Incidental Mutation 'R4926:Pik3c2b'
| ID |
379004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3c2b
|
| Ensembl Gene |
ENSMUSG00000026447 |
| Gene Name |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
| Synonyms |
C330011J12Rik, PI3K-C2beta |
| MMRRC Submission |
042527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R4926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133045667-133108687 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 133099626 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1288
(E1288*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077730
AA Change: E1288*
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: E1288*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| 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 |
|---|
| 1700102P08Rik |
A |
T |
9: 108,395,299 (GRCm38) |
D136V |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,300,032 (GRCm38) |
R217W |
probably damaging |
Het |
| Ankrd23 |
A |
T |
1: 36,531,987 (GRCm38) |
H102Q |
probably damaging |
Het |
| Arfip2 |
G |
T |
7: 105,637,944 (GRCm38) |
R138S |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,339,123 (GRCm38) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,257,533 (GRCm38) |
L1499P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,276,179 (GRCm38) |
S110P |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,558,592 (GRCm38) |
|
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 128,980,054 (GRCm38) |
|
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,383,311 (GRCm38) |
S1689P |
probably benign |
Het |
| Corin |
A |
G |
5: 72,372,182 (GRCm38) |
C212R |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,061,153 (GRCm38) |
I42V |
probably benign |
Het |
| Cyp3a25 |
G |
A |
5: 145,991,456 (GRCm38) |
R260C |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,845,791 (GRCm38) |
Y116C |
probably damaging |
Het |
| Eif3a |
A |
G |
19: 60,763,218 (GRCm38) |
|
probably benign |
Het |
| Epop |
T |
C |
11: 97,628,317 (GRCm38) |
D322G |
probably damaging |
Het |
| Eps8l3 |
T |
A |
3: 107,890,688 (GRCm38) |
|
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,376,625 (GRCm38) |
S1669P |
possibly damaging |
Het |
| Faah |
A |
T |
4: 115,999,626 (GRCm38) |
|
probably benign |
Het |
| Fanca |
A |
G |
8: 123,303,985 (GRCm38) |
C453R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 28,086,235 (GRCm38) |
C366S |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,502,415 (GRCm38) |
T124A |
unknown |
Het |
| Foxi3 |
C |
T |
6: 70,957,012 (GRCm38) |
S161L |
probably damaging |
Het |
| Foxo3 |
A |
T |
10: 42,197,024 (GRCm38) |
V499E |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,430,958 (GRCm38) |
|
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,503,170 (GRCm38) |
V90A |
probably damaging |
Het |
| Gm839 |
A |
C |
6: 89,212,599 (GRCm38) |
|
noncoding transcript |
Het |
| Gtf3c2 |
T |
C |
5: 31,169,123 (GRCm38) |
E348G |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,649,801 (GRCm38) |
R551S |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 34,978,223 (GRCm38) |
T413A |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,542,530 (GRCm38) |
Y2297H |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,920,473 (GRCm38) |
I53L |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 46,099,120 (GRCm38) |
V260I |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,530,254 (GRCm38) |
V266A |
probably benign |
Het |
| Lgals3bp |
T |
C |
11: 118,393,955 (GRCm38) |
Y266C |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 116,089,324 (GRCm38) |
V412A |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,017,225 (GRCm38) |
E1023D |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,618,324 (GRCm38) |
L118* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 47,235,011 (GRCm38) |
T303S |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,304,925 (GRCm38) |
E68G |
probably benign |
Het |
| Nckap5 |
A |
C |
1: 126,528,641 (GRCm38) |
|
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,669,894 (GRCm38) |
T339S |
probably damaging |
Het |
| Nrip2 |
A |
C |
6: 128,408,374 (GRCm38) |
H256P |
probably benign |
Het |
| Oas1d |
T |
C |
5: 120,915,768 (GRCm38) |
V97A |
probably benign |
Het |
| Obox2 |
T |
A |
7: 15,397,177 (GRCm38) |
|
probably null |
Het |
| Olfr979 |
T |
C |
9: 40,001,023 (GRCm38) |
|
probably null |
Het |
| Opa1 |
T |
C |
16: 29,648,973 (GRCm38) |
F989S |
possibly damaging |
Het |
| Padi1 |
T |
A |
4: 140,824,847 (GRCm38) |
I429F |
probably damaging |
Het |
| Paics |
A |
G |
5: 76,961,204 (GRCm38) |
D163G |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,341,552 (GRCm38) |
V593D |
possibly damaging |
Het |
| Prpf39 |
A |
G |
12: 65,044,056 (GRCm38) |
I165M |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,321,984 (GRCm38) |
T26A |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,715,195 (GRCm38) |
|
probably null |
Het |
| Rab44 |
C |
T |
17: 29,139,555 (GRCm38) |
A239V |
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,955,736 (GRCm38) |
N52S |
probably benign |
Het |
| Sapcd2 |
T |
A |
2: 25,373,566 (GRCm38) |
|
probably null |
Het |
| Scaf11 |
T |
C |
15: 96,418,242 (GRCm38) |
E1147G |
possibly damaging |
Het |
| Selenoo |
T |
C |
15: 89,099,678 (GRCm38) |
Y595H |
probably damaging |
Het |
| Slc2a5 |
G |
T |
4: 150,120,742 (GRCm38) |
E3* |
probably null |
Het |
| Snw1 |
A |
G |
12: 87,452,658 (GRCm38) |
V391A |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 45,796,217 (GRCm38) |
K755R |
probably benign |
Het |
| Sorbs3 |
G |
T |
14: 70,186,945 (GRCm38) |
P513T |
probably damaging |
Het |
| Sowaha |
T |
A |
11: 53,479,510 (GRCm38) |
E133V |
possibly damaging |
Het |
| Srsf5 |
T |
C |
12: 80,947,301 (GRCm38) |
|
probably benign |
Het |
| St8sia5 |
T |
A |
18: 77,254,782 (GRCm38) |
M396K |
possibly damaging |
Het |
| Tcp11l1 |
T |
C |
2: 104,681,785 (GRCm38) |
I501V |
probably benign |
Het |
| Tert |
A |
G |
13: 73,648,389 (GRCm38) |
K1080E |
possibly damaging |
Het |
| Tescl |
T |
A |
7: 24,333,898 (GRCm38) |
M1L |
possibly damaging |
Het |
| Thop1 |
T |
A |
10: 81,073,367 (GRCm38) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 122,973,206 (GRCm38) |
H80R |
probably damaging |
Het |
| Toe1 |
C |
T |
4: 116,804,532 (GRCm38) |
S480N |
probably damaging |
Het |
| Trap1 |
C |
A |
16: 4,045,488 (GRCm38) |
V557F |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,483,357 (GRCm38) |
E91G |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 29,064,656 (GRCm38) |
H11Y |
possibly damaging |
Het |
| Ttll8 |
C |
A |
15: 88,914,165 (GRCm38) |
G789V |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,258,732 (GRCm38) |
F298S |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,889,400 (GRCm38) |
A243T |
probably benign |
Het |
| Zfp248 |
A |
C |
6: 118,429,826 (GRCm38) |
H267Q |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,275,011 (GRCm38) |
M945L |
probably benign |
Het |
| Zufsp |
T |
C |
10: 33,949,438 (GRCm38) |
D16G |
probably damaging |
Het |
|
| Other mutations in Pik3c2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Pik3c2b
|
APN |
1 |
133,091,618 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01288:Pik3c2b
|
APN |
1 |
133,094,805 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01313:Pik3c2b
|
APN |
1 |
133,071,631 (GRCm38) |
nonsense |
probably null |
|
|
IGL01367:Pik3c2b
|
APN |
1 |
133,105,988 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02379:Pik3c2b
|
APN |
1 |
133,094,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02638:Pik3c2b
|
APN |
1 |
133,077,318 (GRCm38) |
splice site |
probably benign |
|
|
IGL02728:Pik3c2b
|
APN |
1 |
133,092,327 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02992:Pik3c2b
|
APN |
1 |
133,066,980 (GRCm38) |
nonsense |
probably null |
|
|
IGL03121:Pik3c2b
|
APN |
1 |
133,079,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0453:Pik3c2b
|
UTSW |
1 |
133,077,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0518:Pik3c2b
|
UTSW |
1 |
133,105,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0616:Pik3c2b
|
UTSW |
1 |
133,100,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0659:Pik3c2b
|
UTSW |
1 |
133,071,200 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1542:Pik3c2b
|
UTSW |
1 |
133,090,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1716:Pik3c2b
|
UTSW |
1 |
133,094,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1728:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1729:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1730:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1739:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1762:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1783:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1784:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1785:Pik3c2b
|
UTSW |
1 |
133,066,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1816:Pik3c2b
|
UTSW |
1 |
133,101,370 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1897:Pik3c2b
|
UTSW |
1 |
133,066,916 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2006:Pik3c2b
|
UTSW |
1 |
133,066,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2067:Pik3c2b
|
UTSW |
1 |
133,099,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2271:Pik3c2b
|
UTSW |
1 |
133,103,428 (GRCm38) |
missense |
probably benign |
|
|
R2294:Pik3c2b
|
UTSW |
1 |
133,066,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2320:Pik3c2b
|
UTSW |
1 |
133,103,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4735:Pik3c2b
|
UTSW |
1 |
133,067,049 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4948:Pik3c2b
|
UTSW |
1 |
133,099,715 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4997:Pik3c2b
|
UTSW |
1 |
133,105,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5304:Pik3c2b
|
UTSW |
1 |
133,070,408 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5461:Pik3c2b
|
UTSW |
1 |
133,099,702 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5722:Pik3c2b
|
UTSW |
1 |
133,103,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5971:Pik3c2b
|
UTSW |
1 |
133,074,627 (GRCm38) |
splice site |
probably null |
|
|
R5980:Pik3c2b
|
UTSW |
1 |
133,088,308 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6036:Pik3c2b
|
UTSW |
1 |
133,090,713 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6138:Pik3c2b
|
UTSW |
1 |
133,074,627 (GRCm38) |
splice site |
probably null |
|
|
R6223:Pik3c2b
|
UTSW |
1 |
133,070,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6273:Pik3c2b
|
UTSW |
1 |
133,066,711 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6742:Pik3c2b
|
UTSW |
1 |
133,075,821 (GRCm38) |
missense |
probably benign |
|
|
R6954:Pik3c2b
|
UTSW |
1 |
133,066,303 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6998:Pik3c2b
|
UTSW |
1 |
133,102,372 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7103:Pik3c2b
|
UTSW |
1 |
133,105,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7133:Pik3c2b
|
UTSW |
1 |
133,090,234 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7161:Pik3c2b
|
UTSW |
1 |
133,106,112 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7183:Pik3c2b
|
UTSW |
1 |
133,066,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7193:Pik3c2b
|
UTSW |
1 |
133,079,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7252:Pik3c2b
|
UTSW |
1 |
133,094,734 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7263:Pik3c2b
|
UTSW |
1 |
133,090,202 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7404:Pik3c2b
|
UTSW |
1 |
133,090,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7709:Pik3c2b
|
UTSW |
1 |
133,079,841 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7712:Pik3c2b
|
UTSW |
1 |
133,085,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Pik3c2b
|
UTSW |
1 |
133,102,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7831:Pik3c2b
|
UTSW |
1 |
133,071,242 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7913:Pik3c2b
|
UTSW |
1 |
133,090,061 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7916:Pik3c2b
|
UTSW |
1 |
133,100,904 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7960:Pik3c2b
|
UTSW |
1 |
133,103,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7981:Pik3c2b
|
UTSW |
1 |
133,075,809 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8346:Pik3c2b
|
UTSW |
1 |
133,090,246 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8938:Pik3c2b
|
UTSW |
1 |
133,088,330 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8997:Pik3c2b
|
UTSW |
1 |
133,090,779 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9416:Pik3c2b
|
UTSW |
1 |
133,077,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9598:Pik3c2b
|
UTSW |
1 |
133,084,987 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9621:Pik3c2b
|
UTSW |
1 |
133,071,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9742:Pik3c2b
|
UTSW |
1 |
133,094,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9776:Pik3c2b
|
UTSW |
1 |
133,090,850 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9786:Pik3c2b
|
UTSW |
1 |
133,091,600 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
U15987:Pik3c2b
|
UTSW |
1 |
133,074,627 (GRCm38) |
splice site |
probably null |
|
|
X0060:Pik3c2b
|
UTSW |
1 |
133,084,936 (GRCm38) |
missense |
probably benign |
0.18 |
|
Z1176:Pik3c2b
|
UTSW |
1 |
133,099,686 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Pik3c2b
|
UTSW |
1 |
133,066,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCCCTAAGGGCATCCAG -3'
(R):5'- CCTTAACGTTTGGGCTAAGC -3'
Sequencing Primer
(F):5'- GGGGCCTGACCTCTTACTTTAG -3'
(R):5'- GCTAAGCCTGTCCCACTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation