Incidental Mutation 'R7252:Pik3c2b'
| ID |
563962 |
| 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 |
045385-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R7252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 133022472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1138
(R1138H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077730
AA Change: R1138H
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: R1138H
| 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 |
0.4555 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (81/82) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,816,388 (GRCm39) |
I1226N |
probably damaging |
Het |
| Adarb2 |
A |
G |
13: 8,620,216 (GRCm39) |
E234G |
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,217,865 (GRCm39) |
S282P |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,927,205 (GRCm39) |
S306R |
probably benign |
Het |
| Baiap2 |
G |
T |
11: 119,893,865 (GRCm39) |
A514S |
probably benign |
Het |
| BC030500 |
T |
A |
8: 59,364,838 (GRCm39) |
|
probably null |
Het |
| C1qtnf12 |
T |
A |
4: 156,047,072 (GRCm39) |
W13R |
unknown |
Het |
| Ccdc158 |
A |
G |
5: 92,798,647 (GRCm39) |
V351A |
probably benign |
Het |
| Cct8 |
T |
C |
16: 87,281,807 (GRCm39) |
E485G |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,875,342 (GRCm39) |
D542G |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,513,937 (GRCm39) |
S340R |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,046,362 (GRCm39) |
D168E |
probably damaging |
Het |
| Cntn5 |
G |
A |
9: 9,831,640 (GRCm39) |
T375I |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,917,000 (GRCm39) |
I298N |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,232,610 (GRCm39) |
N2198K |
probably benign |
Het |
| Ddx6 |
G |
A |
9: 44,535,050 (GRCm39) |
|
probably null |
Het |
| Defb11 |
A |
G |
8: 22,395,473 (GRCm39) |
I68T |
probably benign |
Het |
| Dip2a |
C |
T |
10: 76,109,036 (GRCm39) |
V1212I |
not run |
Het |
| Dop1a |
T |
A |
9: 86,382,874 (GRCm39) |
I269N |
probably damaging |
Het |
| Efna3 |
C |
T |
3: 89,223,971 (GRCm39) |
G73S |
possibly damaging |
Het |
| Fam98b |
C |
G |
2: 117,094,373 (GRCm39) |
R228G |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,533,246 (GRCm39) |
N521I |
probably damaging |
Het |
| Farsa |
A |
G |
8: 85,587,957 (GRCm39) |
D134G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,088 (GRCm39) |
F329I |
probably damaging |
Het |
| Gm14399 |
A |
T |
2: 174,974,991 (GRCm39) |
I43K |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,760 (GRCm39) |
S110P |
probably damaging |
Het |
| Gpr157 |
T |
C |
4: 150,183,331 (GRCm39) |
V167A |
probably benign |
Het |
| Hacd4 |
A |
G |
4: 88,345,000 (GRCm39) |
I134T |
possibly damaging |
Het |
| Hpgd |
T |
A |
8: 56,751,461 (GRCm39) |
N96K |
probably damaging |
Het |
| Insm2 |
A |
T |
12: 55,647,305 (GRCm39) |
T350S |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,419,518 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,742,147 (GRCm39) |
S4338P |
unknown |
Het |
| Krtap9-3 |
A |
G |
11: 99,488,796 (GRCm39) |
S29P |
probably benign |
Het |
| Kyat3 |
T |
A |
3: 142,426,219 (GRCm39) |
S87T |
probably benign |
Het |
| Minar2 |
A |
G |
18: 59,199,980 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
T |
C |
7: 78,430,336 (GRCm39) |
T145A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,214,973 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,249 (GRCm39) |
H55Q |
probably damaging |
Het |
| Or4c124 |
T |
A |
2: 89,156,629 (GRCm39) |
|
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,657 (GRCm39) |
T82I |
probably benign |
Het |
| Or7g17 |
A |
G |
9: 18,768,548 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,521,703 (GRCm39) |
I70T |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,657,804 (GRCm39) |
D1042G |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,965,084 (GRCm39) |
V659I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,829,263 (GRCm39) |
W382R |
probably damaging |
Het |
| Pfn1 |
A |
G |
11: 70,545,297 (GRCm39) |
W4R |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,330 (GRCm39) |
D1758G |
probably benign |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pramel29 |
T |
C |
4: 143,939,510 (GRCm39) |
D9G |
possibly damaging |
Het |
| Prdm12 |
A |
G |
2: 31,532,386 (GRCm39) |
N132S |
possibly damaging |
Het |
| Prokr2 |
T |
A |
2: 132,223,360 (GRCm39) |
M61L |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,671 (GRCm39) |
|
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,058,200 (GRCm39) |
D301E |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,404,220 (GRCm39) |
Y231H |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Relb |
C |
A |
7: 19,346,538 (GRCm39) |
E345* |
probably null |
Het |
| Rhbdl3 |
A |
C |
11: 80,228,411 (GRCm39) |
M294L |
possibly damaging |
Het |
| Rpl24 |
G |
A |
16: 55,790,479 (GRCm39) |
A112T |
possibly damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,113,196 (GRCm39) |
R442Q |
probably damaging |
Het |
| Rxfp3 |
A |
T |
15: 11,036,025 (GRCm39) |
I449N |
probably benign |
Het |
| Sema4c |
A |
C |
1: 36,589,096 (GRCm39) |
C677G |
probably damaging |
Het |
| Sf3b3 |
A |
C |
8: 111,566,562 (GRCm39) |
I256S |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Slc39a6 |
G |
T |
18: 24,734,442 (GRCm39) |
N82K |
possibly damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,700,521 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
T |
C |
5: 150,986,634 (GRCm39) |
Q292R |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,986,884 (GRCm39) |
R451G |
probably damaging |
Het |
| Tspo |
G |
T |
15: 83,456,466 (GRCm39) |
G83V |
probably damaging |
Het |
| Ubxn10 |
T |
C |
4: 138,448,187 (GRCm39) |
Q163R |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,847,246 (GRCm39) |
S129P |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,718,540 (GRCm39) |
V631D |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,191 (GRCm39) |
I356T |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,279 (GRCm39) |
C647Y |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,638,428 (GRCm39) |
E2356G |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,603,240 (GRCm39) |
T614A |
probably benign |
Het |
| Zdhhc16 |
G |
T |
19: 41,929,990 (GRCm39) |
W271L |
probably damaging |
Het |
| Zer1 |
A |
C |
2: 29,991,904 (GRCm39) |
S652A |
probably damaging |
Het |
| Zfp287 |
A |
G |
11: 62,615,655 (GRCm39) |
V224A |
probably damaging |
Het |
| Zfp438 |
A |
T |
18: 5,214,874 (GRCm39) |
L28* |
probably null |
Het |
| Zfp830 |
G |
A |
11: 82,655,534 (GRCm39) |
A113T |
probably benign |
Het |
| Zfp865 |
G |
T |
7: 5,037,416 (GRCm39) |
|
probably benign |
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 |
|
R1816:Pik3c2b
|
UTSW |
1 |
133,029,108 (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 |
|
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'- TAGGCATGGTTTTCTGCCC -3'
(R):5'- TGGCTCATCTGTGCACATGC -3'
Sequencing Primer
(F):5'- GCCCATCGTCCCTCATGG -3'
(R):5'- GCACATGCAGGTCTGGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation