Incidental Mutation 'R0518:Pik3c2b'
| ID |
48265 |
| 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 |
038711-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R0518 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133033730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 1578
(P1578H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: P1578H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: P1578H
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,181,112 (GRCm39) |
|
probably null |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Acsm5 |
T |
C |
7: 119,135,023 (GRCm39) |
V327A |
possibly damaging |
Het |
| Agt |
C |
A |
8: 125,283,839 (GRCm39) |
E427* |
probably null |
Het |
| Akr1c14 |
T |
C |
13: 4,131,016 (GRCm39) |
L236S |
probably damaging |
Het |
| Ammecr1l |
C |
T |
18: 31,904,954 (GRCm39) |
S65L |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,367,432 (GRCm39) |
D36G |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,902 (GRCm39) |
C766S |
probably benign |
Het |
| Arhgef16 |
G |
T |
4: 154,375,491 (GRCm39) |
P168T |
probably damaging |
Het |
| Asic1 |
C |
T |
15: 99,596,700 (GRCm39) |
R499C |
probably damaging |
Het |
| Atpsckmt |
T |
G |
15: 31,606,103 (GRCm39) |
S20R |
probably benign |
Het |
| Bank1 |
C |
T |
3: 135,919,703 (GRCm39) |
C364Y |
probably damaging |
Het |
| Bmerb1 |
T |
A |
16: 13,804,676 (GRCm39) |
S8T |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,004,597 (GRCm39) |
D132E |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,782,089 (GRCm39) |
R217Q |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,322,528 (GRCm39) |
I284T |
probably benign |
Het |
| Coa3 |
T |
A |
11: 101,169,716 (GRCm39) |
K13M |
probably damaging |
Het |
| Col13a1 |
A |
T |
10: 61,698,525 (GRCm39) |
M512K |
unknown |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,403 (GRCm39) |
|
probably null |
Het |
| Cryba2 |
T |
C |
1: 74,929,284 (GRCm39) |
Y153C |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,292,000 (GRCm39) |
V93A |
probably damaging |
Het |
| Ctsl |
G |
A |
13: 64,513,032 (GRCm39) |
L297F |
possibly damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,135 (GRCm39) |
H274P |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,761,313 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
A |
C |
4: 102,921,727 (GRCm39) |
Y464* |
probably null |
Het |
| Dnd1 |
A |
G |
18: 36,897,096 (GRCm39) |
V350A |
possibly damaging |
Het |
| Dsg1b |
A |
T |
18: 20,521,221 (GRCm39) |
Q26L |
probably benign |
Het |
| Fam20b |
C |
A |
1: 156,515,026 (GRCm39) |
V280F |
possibly damaging |
Het |
| Foxb2 |
G |
T |
19: 16,849,820 (GRCm39) |
C395* |
probably null |
Het |
| Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
| Gm9930 |
A |
T |
10: 9,410,547 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac7 |
G |
A |
15: 97,704,380 (GRCm39) |
Q497* |
probably null |
Het |
| Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
| Hsd3b7 |
A |
G |
7: 127,402,251 (GRCm39) |
T330A |
probably benign |
Het |
| Il20ra |
A |
T |
10: 19,635,388 (GRCm39) |
Q543L |
probably damaging |
Het |
| Itk |
T |
A |
11: 46,251,115 (GRCm39) |
D163V |
probably damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,400,916 (GRCm39) |
L688R |
probably damaging |
Het |
| Kng1 |
G |
A |
16: 22,879,232 (GRCm39) |
A45T |
possibly damaging |
Het |
| Kti12 |
T |
A |
4: 108,705,776 (GRCm39) |
V230E |
possibly damaging |
Het |
| Lhfpl7 |
T |
A |
5: 113,383,873 (GRCm39) |
L97* |
probably null |
Het |
| Mgat5 |
T |
A |
1: 127,312,584 (GRCm39) |
I241N |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,445,067 (GRCm39) |
N321S |
probably benign |
Het |
| Mllt10 |
T |
G |
2: 18,076,017 (GRCm39) |
|
probably null |
Het |
| Ms4a1 |
C |
A |
19: 11,236,043 (GRCm39) |
|
probably null |
Het |
| Ngly1 |
C |
T |
14: 16,290,774 (GRCm38) |
Q419* |
probably null |
Het |
| Nipsnap3b |
T |
A |
4: 53,021,343 (GRCm39) |
F243I |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,781,876 (GRCm39) |
|
probably null |
Het |
| Or10a2 |
T |
A |
7: 106,673,965 (GRCm39) |
L310Q |
possibly damaging |
Het |
| Or2y11 |
C |
T |
11: 49,443,291 (GRCm39) |
T239M |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,319,696 (GRCm39) |
I181F |
possibly damaging |
Het |
| Or8c20 |
A |
C |
9: 38,260,499 (GRCm39) |
N40T |
probably damaging |
Het |
| P2ry14 |
T |
A |
3: 59,022,625 (GRCm39) |
E287D |
probably damaging |
Het |
| Pank4 |
A |
T |
4: 155,061,082 (GRCm39) |
R510S |
possibly damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,629,915 (GRCm39) |
V347E |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,427 (GRCm39) |
E265G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,814,193 (GRCm39) |
S4188G |
probably benign |
Het |
| Ppp1r26 |
A |
G |
2: 28,342,314 (GRCm39) |
D648G |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,726,621 (GRCm39) |
|
probably null |
Het |
| Rab24 |
A |
T |
13: 55,468,738 (GRCm39) |
|
probably null |
Het |
| Rap1gap2 |
A |
T |
11: 74,332,592 (GRCm39) |
M71K |
probably damaging |
Het |
| Rergl |
T |
G |
6: 139,473,524 (GRCm39) |
K42T |
probably damaging |
Het |
| Rigi |
C |
T |
4: 40,216,354 (GRCm39) |
|
probably null |
Het |
| Septin5 |
T |
C |
16: 18,443,647 (GRCm39) |
T92A |
probably benign |
Het |
| Ski |
A |
G |
4: 155,243,743 (GRCm39) |
|
probably null |
Het |
| Slc17a8 |
A |
G |
10: 89,412,192 (GRCm39) |
S414P |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,979,228 (GRCm39) |
I71N |
probably damaging |
Het |
| Syne2 |
A |
C |
12: 76,155,636 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
C |
A |
1: 156,090,511 (GRCm39) |
W845L |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,365,389 (GRCm39) |
I192V |
possibly damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,505 (GRCm39) |
D292A |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,162,876 (GRCm39) |
D45A |
probably damaging |
Het |
| Trim17 |
T |
A |
11: 58,859,320 (GRCm39) |
V178E |
probably damaging |
Het |
| Trim9 |
A |
T |
12: 70,393,359 (GRCm39) |
L195Q |
probably damaging |
Het |
| Ttc27 |
A |
T |
17: 75,163,544 (GRCm39) |
R717S |
possibly damaging |
Het |
| Upk2 |
G |
T |
9: 44,365,418 (GRCm39) |
P50Q |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,307,880 (GRCm39) |
C2319S |
probably benign |
Het |
| Vmn1r4 |
G |
T |
6: 56,933,883 (GRCm39) |
C129F |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,178 (GRCm39) |
D184V |
probably damaging |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,693 (GRCm39) |
I133S |
possibly damaging |
Het |
| Zfp628 |
A |
T |
7: 4,922,939 (GRCm39) |
Q387L |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
|
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 |
|
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'- GCTGCCCTGTATGGAGAATGATCAG -3'
(R):5'- AAGCAGGCATTGCTCCCTTGAC -3'
Sequencing Primer
(F):5'- GAAGCTCCAATAAAtataatcccagc -3'
(R):5'- CCTTCCTAGCAAAGGAGTTAGGTG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation