Incidental Mutation 'R9598:Pik3c2b'
| ID |
723365 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R9598 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 133012725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,604 (GRCm39) |
I302V |
probably benign |
Het |
| Ackr2 |
A |
C |
9: 121,737,657 (GRCm39) |
T11P |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,149 (GRCm39) |
N811S |
probably benign |
Het |
| Atm |
T |
C |
9: 53,431,381 (GRCm39) |
I326V |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,784,764 (GRCm39) |
C146S |
possibly damaging |
Het |
| Cdh23 |
A |
T |
10: 60,214,574 (GRCm39) |
F1480L |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,322,578 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,983,494 (GRCm39) |
N504K |
probably benign |
Het |
| Chrna4 |
G |
A |
2: 180,679,264 (GRCm39) |
S61L |
probably damaging |
Het |
| Clcn3 |
G |
T |
8: 61,366,061 (GRCm39) |
T864K |
unknown |
Het |
| Cym |
A |
C |
3: 107,126,941 (GRCm39) |
D71E |
possibly damaging |
Het |
| Ddx19b |
T |
C |
8: 111,747,673 (GRCm39) |
D87G |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,292,621 (GRCm39) |
V3002A |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,946,997 (GRCm39) |
G408S |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,625,939 (GRCm39) |
D66E |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,672,789 (GRCm39) |
D820G |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,153,014 (GRCm39) |
V92I |
possibly damaging |
Het |
| Dusp16 |
T |
A |
6: 134,695,185 (GRCm39) |
T549S |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,827,381 (GRCm39) |
K91* |
probably null |
Het |
| Flii |
A |
G |
11: 60,617,991 (GRCm39) |
F9L |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,436,308 (GRCm39) |
S760P |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,210 (GRCm39) |
V378E |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,284,740 (GRCm39) |
S50P |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,718 (GRCm39) |
|
probably benign |
Het |
| Gm10188 |
T |
C |
1: 132,157,033 (GRCm39) |
D111G |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,247,876 (GRCm39) |
E101V |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,332,197 (GRCm39) |
M525I |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,239,738 (GRCm39) |
T731S |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,751,522 (GRCm39) |
Y847C |
probably damaging |
Het |
| Igfbpl1 |
C |
A |
4: 45,815,472 (GRCm39) |
L221F |
probably null |
Het |
| Ighv1-12 |
A |
G |
12: 114,579,757 (GRCm39) |
Y22H |
probably benign |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,866,767 (GRCm39) |
H335Q |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 24,016,707 (GRCm39) |
D287G |
probably benign |
Het |
| Mfsd14b |
G |
A |
13: 65,214,522 (GRCm39) |
R477W |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,607,148 (GRCm39) |
S131T |
possibly damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,844,848 (GRCm39) |
D171E |
probably benign |
Het |
| Ndufb5 |
G |
T |
3: 32,795,881 (GRCm39) |
L24F |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,278,291 (GRCm39) |
I45V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,753,302 (GRCm39) |
M69R |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,633 (GRCm39) |
R290* |
probably null |
Het |
| Or5d39 |
A |
C |
2: 87,979,935 (GRCm39) |
C143G |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,821 (GRCm39) |
K304I |
possibly damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,413 (GRCm39) |
V111E |
possibly damaging |
Het |
| Parva |
T |
A |
7: 112,187,753 (GRCm39) |
V350D |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,434 (GRCm39) |
D190G |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,985,484 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,571,069 (GRCm39) |
N551D |
probably benign |
Het |
| Rb1cc1 |
G |
A |
1: 6,310,189 (GRCm39) |
V196I |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,270 (GRCm39) |
V54A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,044,102 (GRCm39) |
E537K |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Shtn1 |
T |
A |
19: 59,026,735 (GRCm39) |
I119F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,266,358 (GRCm39) |
|
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,819,567 (GRCm39) |
D212G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,994,608 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,489,718 (GRCm39) |
K403R |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,816,019 (GRCm39) |
V788A |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,613 (GRCm39) |
H253N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,328,360 (GRCm39) |
S367L |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,162,292 (GRCm39) |
E814G |
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 |
|
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'- AGGCTGTTGACTTTGATCCCC -3'
(R):5'- CCTGCCAGGTTACATCAATAGTCC -3'
Sequencing Primer
(F):5'- GATCCCCTTGTTTCCTAGGATCTG -3'
(R):5'- CAGGTTACATCAATAGTCCGGGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation