Incidental Mutation 'R7709:Pik3c2b'
ID |
594430 |
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 |
045768-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R7709 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 133007579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077730
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,201,334 (GRCm39) |
I443T |
probably damaging |
Het |
2310002L09Rik |
A |
G |
4: 73,861,091 (GRCm39) |
C170R |
possibly damaging |
Het |
4933415A04Rik |
GTGTGTGTGTATGTGTGTGT |
GTGTGTGTGT |
11: 43,478,237 (GRCm39) |
|
probably null |
Het |
A2m |
A |
C |
6: 121,637,063 (GRCm39) |
T809P |
possibly damaging |
Het |
Abca12 |
T |
C |
1: 71,374,887 (GRCm39) |
D340G |
probably benign |
Het |
Abcg8 |
A |
T |
17: 84,999,919 (GRCm39) |
D191V |
probably damaging |
Het |
Acan |
G |
T |
7: 78,739,356 (GRCm39) |
V255F |
probably damaging |
Het |
Ace |
G |
A |
11: 105,879,663 (GRCm39) |
V1248I |
probably benign |
Het |
Adgre1 |
A |
T |
17: 57,709,519 (GRCm39) |
Q87L |
unknown |
Het |
Adgrl1 |
G |
A |
8: 84,665,617 (GRCm39) |
V1435M |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,934,933 (GRCm39) |
D423G |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,219,810 (GRCm39) |
Y1137H |
probably damaging |
Het |
Arl5a |
T |
C |
2: 52,295,068 (GRCm39) |
D114G |
probably benign |
Het |
B3galt9 |
T |
G |
2: 34,728,437 (GRCm39) |
C79G |
probably damaging |
Het |
Baiap2l2 |
G |
T |
15: 79,143,911 (GRCm39) |
N394K |
probably benign |
Het |
Cap1 |
A |
T |
4: 122,756,467 (GRCm39) |
C355S |
probably damaging |
Het |
Ccdc25 |
A |
T |
14: 66,077,933 (GRCm39) |
D22V |
probably damaging |
Het |
Ceacam2 |
T |
C |
7: 25,238,076 (GRCm39) |
D116G |
probably damaging |
Het |
Clec4b2 |
A |
G |
6: 123,149,974 (GRCm39) |
|
probably benign |
Het |
CN725425 |
C |
A |
15: 91,124,930 (GRCm39) |
R157S |
probably benign |
Het |
Coq8b |
T |
C |
7: 26,949,962 (GRCm39) |
I347T |
probably damaging |
Het |
Ctbp2 |
C |
A |
7: 132,591,789 (GRCm39) |
V338L |
probably benign |
Het |
Cyp2d22 |
A |
G |
15: 82,258,612 (GRCm39) |
V83A |
possibly damaging |
Het |
Daam1 |
G |
A |
12: 72,024,423 (GRCm39) |
R797H |
probably benign |
Het |
Dab1 |
C |
A |
4: 104,577,756 (GRCm39) |
S275* |
probably null |
Het |
Dgkz |
T |
C |
2: 91,767,404 (GRCm39) |
E863G |
probably benign |
Het |
Dhx34 |
G |
A |
7: 15,946,789 (GRCm39) |
A515V |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,530,049 (GRCm39) |
|
probably null |
Het |
Dnmt3b |
C |
A |
2: 153,514,140 (GRCm39) |
N384K |
probably benign |
Het |
Dock5 |
A |
G |
14: 68,033,454 (GRCm39) |
Y972H |
probably benign |
Het |
Etv5 |
A |
T |
16: 22,231,597 (GRCm39) |
Y138* |
probably null |
Het |
Fdps |
A |
G |
3: 89,008,397 (GRCm39) |
S4P |
probably damaging |
Het |
Gart |
A |
G |
16: 91,419,853 (GRCm39) |
F885L |
possibly damaging |
Het |
Gm32687 |
A |
T |
10: 81,715,328 (GRCm39) |
H240L |
probably damaging |
Het |
Gm4553 |
C |
T |
7: 141,719,384 (GRCm39) |
G15R |
unknown |
Het |
Gm572 |
C |
T |
4: 148,753,408 (GRCm39) |
T351M |
probably damaging |
Het |
Gpr3 |
A |
T |
4: 132,937,748 (GRCm39) |
L308Q |
probably damaging |
Het |
Gpsm2 |
A |
G |
3: 108,609,097 (GRCm39) |
V174A |
probably benign |
Het |
Gucy1a1 |
T |
C |
3: 82,002,096 (GRCm39) |
H661R |
unknown |
Het |
Heatr4 |
A |
T |
12: 84,004,499 (GRCm39) |
M774K |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
Ift81 |
C |
T |
5: 122,747,394 (GRCm39) |
V91M |
probably damaging |
Het |
Igsf10 |
G |
T |
3: 59,238,964 (GRCm39) |
Q406K |
probably damaging |
Het |
Il10ra |
A |
G |
9: 45,171,697 (GRCm39) |
V257A |
probably benign |
Het |
Ina |
A |
T |
19: 47,012,082 (GRCm39) |
K500I |
|
Het |
Lce1i |
A |
T |
3: 92,685,066 (GRCm39) |
C37S |
unknown |
Het |
Lrrc59 |
A |
T |
11: 94,525,811 (GRCm39) |
D133V |
probably damaging |
Het |
Magi3 |
A |
G |
3: 103,941,354 (GRCm39) |
I867T |
probably damaging |
Het |
Mmaa |
T |
A |
8: 79,995,830 (GRCm39) |
R298W |
probably damaging |
Het |
Mon1a |
G |
T |
9: 107,777,327 (GRCm39) |
V77F |
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,237,285 (GRCm39) |
T1030A |
probably benign |
Het |
Mrps27 |
T |
A |
13: 99,541,504 (GRCm39) |
S162T |
probably benign |
Het |
Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
Mtus1 |
A |
G |
8: 41,507,687 (GRCm39) |
I21T |
possibly damaging |
Het |
Myh2 |
T |
C |
11: 67,085,690 (GRCm39) |
V1844A |
probably benign |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Nbr1 |
T |
G |
11: 101,447,067 (GRCm39) |
F18V |
probably damaging |
Het |
Npy2r |
T |
C |
3: 82,447,689 (GRCm39) |
N362S |
probably benign |
Het |
Ocln |
T |
A |
13: 100,676,106 (GRCm39) |
Y129F |
probably damaging |
Het |
Or2t1 |
T |
C |
14: 14,328,384 (GRCm38) |
I91T |
probably damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,225 (GRCm39) |
I24T |
probably benign |
Het |
Or8c20 |
A |
G |
9: 38,260,573 (GRCm39) |
M59V |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,541,709 (GRCm39) |
D262G |
probably damaging |
Het |
Ptk7 |
T |
A |
17: 46,882,569 (GRCm39) |
D886V |
possibly damaging |
Het |
Ptprg |
T |
A |
14: 12,226,452 (GRCm38) |
D1348E |
probably damaging |
Het |
Rabgap1 |
T |
C |
2: 37,427,339 (GRCm39) |
I640T |
possibly damaging |
Het |
Rogdi |
A |
G |
16: 4,827,098 (GRCm39) |
Y303H |
probably damaging |
Het |
Rps6kb1 |
A |
T |
11: 86,404,148 (GRCm39) |
M283K |
probably damaging |
Het |
Sardh |
T |
A |
2: 27,131,529 (GRCm39) |
T188S |
possibly damaging |
Het |
Sebox |
A |
G |
11: 78,394,919 (GRCm39) |
E87G |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,665,193 (GRCm39) |
M1830K |
probably damaging |
Het |
Spata31h1 |
A |
C |
10: 82,126,366 (GRCm39) |
S2215A |
possibly damaging |
Het |
Spink8 |
G |
A |
9: 109,645,848 (GRCm39) |
V7I |
probably benign |
Het |
Src |
G |
A |
2: 157,299,164 (GRCm39) |
V54M |
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,621 (GRCm39) |
I54V |
probably benign |
Het |
Tpo |
A |
T |
12: 30,181,859 (GRCm39) |
V12E |
possibly damaging |
Het |
Txk |
T |
C |
5: 72,864,918 (GRCm39) |
D373G |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
Vil1 |
C |
T |
1: 74,465,754 (GRCm39) |
T515M |
probably benign |
Het |
Wdr47 |
G |
T |
3: 108,525,837 (GRCm39) |
C120F |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,059,799 (GRCm39) |
P335L |
unknown |
Het |
Zfp148 |
T |
A |
16: 33,288,545 (GRCm39) |
I220N |
probably damaging |
Het |
Zfp992 |
A |
T |
4: 146,551,622 (GRCm39) |
K448* |
probably null |
Het |
Zfp994 |
T |
C |
17: 22,419,406 (GRCm39) |
I514M |
probably benign |
Het |
Zp2 |
A |
T |
7: 119,734,998 (GRCm39) |
I429N |
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 |
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 |
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'- TGGTAGAAGCCTTGACAGCG -3'
(R):5'- AGGTGCTTATCTATCTCCTAGGG -3'
Sequencing Primer
(F):5'- TTGACAGCGGCCATCTTG -3'
(R):5'- CTCTCTCTGAGATGGATACAGAC -3'
|
Posted On |
2019-11-12 |