Incidental Mutation 'R1716:Pik3c2b'
ID |
190978 |
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 |
039749-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R1716 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 133022564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1169
(Y1169N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: Y1169N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: Y1169N
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,731,946 (GRCm39) |
T2A |
unknown |
Het |
Adgrf3 |
T |
A |
5: 30,402,549 (GRCm39) |
Q493L |
probably benign |
Het |
Ak6 |
T |
C |
13: 100,792,177 (GRCm39) |
S207P |
probably benign |
Het |
Ang |
A |
G |
14: 51,338,937 (GRCm39) |
D26G |
probably benign |
Het |
Ang |
T |
C |
14: 51,338,957 (GRCm39) |
F33L |
probably damaging |
Het |
Arhgef38 |
T |
A |
3: 132,846,598 (GRCm39) |
Y389F |
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Bicd2 |
C |
A |
13: 49,531,786 (GRCm39) |
H343N |
probably benign |
Het |
Casp4 |
G |
A |
9: 5,308,919 (GRCm39) |
|
probably null |
Het |
Cd22 |
A |
G |
7: 30,577,103 (GRCm39) |
F68S |
probably damaging |
Het |
Cd46 |
T |
A |
1: 194,760,117 (GRCm39) |
Q245L |
probably benign |
Het |
Cntnap2 |
A |
T |
6: 47,084,826 (GRCm39) |
R1096* |
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,909,816 (GRCm39) |
V763A |
probably damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,805,776 (GRCm39) |
T171A |
probably benign |
Het |
Defa30 |
A |
G |
8: 21,625,431 (GRCm39) |
Y65C |
probably damaging |
Het |
Defb18 |
A |
T |
1: 18,306,875 (GRCm39) |
M27K |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,923,424 (GRCm39) |
S4071P |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,230,943 (GRCm39) |
D1400E |
probably damaging |
Het |
Dpysl5 |
C |
T |
5: 30,935,338 (GRCm39) |
T147I |
probably benign |
Het |
Dsg4 |
C |
T |
18: 20,595,518 (GRCm39) |
R574* |
probably null |
Het |
Entrep2 |
A |
T |
7: 64,426,633 (GRCm39) |
|
probably null |
Het |
Epm2a |
A |
G |
10: 11,324,580 (GRCm39) |
E223G |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,748,492 (GRCm39) |
S75P |
probably damaging |
Het |
Fbxw15 |
T |
A |
9: 109,386,204 (GRCm39) |
M312L |
probably benign |
Het |
Fcgr4 |
C |
T |
1: 170,847,672 (GRCm39) |
T90I |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,700,584 (GRCm39) |
D201E |
probably benign |
Het |
Gadl1 |
A |
T |
9: 115,835,576 (GRCm39) |
K335* |
probably null |
Het |
Gcsam |
T |
G |
16: 45,440,356 (GRCm39) |
V133G |
probably damaging |
Het |
Gml |
G |
T |
15: 74,685,665 (GRCm39) |
L107I |
possibly damaging |
Het |
Golga2 |
T |
A |
2: 32,192,909 (GRCm39) |
L409Q |
probably damaging |
Het |
Gtf2a1l |
A |
T |
17: 89,002,008 (GRCm39) |
Q241L |
probably benign |
Het |
Gtf3c3 |
A |
G |
1: 54,438,419 (GRCm39) |
Y799H |
probably damaging |
Het |
Guca1b |
T |
G |
17: 47,702,126 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
C |
A |
9: 65,034,179 (GRCm39) |
H617Q |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Itga2b |
A |
C |
11: 102,351,603 (GRCm39) |
I574S |
probably benign |
Het |
Kcnk7 |
A |
T |
19: 5,756,859 (GRCm39) |
I283F |
probably damaging |
Het |
Kirrel3 |
T |
A |
9: 34,934,843 (GRCm39) |
L450M |
probably damaging |
Het |
Lmntd1 |
A |
T |
6: 145,365,600 (GRCm39) |
S176R |
probably damaging |
Het |
Lrrc39 |
C |
T |
3: 116,373,216 (GRCm39) |
T292I |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,622,019 (GRCm39) |
H801L |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,295,196 (GRCm39) |
Q3318L |
probably damaging |
Het |
Man1b1 |
T |
A |
2: 25,235,032 (GRCm39) |
N282K |
probably benign |
Het |
Map2k6 |
A |
T |
11: 110,388,727 (GRCm39) |
E223V |
probably damaging |
Het |
Marf1 |
C |
A |
16: 13,960,450 (GRCm39) |
R531S |
possibly damaging |
Het |
Mfge8 |
G |
A |
7: 78,792,191 (GRCm39) |
R245C |
probably damaging |
Het |
Mogat1 |
T |
G |
1: 78,514,681 (GRCm39) |
N318K |
probably benign |
Het |
Myh4 |
T |
A |
11: 67,141,135 (GRCm39) |
S732R |
possibly damaging |
Het |
Myt1l |
T |
A |
12: 29,861,537 (GRCm39) |
D106E |
unknown |
Het |
Ndc1 |
T |
C |
4: 107,241,992 (GRCm39) |
F302L |
probably damaging |
Het |
Ndrg4 |
C |
T |
8: 96,438,956 (GRCm39) |
A290V |
probably benign |
Het |
Nfia |
A |
T |
4: 97,951,365 (GRCm39) |
K397N |
probably damaging |
Het |
Nlrp4e |
A |
T |
7: 23,020,458 (GRCm39) |
Q315L |
possibly damaging |
Het |
Oga |
C |
A |
19: 45,740,613 (GRCm39) |
K907N |
probably benign |
Het |
Or10p22 |
A |
C |
10: 128,826,721 (GRCm39) |
*313C |
probably null |
Het |
Or1ad8 |
T |
A |
11: 50,898,679 (GRCm39) |
N293K |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,710,780 (GRCm39) |
I1481V |
possibly damaging |
Het |
Phldb2 |
C |
T |
16: 45,595,413 (GRCm39) |
G883D |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,734,997 (GRCm39) |
I113F |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,171,610 (GRCm39) |
I457V |
probably benign |
Het |
Ppil1 |
T |
C |
17: 29,480,809 (GRCm39) |
N38S |
possibly damaging |
Het |
Prf1 |
A |
G |
10: 61,136,231 (GRCm39) |
N169S |
probably benign |
Het |
Prmt8 |
A |
C |
6: 127,703,486 (GRCm39) |
|
probably null |
Het |
Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
Rab12 |
A |
T |
17: 66,807,315 (GRCm39) |
M138K |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,160,093 (GRCm39) |
T2159A |
probably damaging |
Het |
Retsat |
A |
T |
6: 72,583,063 (GRCm39) |
Y36F |
probably damaging |
Het |
Rgs14 |
A |
T |
13: 55,526,696 (GRCm39) |
Q116L |
probably damaging |
Het |
Rlbp1 |
A |
T |
7: 79,025,684 (GRCm39) |
N252K |
probably damaging |
Het |
Rtraf |
A |
G |
14: 19,862,242 (GRCm39) |
L215P |
probably damaging |
Het |
Sec1 |
A |
T |
7: 45,328,789 (GRCm39) |
M86K |
probably benign |
Het |
Sec24b |
A |
T |
3: 129,834,665 (GRCm39) |
S42T |
possibly damaging |
Het |
Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
Slc35f5 |
T |
G |
1: 125,512,269 (GRCm39) |
D356E |
possibly damaging |
Het |
Smpd4 |
T |
C |
16: 17,460,365 (GRCm39) |
S694P |
probably damaging |
Het |
Spag6 |
G |
T |
2: 18,750,420 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,181,030 (GRCm39) |
I43T |
possibly damaging |
Het |
Ssh1 |
T |
C |
5: 114,090,081 (GRCm39) |
D314G |
possibly damaging |
Het |
Tnfrsf17 |
G |
A |
16: 11,137,595 (GRCm39) |
D111N |
probably benign |
Het |
Ttn |
A |
G |
2: 76,553,635 (GRCm39) |
I30994T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,614,320 (GRCm39) |
F8737L |
probably damaging |
Het |
Ush1c |
G |
T |
7: 45,845,152 (GRCm39) |
F890L |
probably benign |
Het |
Usp36 |
C |
T |
11: 118,162,957 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
T |
C |
17: 23,566,795 (GRCm39) |
Y436H |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,635 (GRCm39) |
M259L |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,659,698 (GRCm39) |
T197A |
probably benign |
Het |
Zbtb37 |
T |
A |
1: 160,847,814 (GRCm39) |
M398L |
probably benign |
Het |
Zfp804b |
C |
T |
5: 6,819,673 (GRCm39) |
C1130Y |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,441,712 (GRCm39) |
C317R |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,480,334 (GRCm39) |
H719R |
probably 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 |
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'- GTCCAAAGCCCTGGAACTTAGCTC -3'
(R):5'- CAGCCAAAGTCTTTTGCTGCCATC -3'
Sequencing Primer
(F):5'- TCATGGGAAGCACCTAGCC -3'
(R):5'- CCAAGGAAAGTTTGTCTGACC -3'
|
Posted On |
2014-05-14 |