Incidental Mutation 'R4926:Pik3c2b'
ID |
379004 |
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 |
042527-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R4926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 133027364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 1288
(E1288*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077730
AA Change: E1288*
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: E1288*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
99% (87/88) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
T |
9: 108,272,498 (GRCm39) |
D136V |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,447,891 (GRCm39) |
R217W |
probably damaging |
Het |
Ankrd23 |
A |
T |
1: 36,571,068 (GRCm39) |
H102Q |
probably damaging |
Het |
Arfip2 |
G |
T |
7: 105,287,151 (GRCm39) |
R138S |
probably damaging |
Het |
Arhgap27 |
A |
T |
11: 103,229,949 (GRCm39) |
|
probably null |
Het |
Atg2a |
T |
C |
19: 6,307,563 (GRCm39) |
L1499P |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,194,416 (GRCm39) |
S110P |
probably damaging |
Het |
Ccdc171 |
T |
C |
4: 83,476,829 (GRCm39) |
|
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,706,535 (GRCm39) |
|
probably benign |
Het |
Chd5 |
T |
C |
4: 152,467,768 (GRCm39) |
S1689P |
probably benign |
Het |
Corin |
A |
G |
5: 72,529,525 (GRCm39) |
C212R |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,049,597 (GRCm39) |
I42V |
probably benign |
Het |
Cyp3a25 |
G |
A |
5: 145,928,266 (GRCm39) |
R260C |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,757,087 (GRCm39) |
Y116C |
probably damaging |
Het |
Eif3a |
A |
G |
19: 60,751,656 (GRCm39) |
|
probably benign |
Het |
Epop |
T |
C |
11: 97,519,143 (GRCm39) |
D322G |
probably damaging |
Het |
Eps8l3 |
T |
A |
3: 107,798,004 (GRCm39) |
|
probably benign |
Het |
Exph5 |
T |
C |
9: 53,287,925 (GRCm39) |
S1669P |
possibly damaging |
Het |
Faah |
A |
T |
4: 115,856,823 (GRCm39) |
|
probably benign |
Het |
Fanca |
A |
G |
8: 124,030,724 (GRCm39) |
C453R |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,785,660 (GRCm39) |
C366S |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,329,981 (GRCm39) |
T124A |
unknown |
Het |
Foxi3 |
C |
T |
6: 70,933,996 (GRCm39) |
S161L |
probably damaging |
Het |
Foxo3 |
A |
T |
10: 42,073,020 (GRCm39) |
V499E |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
Gm839 |
A |
C |
6: 89,189,581 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,197,199 (GRCm39) |
T413A |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,269,841 (GRCm39) |
Y2297H |
probably damaging |
Het |
Ighv1-81 |
T |
A |
12: 115,884,093 (GRCm39) |
I53L |
probably benign |
Het |
Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,946,521 (GRCm39) |
V412A |
possibly damaging |
Het |
Map4k4 |
A |
T |
1: 40,056,385 (GRCm39) |
E1023D |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,584,758 (GRCm39) |
L118* |
probably null |
Het |
Mrgpra9 |
T |
A |
7: 46,884,759 (GRCm39) |
T303S |
possibly damaging |
Het |
Mterf4 |
T |
C |
1: 93,232,647 (GRCm39) |
E68G |
probably benign |
Het |
Nckap5 |
A |
C |
1: 126,456,378 (GRCm39) |
|
probably benign |
Het |
Nox3 |
T |
A |
17: 3,720,169 (GRCm39) |
T339S |
probably damaging |
Het |
Nrip2 |
A |
C |
6: 128,385,337 (GRCm39) |
H256P |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,053,831 (GRCm39) |
V97A |
probably benign |
Het |
Obox2 |
T |
A |
7: 15,131,102 (GRCm39) |
|
probably null |
Het |
Opa1 |
T |
C |
16: 29,467,791 (GRCm39) |
F989S |
possibly damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,319 (GRCm39) |
|
probably null |
Het |
Padi1 |
T |
A |
4: 140,552,158 (GRCm39) |
I429F |
probably damaging |
Het |
Paics |
A |
G |
5: 77,109,051 (GRCm39) |
D163G |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,426,009 (GRCm39) |
V593D |
possibly damaging |
Het |
Prpf39 |
A |
G |
12: 65,090,830 (GRCm39) |
I165M |
possibly damaging |
Het |
Pth2r |
A |
G |
1: 65,361,143 (GRCm39) |
T26A |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,681,454 (GRCm39) |
|
probably null |
Het |
Rab44 |
C |
T |
17: 29,358,529 (GRCm39) |
A239V |
probably benign |
Het |
Rtcb |
T |
C |
10: 85,791,600 (GRCm39) |
N52S |
probably benign |
Het |
Sapcd2 |
T |
A |
2: 25,263,578 (GRCm39) |
|
probably null |
Het |
Scaf11 |
T |
C |
15: 96,316,123 (GRCm39) |
E1147G |
possibly damaging |
Het |
Selenoo |
T |
C |
15: 88,983,881 (GRCm39) |
Y595H |
probably damaging |
Het |
Slc2a5 |
G |
T |
4: 150,205,199 (GRCm39) |
E3* |
probably null |
Het |
Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,249,254 (GRCm39) |
K755R |
probably benign |
Het |
Sorbs3 |
G |
T |
14: 70,424,394 (GRCm39) |
P513T |
probably damaging |
Het |
Sowaha |
T |
A |
11: 53,370,337 (GRCm39) |
E133V |
possibly damaging |
Het |
Srsf5 |
T |
C |
12: 80,994,075 (GRCm39) |
|
probably benign |
Het |
St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
Tcp11l1 |
T |
C |
2: 104,512,130 (GRCm39) |
I501V |
probably benign |
Het |
Tert |
A |
G |
13: 73,796,508 (GRCm39) |
K1080E |
possibly damaging |
Het |
Tescl |
T |
A |
7: 24,033,323 (GRCm39) |
M1L |
possibly damaging |
Het |
Thop1 |
T |
A |
10: 80,909,201 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
T |
C |
14: 123,210,618 (GRCm39) |
H80R |
probably damaging |
Het |
Toe1 |
C |
T |
4: 116,661,729 (GRCm39) |
S480N |
probably damaging |
Het |
Trap1 |
C |
A |
16: 3,863,352 (GRCm39) |
V557F |
probably benign |
Het |
Trim30d |
T |
C |
7: 104,132,564 (GRCm39) |
E91G |
probably benign |
Het |
Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
Ttll8 |
C |
A |
15: 88,798,368 (GRCm39) |
G789V |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,087,798 (GRCm39) |
F298S |
probably benign |
Het |
Wwc1 |
C |
T |
11: 35,780,227 (GRCm39) |
A243T |
probably benign |
Het |
Zfp248 |
A |
C |
6: 118,406,787 (GRCm39) |
H267Q |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,321,785 (GRCm39) |
M945L |
probably benign |
Het |
Zup1 |
T |
C |
10: 33,825,434 (GRCm39) |
D16G |
probably 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 |
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 |
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'- TCTTCCCTAAGGGCATCCAG -3'
(R):5'- CCTTAACGTTTGGGCTAAGC -3'
Sequencing Primer
(F):5'- GGGGCCTGACCTCTTACTTTAG -3'
(R):5'- GCTAAGCCTGTCCCACTG -3'
|
Posted On |
2016-04-15 |