Incidental Mutation 'R5304:Pik3c2b'
| ID |
475495 |
| 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 |
042887-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R5304 (G1)
|
| Quality Score |
39 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132998146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 341
(M341L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
[ENSMUST00000153707]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077730
AA Change: M341L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: M341L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153707
|
| SMART Domains |
Protein: ENSMUSP00000115469
Gene: ENSMUSG00000026447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186515
|
| Meta Mutation Damage Score |
0.0870 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (87/88) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
T |
11: 7,014,198 (GRCm39) |
A200V |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,726,372 (GRCm39) |
D551G |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,144,538 (GRCm39) |
V340A |
probably damaging |
Het |
| Amy1 |
C |
A |
3: 113,352,013 (GRCm39) |
C393F |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,794,545 (GRCm39) |
V310A |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,063 (GRCm39) |
S686G |
probably null |
Het |
| Arid4b |
T |
A |
13: 14,361,514 (GRCm39) |
N659K |
probably benign |
Het |
| Asz1 |
C |
T |
6: 18,076,619 (GRCm39) |
R191Q |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,879,383 (GRCm39) |
I947V |
probably damaging |
Het |
| AW011738 |
G |
A |
4: 156,287,969 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
G |
T |
2: 143,669,211 (GRCm39) |
T456K |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,883,864 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,036,569 (GRCm39) |
C583Y |
probably damaging |
Het |
| Ceacam23 |
A |
C |
7: 17,636,617 (GRCm39) |
E231D |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,656,968 (GRCm39) |
L3028Q |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 15,975,213 (GRCm39) |
S1088G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,990,530 (GRCm39) |
H1694L |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,493,735 (GRCm39) |
E580* |
probably null |
Het |
| Dip2a |
A |
T |
10: 76,130,357 (GRCm39) |
M622K |
possibly damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,122,202 (GRCm39) |
H877L |
probably damaging |
Het |
| Egfr |
G |
T |
11: 16,834,260 (GRCm39) |
M122I |
probably benign |
Het |
| Etfbkmt |
T |
A |
6: 149,048,704 (GRCm39) |
D114E |
probably damaging |
Het |
| Eva1c |
T |
C |
16: 90,666,551 (GRCm39) |
L158P |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,720,542 (GRCm39) |
V287M |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,654 (GRCm39) |
Y471H |
probably damaging |
Het |
| Fermt1 |
T |
A |
2: 132,783,986 (GRCm39) |
T8S |
probably benign |
Het |
| Fgfr2 |
G |
T |
7: 129,769,504 (GRCm39) |
P630T |
probably damaging |
Het |
| Fmo5 |
G |
A |
3: 97,558,938 (GRCm39) |
G466E |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,215 (GRCm39) |
I280M |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,511,174 (GRCm39) |
K443T |
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,003 (GRCm39) |
F145S |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 86,996,902 (GRCm39) |
H300L |
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,869,326 (GRCm39) |
Q340R |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,149 (GRCm39) |
D140G |
unknown |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,683 (GRCm39) |
Q365L |
probably benign |
Het |
| Lrwd1 |
G |
T |
5: 136,160,004 (GRCm39) |
T353K |
possibly damaging |
Het |
| Lsm14a |
A |
T |
7: 34,053,154 (GRCm39) |
S240R |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 19,983,984 (GRCm39) |
I870V |
probably benign |
Het |
| Matcap2 |
A |
T |
9: 22,335,528 (GRCm39) |
T49S |
probably benign |
Het |
| Mmp17 |
A |
T |
5: 129,671,678 (GRCm39) |
E76V |
probably null |
Het |
| Mphosph10 |
A |
G |
7: 64,038,732 (GRCm39) |
F272L |
probably damaging |
Het |
| Mtcl2 |
G |
A |
2: 156,865,737 (GRCm39) |
Q1127* |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,655,071 (GRCm39) |
K380R |
probably damaging |
Het |
| Myo3b |
C |
T |
2: 70,257,232 (GRCm39) |
P1282L |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,682,238 (GRCm39) |
|
probably benign |
Het |
| Ola1 |
T |
C |
2: 73,029,778 (GRCm39) |
I114V |
probably damaging |
Het |
| Or4c3d |
T |
A |
2: 89,882,257 (GRCm39) |
H137L |
probably benign |
Het |
| Or8k28 |
T |
A |
2: 86,285,779 (GRCm39) |
T279S |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,184,100 (GRCm39) |
D204E |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,777,230 (GRCm39) |
M679L |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,132 (GRCm39) |
T498S |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,562,459 (GRCm39) |
S15P |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,984 (GRCm39) |
Y502C |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,050 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,548,200 (GRCm39) |
S505P |
probably benign |
Het |
| Rgmb |
G |
T |
17: 16,040,990 (GRCm39) |
S199* |
probably null |
Het |
| Rgsl1 |
T |
C |
1: 153,703,238 (GRCm39) |
T173A |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,105,742 (GRCm39) |
K102N |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Rsad2 |
A |
T |
12: 26,500,681 (GRCm39) |
V202E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,629,141 (GRCm39) |
N186S |
probably damaging |
Het |
| Sorbs3 |
G |
A |
14: 70,422,345 (GRCm39) |
R622* |
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,743,900 (GRCm39) |
Y446C |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 129,605,980 (GRCm39) |
R574* |
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,217 (GRCm39) |
Y275* |
probably null |
Het |
| Topors |
A |
T |
4: 40,262,541 (GRCm39) |
S248T |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,858,694 (GRCm39) |
Y239F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,548,527 (GRCm39) |
Y30179F |
possibly damaging |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,724 (GRCm39) |
F399L |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,088,995 (GRCm39) |
I317F |
probably damaging |
Het |
| Usp1 |
T |
C |
4: 98,822,855 (GRCm39) |
V723A |
probably benign |
Het |
| Usp34 |
T |
G |
11: 23,293,616 (GRCm39) |
L237V |
probably damaging |
Het |
| Vgf |
A |
T |
5: 137,061,140 (GRCm39) |
D434V |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,100 (GRCm39) |
N97S |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,751 (GRCm39) |
L899P |
possibly damaging |
Het |
| Vps33b |
A |
T |
7: 79,924,001 (GRCm39) |
I41F |
probably damaging |
Het |
| Zap70 |
A |
T |
1: 36,817,299 (GRCm39) |
H210L |
probably damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,770,835 (GRCm39) |
D300G |
probably benign |
Het |
| Zfp958 |
C |
A |
8: 4,676,196 (GRCm39) |
H55N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACAGGCTGTGGTTTCAC -3'
(R):5'- CTGCAAGAGAAAAGCCTGC -3'
Sequencing Primer
(F):5'- GTTTCACATCTTGGGAGGCCC -3'
(R):5'- TAGAGACCTGGAATCCTCCCAACCAC -3'
|
| Posted On |
2017-05-02 |
Incidental Mutation