Incidental Mutation 'R7981:Pik3c2b'
ID |
651192 |
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 |
046022-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R7981 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 133003547 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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,784,360 (GRCm39) |
F278I |
probably damaging |
Het |
Abca8a |
T |
C |
11: 109,980,739 (GRCm39) |
T100A |
probably benign |
Het |
Adam34l |
A |
G |
8: 44,078,850 (GRCm39) |
F458S |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,094,588 (GRCm39) |
T740A |
unknown |
Het |
Aldh1a2 |
A |
T |
9: 71,171,102 (GRCm39) |
I197F |
probably damaging |
Het |
Ankrd28 |
T |
C |
14: 31,424,114 (GRCm39) |
T1009A |
probably benign |
Het |
Antxrl |
T |
C |
14: 33,787,838 (GRCm39) |
V287A |
probably damaging |
Het |
Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,938,562 (GRCm39) |
V30A |
possibly damaging |
Het |
Ccdc150 |
A |
T |
1: 54,407,551 (GRCm39) |
K1109M |
probably damaging |
Het |
Ccdc28a |
A |
G |
10: 18,094,127 (GRCm39) |
L164P |
probably benign |
Het |
Cnot1 |
C |
T |
8: 96,489,797 (GRCm39) |
V469M |
probably damaging |
Het |
Col16a1 |
T |
G |
4: 129,980,347 (GRCm39) |
|
probably null |
Het |
Coq9 |
A |
G |
8: 95,569,285 (GRCm39) |
H39R |
probably benign |
Het |
Crh |
T |
A |
3: 19,748,216 (GRCm39) |
E142V |
probably benign |
Het |
Depdc1a |
A |
G |
3: 159,226,488 (GRCm39) |
N265S |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,052,929 (GRCm39) |
|
probably null |
Het |
Gcc1 |
G |
A |
6: 28,419,140 (GRCm39) |
L398F |
probably benign |
Het |
Gde1 |
T |
C |
7: 118,288,264 (GRCm39) |
T320A |
probably damaging |
Het |
Gemin5 |
T |
C |
11: 58,036,231 (GRCm39) |
D704G |
probably damaging |
Het |
Gfi1 |
G |
A |
5: 107,873,543 (GRCm39) |
|
probably benign |
Het |
Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
Krtap6-2 |
T |
C |
16: 89,216,562 (GRCm39) |
Y135C |
unknown |
Het |
Lpcat2 |
T |
C |
8: 93,582,182 (GRCm39) |
S34P |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
Mbl2 |
C |
A |
19: 30,216,737 (GRCm39) |
T183K |
probably damaging |
Het |
Mri1 |
A |
C |
8: 84,983,792 (GRCm39) |
V33G |
possibly damaging |
Het |
Mrps7 |
T |
C |
11: 115,497,687 (GRCm39) |
M184T |
possibly damaging |
Het |
Mug1 |
A |
T |
6: 121,858,723 (GRCm39) |
Y1147F |
probably damaging |
Het |
N4bp2 |
C |
T |
5: 65,969,485 (GRCm39) |
H1416Y |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,366,092 (GRCm39) |
F487S |
probably damaging |
Het |
Nin |
C |
T |
12: 70,089,591 (GRCm39) |
V1275I |
|
Het |
Or4c116 |
A |
G |
2: 88,942,400 (GRCm39) |
F152S |
probably damaging |
Het |
Or55b3 |
A |
T |
7: 102,127,036 (GRCm39) |
Y14N |
probably damaging |
Het |
Pkn1 |
G |
T |
8: 84,407,637 (GRCm39) |
N463K |
probably damaging |
Het |
Pramel24 |
T |
G |
4: 143,453,452 (GRCm39) |
F187V |
probably benign |
Het |
Rab11fip3 |
C |
T |
17: 26,216,963 (GRCm39) |
S816N |
probably damaging |
Het |
Rassf4 |
G |
T |
6: 116,617,218 (GRCm39) |
D262E |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,311,384 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
G |
6: 48,445,428 (GRCm39) |
T2290A |
probably benign |
Het |
Sumf1 |
A |
G |
6: 108,129,186 (GRCm39) |
|
probably null |
Het |
Syne1 |
T |
C |
10: 5,179,248 (GRCm39) |
K4409E |
probably benign |
Het |
Tasor |
T |
C |
14: 27,168,373 (GRCm39) |
V305A |
possibly damaging |
Het |
Tmco4 |
T |
G |
4: 138,785,772 (GRCm39) |
L614R |
probably damaging |
Het |
Tmem67 |
G |
T |
4: 12,070,592 (GRCm39) |
N245K |
probably damaging |
Het |
Trim58 |
T |
C |
11: 58,542,138 (GRCm39) |
V366A |
probably benign |
Het |
Vmn1r123 |
T |
C |
7: 20,896,914 (GRCm39) |
S269P |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,327,887 (GRCm39) |
S494T |
probably benign |
Het |
Zbtb26 |
T |
A |
2: 37,326,887 (GRCm39) |
I50L |
possibly 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 |
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'- TAGCCATGAGGAAAGGACCC -3'
(R):5'- AGCACCTTCTCACACACTTG -3'
Sequencing Primer
(F):5'- AAGGACCCCTTTTCCATCTTCATGG -3'
(R):5'- CCCCACAGCCAGATGTTTG -3'
|
Posted On |
2020-09-15 |