Incidental Mutation 'R5461:Pik3c2b'
ID |
433003 |
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 |
043023-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R5461 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133027440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1313
(T1313I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077730
AA Change: T1313I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: T1313I
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 |
0.0989 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (57/57) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,643 (GRCm39) |
I405K |
possibly damaging |
Het |
4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,296,248 (GRCm39) |
W1079R |
probably damaging |
Het |
Arsa |
T |
C |
15: 89,357,478 (GRCm39) |
H495R |
probably benign |
Het |
Bptf |
T |
C |
11: 106,952,590 (GRCm39) |
T2088A |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,541,643 (GRCm39) |
L152P |
probably damaging |
Het |
C8a |
T |
C |
4: 104,673,042 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
G |
A |
12: 80,804,816 (GRCm39) |
A486V |
unknown |
Het |
Cpa2 |
A |
G |
6: 30,544,180 (GRCm39) |
T38A |
probably benign |
Het |
Crim1 |
T |
G |
17: 78,545,236 (GRCm39) |
C133G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,364,177 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,824,550 (GRCm39) |
Q2392* |
probably null |
Het |
Exoc2 |
C |
T |
13: 31,109,738 (GRCm39) |
S210N |
possibly damaging |
Het |
Gm7003 |
A |
G |
12: 113,766,847 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,245,863 (GRCm39) |
K2192R |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,053,010 (GRCm39) |
D176G |
probably damaging |
Het |
Ints10 |
G |
A |
8: 69,246,693 (GRCm39) |
E8K |
possibly damaging |
Het |
Itgb8 |
T |
C |
12: 119,131,740 (GRCm39) |
E635G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
G |
16: 22,897,887 (GRCm39) |
H429R |
probably benign |
Het |
Mcm3 |
T |
C |
1: 20,884,661 (GRCm39) |
I281V |
probably benign |
Het |
Msi1 |
T |
C |
5: 115,579,450 (GRCm39) |
S200P |
possibly damaging |
Het |
Nat3 |
T |
C |
8: 68,000,514 (GRCm39) |
L131P |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,104,177 (GRCm39) |
E1752G |
probably damaging |
Het |
Nnt |
C |
T |
13: 119,505,131 (GRCm39) |
A414T |
possibly damaging |
Het |
Nrp2 |
C |
T |
1: 62,786,370 (GRCm39) |
Q292* |
probably null |
Het |
Or51ah3 |
T |
A |
7: 103,209,780 (GRCm39) |
L32Q |
probably damaging |
Het |
Or52k2 |
G |
A |
7: 102,253,615 (GRCm39) |
G18D |
probably damaging |
Het |
Otop1 |
A |
T |
5: 38,457,059 (GRCm39) |
I273F |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,920,694 (GRCm39) |
N177K |
probably benign |
Het |
Pikfyve |
C |
A |
1: 65,274,192 (GRCm39) |
D677E |
probably damaging |
Het |
Poc1a |
T |
C |
9: 106,165,209 (GRCm39) |
F157L |
probably damaging |
Het |
Prodh2 |
G |
T |
7: 30,193,948 (GRCm39) |
R185L |
possibly damaging |
Het |
Rcc1 |
T |
C |
4: 132,061,497 (GRCm39) |
I350M |
probably benign |
Het |
Rhd |
G |
A |
4: 134,611,928 (GRCm39) |
A249T |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,252 (GRCm39) |
Y57C |
probably damaging |
Het |
Shmt1 |
A |
G |
11: 60,685,725 (GRCm39) |
S284P |
possibly damaging |
Het |
Shpk |
T |
C |
11: 73,090,361 (GRCm39) |
V6A |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,262,836 (GRCm39) |
V661A |
probably benign |
Het |
Spesp1 |
A |
T |
9: 62,180,014 (GRCm39) |
L298Q |
probably damaging |
Het |
Tas1r2 |
C |
A |
4: 139,387,320 (GRCm39) |
Q231K |
probably benign |
Het |
Tcp11l1 |
T |
C |
2: 104,518,856 (GRCm39) |
Y280C |
probably benign |
Het |
Tnip1 |
T |
C |
11: 54,801,625 (GRCm39) |
|
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,192,395 (GRCm39) |
D295E |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,078,397 (GRCm39) |
L1521F |
probably damaging |
Het |
Usp10 |
T |
C |
8: 120,683,406 (GRCm39) |
I759T |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,759 (GRCm39) |
C24* |
probably null |
Het |
Vmn2r104 |
T |
A |
17: 20,250,343 (GRCm39) |
I643F |
probably damaging |
Het |
Wwc1 |
T |
A |
11: 35,758,199 (GRCm39) |
T716S |
probably damaging |
Het |
Zfp949 |
C |
T |
9: 88,451,537 (GRCm39) |
T369M |
probably benign |
Het |
Zhx3 |
A |
G |
2: 160,621,938 (GRCm39) |
V743A |
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 |
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'- TCTGCCTATAACCCCAATCAGG -3'
(R):5'- ATATTGGCCTCAGAATGCAGACAG -3'
Sequencing Primer
(F):5'- GCAGCTTGTATAGAAAACCCTGGC -3'
(R):5'- TGCAGACAGGAACAAACTGATTAC -3'
|
Posted On |
2016-10-06 |