Incidental Mutation 'R0659:Pik3c2b'
| ID |
61772 |
| 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 |
038844-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R0659 (G1)
|
| Quality Score |
90 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132998938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 353
(D353G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
[ENSMUST00000153707]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: D353G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: D353G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153707
|
| SMART Domains |
Protein: ENSMUSP00000115469
Gene: ENSMUSG00000026447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186515
|
| Meta Mutation Damage Score |
0.3799 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
| Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
| Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,831,751 (GRCm39) |
S457P |
possibly damaging |
Het |
| Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
| Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
| Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
| Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
| Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Mto1 |
T |
A |
9: 78,364,790 (GRCm39) |
I343N |
probably damaging |
Het |
| Mto1 |
C |
T |
9: 78,378,072 (GRCm39) |
T638M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
| Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
| Ppef2 |
A |
G |
5: 92,378,368 (GRCm39) |
L609P |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
| Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,741,068 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,121 (GRCm39) |
K582E |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
| Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
| Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
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 |
|
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 |
|
|
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'- GTTTGTGACTGTAGCAGAGATGACCAG -3'
(R):5'- CCCTTCAGAAAAGTCTTCATTCAGGCG -3'
Sequencing Primer
(F):5'- GAGATGACCAGAAAGACTACAGCC -3'
(R):5'- TCTTCATTCAGGCGACAGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation