Incidental Mutation 'R7263:Pik3c2b'
ID |
564724 |
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 |
045388-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R7263 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133017940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 934
(P934L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: P934L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: P934L
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: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
96% (67/70) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
C |
A |
3: 121,847,843 (GRCm39) |
H55N |
probably damaging |
Het |
Acan |
G |
T |
7: 78,742,066 (GRCm39) |
V488L |
probably damaging |
Het |
Adam12 |
T |
C |
7: 133,521,240 (GRCm39) |
E638G |
possibly damaging |
Het |
Adamts20 |
T |
A |
15: 94,220,772 (GRCm39) |
Q1387L |
possibly damaging |
Het |
Adamts3 |
G |
T |
5: 89,825,601 (GRCm39) |
D1079E |
probably benign |
Het |
Barx1 |
G |
T |
13: 48,818,555 (GRCm39) |
G93C |
probably damaging |
Het |
Carmil2 |
C |
T |
8: 106,419,677 (GRCm39) |
R828C |
probably damaging |
Het |
Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
Ccdc159 |
T |
C |
9: 21,843,007 (GRCm39) |
M148T |
probably benign |
Het |
Cdk5rap1 |
T |
A |
2: 154,202,652 (GRCm39) |
N193Y |
probably benign |
Het |
Csnk1g2 |
G |
A |
10: 80,470,332 (GRCm39) |
G15D |
probably damaging |
Het |
Dach1 |
T |
C |
14: 98,406,295 (GRCm39) |
S151G |
probably benign |
Het |
Elf5 |
C |
A |
2: 103,269,645 (GRCm39) |
N75K |
probably benign |
Het |
Elp3 |
T |
C |
14: 65,802,782 (GRCm39) |
D272G |
probably damaging |
Het |
Epb41l1 |
T |
A |
2: 156,337,043 (GRCm39) |
|
probably null |
Het |
Epha6 |
A |
G |
16: 59,596,028 (GRCm39) |
Y888H |
probably damaging |
Het |
Fibcd1 |
T |
C |
2: 31,707,222 (GRCm39) |
Y345C |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 102,690,963 (GRCm39) |
E347K |
possibly damaging |
Het |
Gse1 |
A |
G |
8: 121,300,910 (GRCm39) |
D892G |
unknown |
Het |
Gtpbp6 |
A |
T |
5: 110,251,915 (GRCm39) |
I506N |
probably benign |
Het |
Hivep1 |
T |
A |
13: 42,311,668 (GRCm39) |
F1303I |
possibly damaging |
Het |
Il21r |
A |
G |
7: 125,232,077 (GRCm39) |
T502A |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,749,834 (GRCm39) |
T997A |
possibly damaging |
Het |
Invs |
C |
A |
4: 48,396,381 (GRCm39) |
N351K |
probably damaging |
Het |
Iqcm |
A |
G |
8: 76,489,701 (GRCm39) |
T390A |
probably benign |
Het |
Iqcn |
A |
G |
8: 71,163,425 (GRCm39) |
N873D |
possibly damaging |
Het |
Kcnh4 |
C |
T |
11: 100,632,643 (GRCm39) |
G948D |
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,566,314 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
A |
G |
12: 36,258,611 (GRCm39) |
V82A |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,271,943 (GRCm39) |
L6535Q |
probably damaging |
Het |
Ncor2 |
G |
C |
5: 125,109,196 (GRCm39) |
L585V |
|
Het |
Nipal2 |
G |
C |
15: 34,578,904 (GRCm39) |
Y298* |
probably null |
Het |
Nipsnap1 |
C |
T |
11: 4,832,960 (GRCm39) |
|
probably benign |
Het |
Or12e1 |
T |
A |
2: 87,022,476 (GRCm39) |
C148* |
probably null |
Het |
Or4x12-ps1 |
T |
C |
2: 89,916,332 (GRCm39) |
I158V |
not run |
Het |
Or51g1 |
A |
T |
7: 102,633,524 (GRCm39) |
Y282* |
probably null |
Het |
Pcdhga4 |
C |
T |
18: 37,819,873 (GRCm39) |
T474I |
probably benign |
Het |
Pdp1 |
G |
T |
4: 11,960,821 (GRCm39) |
Q516K |
possibly damaging |
Het |
Pp2d1 |
A |
G |
17: 53,822,358 (GRCm39) |
I236T |
probably benign |
Het |
Pygm |
G |
A |
19: 6,438,357 (GRCm39) |
R278H |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,520,363 (GRCm39) |
C215* |
probably null |
Het |
Rgs22 |
A |
G |
15: 36,015,789 (GRCm39) |
S1156P |
possibly damaging |
Het |
Rgs9bp |
T |
C |
7: 35,284,126 (GRCm39) |
T174A |
probably damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,667 (GRCm39) |
Y130* |
probably null |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Serpinb6e |
A |
T |
13: 34,022,923 (GRCm39) |
F153L |
probably benign |
Het |
Slc22a1 |
A |
T |
17: 12,885,587 (GRCm39) |
Y200N |
probably damaging |
Het |
Slc22a22 |
C |
A |
15: 57,113,107 (GRCm39) |
M377I |
probably benign |
Het |
Slc36a4 |
A |
G |
9: 15,633,452 (GRCm39) |
|
probably null |
Het |
Slc39a6 |
A |
G |
18: 24,734,260 (GRCm39) |
V143A |
probably benign |
Het |
Slf2 |
G |
A |
19: 44,926,863 (GRCm39) |
|
probably null |
Het |
Sowaha |
T |
C |
11: 53,370,485 (GRCm39) |
K84E |
probably benign |
Het |
Spef2 |
T |
G |
15: 9,653,098 (GRCm39) |
|
probably null |
Het |
Sphkap |
A |
T |
1: 83,254,399 (GRCm39) |
F1117I |
probably damaging |
Het |
Tas2r113 |
T |
C |
6: 132,870,539 (GRCm39) |
I189T |
possibly damaging |
Het |
Tescl |
T |
C |
7: 24,033,247 (GRCm39) |
E26G |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,854,150 (GRCm39) |
I1847F |
probably damaging |
Het |
Uba1y |
T |
A |
Y: 822,200 (GRCm39) |
C178S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,175,526 (GRCm39) |
V1208D |
possibly damaging |
Het |
Usp13 |
G |
C |
3: 32,949,000 (GRCm39) |
A446P |
probably damaging |
Het |
Usp7 |
A |
T |
16: 8,514,588 (GRCm39) |
C722S |
possibly damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,156,535 (GRCm39) |
S280G |
probably benign |
Het |
Vmn2r84 |
T |
C |
10: 130,225,077 (GRCm39) |
K478E |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,824,952 (GRCm39) |
L311I |
probably benign |
Het |
Zfp180 |
G |
T |
7: 23,805,125 (GRCm39) |
E515* |
probably null |
Het |
Zfp518b |
A |
G |
5: 38,829,671 (GRCm39) |
I778T |
probably damaging |
Het |
Zfp800 |
A |
T |
6: 28,243,662 (GRCm39) |
H434Q |
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 |
|
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 |
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'- CAAGGCTCTAACCTCTTTTGCAG -3'
(R):5'- CAACATCCTGGAGCCTGATCTC -3'
Sequencing Primer
(F):5'- GATCGGCTCCCTCTCAGATG -3'
(R):5'- TGGAGCCTGATCTCGTAGCTC -3'
|
Posted On |
2019-06-26 |