Incidental Mutation 'R2067:Pik3c2b'
ID |
226723 |
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 |
040072-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R2067 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133027349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1283
(S1283P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: S1283P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: S1283P
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 |
0.1663 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (76/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
Abca2 |
A |
T |
2: 25,327,517 (GRCm39) |
I669F |
possibly damaging |
Het |
Acin1 |
T |
A |
14: 54,902,711 (GRCm39) |
Q360H |
probably damaging |
Het |
Aldh3b1 |
T |
A |
19: 3,971,755 (GRCm39) |
D72V |
probably benign |
Het |
Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
Alpl |
T |
C |
4: 137,476,856 (GRCm39) |
|
probably benign |
Het |
Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,974,429 (GRCm39) |
T2295M |
probably benign |
Het |
Ccdc9 |
A |
T |
7: 16,012,475 (GRCm39) |
|
probably null |
Het |
Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
Csmd1 |
A |
G |
8: 15,950,782 (GRCm39) |
S3476P |
probably benign |
Het |
Ddias |
A |
T |
7: 92,508,907 (GRCm39) |
M336K |
possibly damaging |
Het |
Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
Epha1 |
G |
T |
6: 42,342,987 (GRCm39) |
H187Q |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,207,525 (GRCm39) |
S330P |
probably damaging |
Het |
Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
Fbxo41 |
C |
T |
6: 85,455,453 (GRCm39) |
W577* |
probably null |
Het |
Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
Gc |
T |
A |
5: 89,594,376 (GRCm39) |
K37N |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,034,736 (GRCm39) |
I178T |
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
Gm3944 |
C |
A |
12: 18,903,895 (GRCm39) |
S8* |
probably null |
Het |
Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
Gpr156 |
A |
G |
16: 37,799,113 (GRCm39) |
D109G |
probably benign |
Het |
Hoxd1 |
A |
T |
2: 74,593,710 (GRCm39) |
T89S |
probably benign |
Het |
Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
Krt4 |
C |
A |
15: 101,833,099 (GRCm39) |
A3S |
possibly damaging |
Het |
Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,960,622 (GRCm39) |
|
probably benign |
Het |
Myh1 |
G |
A |
11: 67,105,446 (GRCm39) |
D1079N |
possibly damaging |
Het |
Myo1a |
A |
G |
10: 127,541,347 (GRCm39) |
N43D |
probably benign |
Het |
Napa |
A |
T |
7: 15,849,203 (GRCm39) |
|
probably benign |
Het |
Ndufa12 |
A |
G |
10: 94,056,569 (GRCm39) |
D99G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,174,275 (GRCm39) |
I1528T |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,460,196 (GRCm39) |
S41P |
probably damaging |
Het |
Nolc1 |
C |
T |
19: 46,072,046 (GRCm39) |
T612M |
probably damaging |
Het |
Nsun5 |
T |
G |
5: 135,403,926 (GRCm39) |
Y301D |
probably damaging |
Het |
Oas1g |
T |
C |
5: 121,023,946 (GRCm39) |
E121G |
probably damaging |
Het |
Or1e1f |
A |
G |
11: 73,855,740 (GRCm39) |
Y102C |
probably damaging |
Het |
Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
Or6ae1 |
T |
A |
7: 139,742,822 (GRCm39) |
I14F |
possibly damaging |
Het |
Or8b46 |
T |
A |
9: 38,450,576 (GRCm39) |
N128K |
probably benign |
Het |
Or8k38 |
G |
T |
2: 86,488,781 (GRCm39) |
T7K |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,844,896 (GRCm39) |
N957D |
probably benign |
Het |
Parn |
G |
A |
16: 13,420,933 (GRCm39) |
S473L |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
Pole2 |
G |
A |
12: 69,274,926 (GRCm39) |
R5W |
probably benign |
Het |
Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,050,388 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
C |
A |
15: 97,664,842 (GRCm39) |
G7V |
probably damaging |
Het |
Ripor1 |
T |
A |
8: 106,344,340 (GRCm39) |
S491R |
probably benign |
Het |
Rnf141 |
A |
G |
7: 110,420,572 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,777,302 (GRCm39) |
R285Q |
probably damaging |
Het |
Sall4 |
T |
C |
2: 168,598,465 (GRCm39) |
N125S |
probably benign |
Het |
Schip1 |
A |
G |
3: 68,525,119 (GRCm39) |
K360R |
probably damaging |
Het |
Senp6 |
T |
A |
9: 79,997,151 (GRCm39) |
V55E |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
Slc25a16 |
T |
A |
10: 62,768,530 (GRCm39) |
H130Q |
probably benign |
Het |
Styx |
T |
C |
14: 45,611,020 (GRCm39) |
V217A |
probably benign |
Het |
Syne2 |
G |
A |
12: 75,935,116 (GRCm39) |
|
probably null |
Het |
Tagap1 |
A |
G |
17: 7,224,259 (GRCm39) |
S146P |
probably benign |
Het |
Tatdn2 |
A |
G |
6: 113,681,103 (GRCm39) |
K379E |
probably benign |
Het |
Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
Tle2 |
T |
C |
10: 81,416,385 (GRCm39) |
L135P |
probably damaging |
Het |
Tmc1 |
A |
G |
19: 20,801,673 (GRCm39) |
F451S |
possibly damaging |
Het |
Trpm7 |
G |
A |
2: 126,639,647 (GRCm39) |
P1650S |
probably damaging |
Het |
Ttll4 |
G |
A |
1: 74,719,541 (GRCm39) |
R16H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
Tubgcp6 |
T |
C |
15: 88,988,692 (GRCm39) |
E803G |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
Ugt2b35 |
A |
G |
5: 87,149,412 (GRCm39) |
D221G |
probably damaging |
Het |
Unc45b |
G |
A |
11: 82,802,515 (GRCm39) |
A4T |
probably benign |
Het |
Vmn1r70 |
A |
T |
7: 10,368,264 (GRCm39) |
I251F |
possibly damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,831,553 (GRCm39) |
H412L |
possibly damaging |
Het |
Zfp59 |
A |
G |
7: 27,552,935 (GRCm39) |
N129S |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
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 |
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'- TTCCCTAAGGGCATCCAGAC -3'
(R):5'- GGCCTTAACGTTTGGGCTAAG -3'
Sequencing Primer
(F):5'- CAGACAACCCAGGGACAGTG -3'
(R):5'- GCTAAGCCTGTCCCACTG -3'
|
Posted On |
2014-09-17 |