Incidental Mutation 'R7161:Pik3c2b'
| ID |
557545 |
| 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 |
045260-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R7161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133033850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1618
(E1618G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: E1618G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: E1618G
| 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 |
|
| Meta Mutation Damage Score |
0.2444 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,964,968 (GRCm39) |
Q443L |
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,745,436 (GRCm39) |
M285K |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,109,208 (GRCm39) |
M1592K |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,155,535 (GRCm39) |
T345S |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,456,534 (GRCm39) |
E526G |
probably damaging |
Het |
| Car13 |
A |
G |
3: 14,710,268 (GRCm39) |
D70G |
probably benign |
Het |
| Castor2 |
C |
A |
5: 134,164,029 (GRCm39) |
T75N |
probably damaging |
Het |
| Ccdc127 |
A |
T |
13: 74,500,996 (GRCm39) |
L4F |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ccr10 |
A |
G |
11: 101,065,104 (GRCm39) |
I142T |
probably benign |
Het |
| Cep126 |
C |
T |
9: 8,087,400 (GRCm39) |
V1005M |
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,301,728 (GRCm39) |
I124T |
probably benign |
Het |
| Coq8a |
A |
G |
1: 179,997,906 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,318,476 (GRCm39) |
K174N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,844,209 (GRCm39) |
V76A |
possibly damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,189 (GRCm39) |
M1077T |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,746,198 (GRCm39) |
K3972* |
probably null |
Het |
| Dnai4 |
G |
A |
4: 102,953,813 (GRCm39) |
P129S |
probably benign |
Het |
| Dusp7 |
T |
A |
9: 106,246,114 (GRCm39) |
S40T |
unknown |
Het |
| Emg1 |
T |
C |
6: 124,682,712 (GRCm39) |
T88A |
probably benign |
Het |
| Fbxo5 |
A |
G |
10: 5,752,043 (GRCm39) |
V190A |
possibly damaging |
Het |
| Fbxw20 |
T |
G |
9: 109,055,048 (GRCm39) |
D167A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,030,609 (GRCm39) |
V562E |
probably damaging |
Het |
| Foxj1 |
C |
G |
11: 116,223,234 (GRCm39) |
G190R |
probably damaging |
Het |
| Gdf15 |
T |
G |
8: 71,083,992 (GRCm39) |
S91R |
possibly damaging |
Het |
| Gm4846 |
C |
A |
1: 166,314,579 (GRCm39) |
V355F |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,144,194 (GRCm39) |
Y776N |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,242,030 (GRCm39) |
R588H |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,762 (GRCm39) |
Y56* |
probably null |
Het |
| Itpr1 |
C |
T |
6: 108,363,601 (GRCm39) |
A741V |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,677 (GRCm39) |
I519K |
probably benign |
Het |
| Kcnh5 |
T |
A |
12: 74,944,483 (GRCm39) |
Q922L |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,755,323 (GRCm39) |
Y103H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,266 (GRCm39) |
E989G |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,102,200 (GRCm39) |
L1466Q |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,655,809 (GRCm39) |
P138L |
probably benign |
Het |
| Lhx1 |
G |
A |
11: 84,410,698 (GRCm39) |
P300S |
probably damaging |
Het |
| Mppe1 |
G |
A |
18: 67,362,842 (GRCm39) |
A131V |
probably benign |
Het |
| Neb |
A |
T |
2: 52,161,604 (GRCm39) |
Y2063N |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,708,546 (GRCm39) |
F740L |
probably benign |
Het |
| Nop10 |
A |
G |
2: 112,092,391 (GRCm39) |
N8S |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,058,374 (GRCm39) |
T20S |
possibly damaging |
Het |
| Or8h7 |
A |
C |
2: 86,720,993 (GRCm39) |
H175Q |
probably benign |
Het |
| Pask |
C |
T |
1: 93,238,627 (GRCm39) |
S1286N |
probably benign |
Het |
| Pcdhgc4 |
A |
T |
18: 37,948,716 (GRCm39) |
E44V |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,695,558 (GRCm39) |
M463T |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,414,596 (GRCm39) |
M714L |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,050,658 (GRCm39) |
N234S |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,116,622 (GRCm39) |
T886S |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,288,064 (GRCm39) |
D30Y |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,553,707 (GRCm39) |
I103F |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,934,183 (GRCm39) |
I206T |
probably benign |
Het |
| Rhcg |
A |
G |
7: 79,267,189 (GRCm39) |
F29S |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,945,803 (GRCm39) |
I89V |
probably benign |
Het |
| Serac1 |
T |
C |
17: 6,115,351 (GRCm39) |
D204G |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,200,892 (GRCm39) |
N175S |
probably null |
Het |
| Slc25a19 |
C |
T |
11: 115,507,373 (GRCm39) |
E250K |
possibly damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,307,303 (GRCm39) |
Y329F |
possibly damaging |
Het |
| Smagp |
T |
C |
15: 100,534,126 (GRCm39) |
|
probably benign |
Het |
| Spats1 |
T |
A |
17: 45,760,095 (GRCm39) |
Q268H |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,717,689 (GRCm39) |
T219A |
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,748,026 (GRCm39) |
M11T |
probably benign |
Het |
| Susd1 |
T |
C |
4: 59,329,581 (GRCm39) |
D669G |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,128,859 (GRCm39) |
Y613H |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,300,633 (GRCm39) |
*439Q |
probably null |
Het |
| Tmed2 |
T |
A |
5: 124,684,983 (GRCm39) |
M133K |
possibly damaging |
Het |
| Trpv5 |
A |
T |
6: 41,637,470 (GRCm39) |
Y370* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,642,588 (GRCm39) |
S13316P |
probably damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,253,292 (GRCm39) |
M381K |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,030,695 (GRCm39) |
Y200H |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,309,143 (GRCm39) |
M790L |
possibly damaging |
Het |
| Zscan25 |
T |
C |
5: 145,223,251 (GRCm39) |
L173P |
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 |
|
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'- TGAGTTCCCTGTGTCTCACG -3'
(R):5'- GATAGCGCTTGACTCTTCCAG -3'
Sequencing Primer
(F):5'- TGTGTCTCACGCTCGCC -3'
(R):5'- ACGGAGGTCAGGTCCACATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation