Incidental Mutation 'IGL02728:Pik3c2b'
ID |
305326 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3c2b
|
Ensembl Gene |
ENSMUSG00000026447 |
Gene Name |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
Synonyms |
PI3K-C2beta, C330011J12Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
IGL02728
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 133020065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1070
(V1070E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077730
AA Change: V1070E
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: V1070E
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 |
Adamts7 |
G |
T |
9: 90,073,880 (GRCm39) |
|
probably benign |
Het |
Als2 |
A |
G |
1: 59,235,506 (GRCm39) |
V726A |
probably benign |
Het |
Apba1 |
G |
A |
19: 23,922,269 (GRCm39) |
G779E |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,818,528 (GRCm39) |
V2167E |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,983,846 (GRCm39) |
K566E |
probably damaging |
Het |
Btd |
T |
C |
14: 31,389,319 (GRCm39) |
F347L |
probably benign |
Het |
Btg2 |
T |
C |
1: 134,006,643 (GRCm39) |
|
probably benign |
Het |
Cblb |
T |
A |
16: 52,003,672 (GRCm39) |
S717T |
probably benign |
Het |
Cep250 |
T |
A |
2: 155,825,198 (GRCm39) |
|
probably benign |
Het |
Cep350 |
T |
C |
1: 155,828,968 (GRCm39) |
N312S |
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,530,107 (GRCm39) |
T1490S |
probably damaging |
Het |
Col7a1 |
T |
A |
9: 108,813,172 (GRCm39) |
C2906S |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,049,779 (GRCm39) |
|
probably null |
Het |
Cspg4 |
T |
A |
9: 56,793,765 (GRCm39) |
V500E |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,126,739 (GRCm39) |
D469V |
probably damaging |
Het |
Dhh |
A |
T |
15: 98,792,192 (GRCm39) |
|
probably null |
Het |
Dhrs3 |
A |
G |
4: 144,646,642 (GRCm39) |
R231G |
probably damaging |
Het |
Disp3 |
A |
G |
4: 148,356,495 (GRCm39) |
S122P |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,005,955 (GRCm39) |
I2275V |
probably benign |
Het |
Dock8 |
A |
C |
19: 25,109,584 (GRCm39) |
N922T |
probably benign |
Het |
Eef1d |
A |
G |
15: 75,774,945 (GRCm39) |
L154P |
probably damaging |
Het |
Eif4ebp1 |
C |
A |
8: 27,763,510 (GRCm39) |
P101Q |
possibly damaging |
Het |
Eif4g1 |
T |
G |
16: 20,505,502 (GRCm39) |
|
probably benign |
Het |
Emb |
A |
G |
13: 117,369,301 (GRCm39) |
M50V |
probably benign |
Het |
Eml4 |
T |
C |
17: 83,780,568 (GRCm39) |
|
probably null |
Het |
Fkbp10 |
G |
T |
11: 100,306,803 (GRCm39) |
R65L |
probably damaging |
Het |
Gm5878 |
T |
C |
6: 85,095,574 (GRCm39) |
N83S |
probably benign |
Het |
Gm8165 |
C |
T |
14: 43,913,694 (GRCm39) |
A57T |
unknown |
Het |
Gpr179 |
A |
G |
11: 97,228,726 (GRCm39) |
V1143A |
probably damaging |
Het |
Hat1 |
T |
C |
2: 71,251,604 (GRCm39) |
Y218H |
probably damaging |
Het |
Hfm1 |
T |
A |
5: 107,026,689 (GRCm39) |
N885I |
probably benign |
Het |
Ift70a1 |
T |
A |
2: 75,811,193 (GRCm39) |
M297L |
probably benign |
Het |
Inha |
T |
C |
1: 75,486,091 (GRCm39) |
S129P |
probably damaging |
Het |
Ints9 |
T |
C |
14: 65,230,457 (GRCm39) |
I128T |
probably damaging |
Het |
Klra9 |
T |
C |
6: 130,168,149 (GRCm39) |
|
probably null |
Het |
Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,691,410 (GRCm39) |
N3356D |
probably benign |
Het |
Map3k5 |
A |
G |
10: 19,994,038 (GRCm39) |
D1008G |
possibly damaging |
Het |
Med4 |
T |
A |
14: 73,755,415 (GRCm39) |
L241Q |
possibly damaging |
Het |
Mtch1 |
A |
G |
17: 29,557,716 (GRCm39) |
V254A |
possibly damaging |
Het |
Napg |
C |
T |
18: 63,127,375 (GRCm39) |
|
probably benign |
Het |
Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
Or5k1 |
C |
T |
16: 58,617,843 (GRCm39) |
R122H |
probably benign |
Het |
Or7g33 |
A |
G |
9: 19,449,142 (GRCm39) |
F28S |
possibly damaging |
Het |
Or8d2 |
T |
C |
9: 38,760,222 (GRCm39) |
S271P |
probably damaging |
Het |
Or9r3 |
T |
A |
10: 129,948,487 (GRCm39) |
R57S |
probably damaging |
Het |
Pias1 |
T |
A |
9: 62,830,926 (GRCm39) |
S161C |
probably damaging |
Het |
Pias1 |
G |
T |
9: 62,830,927 (GRCm39) |
N160K |
possibly damaging |
Het |
Pigp |
G |
A |
16: 94,168,466 (GRCm39) |
P37S |
probably damaging |
Het |
Pramel51 |
G |
T |
12: 88,142,792 (GRCm39) |
H275Q |
probably benign |
Het |
Prepl |
T |
C |
17: 85,378,010 (GRCm39) |
T457A |
probably damaging |
Het |
Psg23 |
G |
A |
7: 18,340,853 (GRCm39) |
A467V |
probably benign |
Het |
Rad54l |
T |
C |
4: 115,980,146 (GRCm39) |
R13G |
probably benign |
Het |
Rassf5 |
T |
C |
1: 131,108,336 (GRCm39) |
D248G |
probably damaging |
Het |
Rspo1 |
A |
G |
4: 124,898,955 (GRCm39) |
N92S |
probably damaging |
Het |
Scube1 |
G |
A |
15: 83,543,217 (GRCm39) |
|
probably benign |
Het |
Sec31b |
C |
A |
19: 44,511,554 (GRCm39) |
V616F |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,615,881 (GRCm39) |
V435A |
probably damaging |
Het |
Slc7a10 |
T |
A |
7: 34,897,123 (GRCm39) |
I208N |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,692,420 (GRCm39) |
M2151K |
possibly damaging |
Het |
Tacc1 |
T |
C |
8: 25,665,235 (GRCm39) |
D50G |
probably damaging |
Het |
Tas2r121 |
G |
T |
6: 132,677,480 (GRCm39) |
T164N |
probably damaging |
Het |
Tatdn2 |
T |
C |
6: 113,681,676 (GRCm39) |
W570R |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,323,628 (GRCm39) |
F600I |
probably damaging |
Het |
Trim36 |
T |
A |
18: 46,305,669 (GRCm39) |
H426L |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,787,016 (GRCm39) |
N531Y |
possibly damaging |
Het |
Ttc39a |
T |
C |
4: 109,299,920 (GRCm39) |
C470R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,615,283 (GRCm39) |
E8485K |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,196,122 (GRCm39) |
I1253F |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,088,688 (GRCm39) |
H1724L |
possibly damaging |
Het |
Vmn1r40 |
T |
A |
6: 89,691,998 (GRCm39) |
C89S |
probably benign |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |