probably null |
|
IGL03121:Pik3c2b
|
APN |
1 |
133,007,483 (GRCm39) |
missense |
probably benign |
0.00 |
R0453:Pik3c2b
|
UTSW |
1 |
133,005,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0518:Pik3c2b
|
UTSW |
1 |
133,033,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R0616:Pik3c2b
|
UTSW |
1 |
133,028,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Pik3c2b
|
UTSW |
1 |
132,998,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1542:Pik3c2b
|
UTSW |
1 |
133,017,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Pik3c2b
|
UTSW |
1 |
133,022,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1897:Pik3c2b
|
UTSW |
1 |
132,994,654 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2006:Pik3c2b
|
UTSW |
1 |
132,994,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Pik3c2b
|
UTSW |
1 |
133,027,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Pik3c2b
|
UTSW |
1 |
133,031,166 (GRCm39) |
missense |
probably benign |
|
R2294:Pik3c2b
|
UTSW |
1 |
132,994,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R2320:Pik3c2b
|
UTSW |
1 |
133,031,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R4735:Pik3c2b
|
UTSW |
1 |
132,994,787 (GRCm39) |
missense |
probably benign |
0.25 |
R4926:Pik3c2b
|
UTSW |
1 |
133,027,364 (GRCm39) |
nonsense |
probably null |
|
R4948:Pik3c2b
|
UTSW |
1 |
133,027,453 (GRCm39) |
critical splice donor site |
probably null |
|
R4997:Pik3c2b
|
UTSW |
1 |
133,032,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Pik3c2b
|
UTSW |
1 |
132,998,146 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5461:Pik3c2b
|
UTSW |
1 |
133,027,440 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5722:Pik3c2b
|
UTSW |
1 |
133,031,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5971:Pik3c2b
|
UTSW |
1 |
133,002,365 (GRCm39) |
splice site |
probably null |
|
R5980:Pik3c2b
|
UTSW |
1 |
133,016,046 (GRCm39) |
missense |
probably benign |
0.43 |
R6036:Pik3c2b
|
UTSW |
1 |
133,018,451 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6138:Pik3c2b
|
UTSW |
1 |
133,002,365 (GRCm39) |
splice site |
probably null |
|
R6223:Pik3c2b
|
UTSW |
1 |
132,998,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Pik3c2b
|
UTSW |
1 |
132,994,449 (GRCm39) |
missense |
probably benign |
0.02 |
R6742:Pik3c2b
|
UTSW |
1 |
133,003,559 (GRCm39) |
missense |
probably benign |
|
R6954:Pik3c2b
|
UTSW |
1 |
132,994,041 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6998:Pik3c2b
|
UTSW |
1 |
133,030,110 (GRCm39) |
missense |
probably benign |
0.23 |
R7103:Pik3c2b
|
UTSW |
1 |
133,033,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7133:Pik3c2b
|
UTSW |
1 |
133,017,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7161:Pik3c2b
|
UTSW |
1 |
133,033,850 (GRCm39) |
missense |
probably damaging |
0.98 |
R7183:Pik3c2b
|
UTSW |
1 |
132,994,203 (GRCm39) |
missense |
probably benign |
0.00 |
R7193:Pik3c2b
|
UTSW |
1 |
133,007,512 (GRCm39) |
missense |
probably benign |
0.00 |
R7252:Pik3c2b
|
UTSW |
1 |
133,022,472 (GRCm39) |
missense |
probably benign |
0.19 |
R7263:Pik3c2b
|
UTSW |
1 |
133,017,940 (GRCm39) |
missense |
probably damaging |
0.98 |
R7404:Pik3c2b
|
UTSW |
1 |
133,018,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:Pik3c2b
|
UTSW |
1 |
133,007,579 (GRCm39) |
critical splice donor site |
probably null |
|
R7712:Pik3c2b
|
UTSW |
1 |
133,013,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Pik3c2b
|
UTSW |
1 |
133,030,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Pik3c2b
|
UTSW |
1 |
132,998,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7913:Pik3c2b
|
UTSW |
1 |
133,017,799 (GRCm39) |
critical splice donor site |
probably null |
|
R7916:Pik3c2b
|
UTSW |
1 |
133,028,642 (GRCm39) |
missense |
probably benign |
0.30 |
R7960:Pik3c2b
|
UTSW |
1 |
133,031,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Pik3c2b
|
UTSW |
1 |
133,003,547 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8346:Pik3c2b
|
UTSW |
1 |
133,017,984 (GRCm39) |
missense |
probably damaging |
0.97 |
R8938:Pik3c2b
|
UTSW |
1 |
133,016,068 (GRCm39) |
missense |
probably benign |
0.19 |
R8997:Pik3c2b
|
UTSW |
1 |
133,018,517 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9416:Pik3c2b
|
UTSW |
1 |
133,005,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Pik3c2b
|
UTSW |
1 |
133,012,725 (GRCm39) |
critical splice donor site |
probably null |
|
R9621:Pik3c2b
|
UTSW |
1 |
132,999,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Pik3c2b
|
UTSW |
1 |
133,022,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Pik3c2b
|
UTSW |
1 |
133,018,588 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9786:Pik3c2b
|
UTSW |
1 |
133,019,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
U15987:Pik3c2b
|
UTSW |
1 |
133,002,365 (GRCm39) |
splice site |
probably null |
|
X0060:Pik3c2b
|
UTSW |
1 |
133,012,674 (GRCm39) |
missense |
probably benign |
0.18 |
Z1176:Pik3c2b
|
UTSW |
1 |
133,027,424 (GRCm39) |
nonsense |
probably null |
|
Z1176:Pik3c2b
|
UTSW |
1 |
132,994,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGTCCGGTGAGACACAG -3'
(R):5'- GGTTCTTTCTCAAACAGCAGTC -3'
Sequencing Primer
(F):5'- CACAGGTAGGAAGTCTCTGC -3'
(R):5'- AGTCCTGCTAGCTCCCTC -3'
|
Posted On |
2014-06-23 |