Incidental Mutation 'U15987:Pik3c2b'
ID |
482038 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
U15987 (G0')
|
Quality Score |
146.008 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 133002365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
[ENSMUST00000077730]
[ENSMUST00000077730]
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077730
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077730
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077730
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077730
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124934
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 90.8%
|
Validation Efficiency |
95% (41/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,117,924 (GRCm39) |
|
probably null |
Het |
Cbfa2t3 |
T |
C |
8: 123,370,236 (GRCm39) |
H53R |
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,220,576 (GRCm39) |
F485S |
probably damaging |
Het |
Ctnna1 |
T |
C |
18: 35,287,567 (GRCm39) |
V92A |
probably benign |
Het |
Dlat |
A |
T |
9: 50,556,417 (GRCm39) |
|
probably null |
Het |
Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
Gk5 |
C |
T |
9: 96,058,290 (GRCm39) |
Q424* |
probably null |
Het |
Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
Nop14 |
T |
C |
5: 34,815,295 (GRCm39) |
D85G |
probably damaging |
Het |
Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
Pramel27 |
T |
G |
4: 143,578,155 (GRCm39) |
H87Q |
possibly damaging |
Het |
Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,133,656 (GRCm39) |
T199A |
probably benign |
Het |
Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,506,896 (GRCm39) |
D83G |
probably benign |
Het |
Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn1r29 |
T |
C |
6: 58,285,080 (GRCm39) |
F267L |
probably benign |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
Zfp1 |
T |
C |
8: 112,396,975 (GRCm39) |
F299S |
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 |
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 |
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'- AGCTGAAGCACCCATCCTTC -3'
(R):5'- ACTGGCCTCTCTTGGAGATG -3'
Sequencing Primer
(F):5'- CCTCCCACTGAGTCCCTAAGG -3'
(R):5'- TAGTTCAAGGTGGAAGGGCTC -3'
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Posted On |
2017-06-27 |