Incidental Mutation 'R7916:Pik3c2b'
| ID |
648054 |
| 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 |
045964-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R7916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133028642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1377
(I1377N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077730
AA Change: I1377N
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: I1377N
| 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: 99.6%
- 20x: 98.8%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,682,454 (GRCm39) |
L195* |
probably null |
Het |
| Ahnak |
T |
G |
19: 8,983,196 (GRCm39) |
D1493E |
possibly damaging |
Het |
| Alox12e |
C |
A |
11: 70,212,111 (GRCm39) |
R162L |
probably benign |
Het |
| Bax |
T |
G |
7: 45,115,539 (GRCm39) |
Q32P |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,052,493 (GRCm39) |
M204T |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,761,684 (GRCm39) |
Y2256* |
probably null |
Het |
| Chuk |
A |
G |
19: 44,085,420 (GRCm39) |
I242T |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,987,715 (GRCm39) |
S1468P |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,789 (GRCm39) |
H159R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,311,815 (GRCm39) |
K1174E |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,311,974 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
C |
A |
19: 4,967,052 (GRCm39) |
E351* |
probably null |
Het |
| Dyrk1a |
A |
G |
16: 94,474,200 (GRCm39) |
Y319C |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,719,841 (GRCm39) |
S458P |
probably damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,746,708 (GRCm39) |
L425F |
probably damaging |
Het |
| Emp2 |
C |
A |
16: 10,102,437 (GRCm39) |
R125L |
possibly damaging |
Het |
| Farsb |
A |
G |
1: 78,435,200 (GRCm39) |
|
probably null |
Het |
| Frk |
A |
T |
10: 34,360,021 (GRCm39) |
R7S |
possibly damaging |
Het |
| Glb1l2 |
T |
C |
9: 26,678,720 (GRCm39) |
T483A |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,680,586 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm7324 |
T |
G |
14: 43,952,003 (GRCm39) |
D215E |
probably benign |
Het |
| Gng13 |
A |
T |
17: 25,937,932 (GRCm39) |
K44* |
probably null |
Het |
| Gprin1 |
C |
T |
13: 54,887,263 (GRCm39) |
G337D |
possibly damaging |
Het |
| Ighv1-84 |
G |
T |
12: 115,944,609 (GRCm39) |
Q22K |
probably benign |
Het |
| Il20rb |
T |
C |
9: 100,348,304 (GRCm39) |
H210R |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,304,578 (GRCm39) |
S113L |
probably benign |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kmo |
G |
T |
1: 175,487,236 (GRCm39) |
G430W |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Ldhd |
T |
G |
8: 112,356,023 (GRCm39) |
D120A |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,821,657 (GRCm39) |
S1344P |
possibly damaging |
Het |
| Mb |
T |
A |
15: 76,900,257 (GRCm39) |
I112F |
probably damaging |
Het |
| Mbd5 |
G |
A |
2: 49,147,118 (GRCm39) |
V443M |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,654,688 (GRCm39) |
K180R |
possibly damaging |
Het |
| Mst1r |
T |
C |
9: 107,784,777 (GRCm39) |
F145S |
probably damaging |
Het |
| Mthfd2 |
A |
T |
6: 83,286,455 (GRCm39) |
I251K |
possibly damaging |
Het |
| Nfx1 |
T |
A |
4: 40,977,142 (GRCm39) |
M272K |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,442,689 (GRCm39) |
D747G |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,260,249 (GRCm39) |
R123K |
probably benign |
Het |
| Or2y1 |
A |
T |
11: 49,385,543 (GRCm39) |
Y61F |
probably benign |
Het |
| Or5p60 |
C |
A |
7: 107,724,329 (GRCm39) |
S47I |
possibly damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,202 (GRCm39) |
Y278* |
probably null |
Het |
| Pcdha11 |
A |
G |
18: 37,140,441 (GRCm39) |
E690G |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,818,502 (GRCm39) |
I17N |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,858 (GRCm39) |
K477E |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,806,613 (GRCm39) |
K69E |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,641 (GRCm39) |
H280R |
possibly damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,034 (GRCm39) |
R132L |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,790,364 (GRCm39) |
Q1488* |
probably null |
Het |
| Sh3bp1 |
A |
G |
15: 78,791,421 (GRCm39) |
M403V |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,074,979 (GRCm39) |
N1517K |
possibly damaging |
Het |
| Srek1ip1 |
T |
A |
13: 104,973,981 (GRCm39) |
H129Q |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,334,116 (GRCm39) |
C491S |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,410 (GRCm39) |
N204I |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,862,167 (GRCm39) |
V677A |
probably benign |
Het |
| Topaz1 |
T |
G |
9: 122,576,499 (GRCm39) |
L30R |
probably benign |
Het |
| Trim35 |
T |
A |
14: 66,546,309 (GRCm39) |
C359S |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,774,865 (GRCm39) |
V2105G |
unknown |
Het |
| Ube2o |
A |
G |
11: 116,471,884 (GRCm39) |
V119A |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,279,308 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
A |
G |
1: 170,032,757 (GRCm39) |
V347A |
possibly damaging |
Het |
| Utp4 |
C |
T |
8: 107,649,497 (GRCm39) |
P649S |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,483,818 (GRCm39) |
T794I |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,458,848 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
C |
T |
13: 67,768,294 (GRCm39) |
R645H |
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 |
|
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 |
|
|
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'- AGGTTGATTGAGTCCAGCCTG -3'
(R):5'- ATTACCAACCAGTTCAGCGGC -3'
Sequencing Primer
(F):5'- CAGCCTGGGCAGCGTAG -3'
(R):5'- CTTTAATGCAGGTCACATCAGCGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation