Incidental Mutation 'R9776:Pik3c2b'
| ID |
733668 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R9776 (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 133018588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1012
(S1012T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077730
AA Change: S1012T
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: S1012T
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
| 2010109A12Rik |
T |
A |
5: 93,361,305 (GRCm39) |
*120K |
probably null |
Het |
| 2700049A03Rik |
A |
G |
12: 71,235,448 (GRCm39) |
T1133A |
possibly damaging |
Het |
| A830005F24Rik |
G |
A |
13: 48,667,758 (GRCm39) |
R20Q |
unknown |
Het |
| Acta2 |
T |
C |
19: 34,223,481 (GRCm39) |
T205A |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,100,725 (GRCm39) |
D759G |
probably damaging |
Het |
| Ankk1 |
T |
A |
9: 49,330,714 (GRCm39) |
M276L |
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,713,447 (GRCm39) |
E1283K |
probably damaging |
Het |
| Arhgef26 |
G |
T |
3: 62,246,803 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,133,415 (GRCm39) |
S351A |
probably benign |
Het |
| Arih2 |
C |
T |
9: 108,484,504 (GRCm39) |
G436S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,969,396 (GRCm39) |
T1013A |
probably damaging |
Het |
| Camsap1 |
A |
T |
2: 25,828,166 (GRCm39) |
V1186E |
probably benign |
Het |
| Capn10 |
G |
T |
1: 92,871,586 (GRCm39) |
A395S |
possibly damaging |
Het |
| Ccdc184 |
A |
T |
15: 98,066,737 (GRCm39) |
T181S |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,509,108 (GRCm39) |
I1345T |
possibly damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,486,779 (GRCm39) |
H252Q |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,582,172 (GRCm39) |
M363L |
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,338,625 (GRCm39) |
P24S |
probably benign |
Het |
| D130040H23Rik |
A |
G |
8: 69,755,566 (GRCm39) |
H341R |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,298,226 (GRCm39) |
E590G |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,729 (GRCm39) |
Y129F |
probably benign |
Het |
| Egf |
A |
G |
3: 129,530,514 (GRCm39) |
L216P |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,792,523 (GRCm39) |
H319Q |
probably damaging |
Het |
| Gipr |
A |
G |
7: 18,891,487 (GRCm39) |
S397P |
probably damaging |
Het |
| Gxylt2 |
G |
T |
6: 100,682,072 (GRCm39) |
E90* |
probably null |
Het |
| Hnf1b |
T |
C |
11: 83,784,283 (GRCm39) |
V473A |
probably benign |
Het |
| Iffo1 |
G |
A |
6: 125,130,436 (GRCm39) |
E475K |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,075 (GRCm39) |
R640S |
|
Het |
| Ipmk |
A |
G |
10: 71,217,439 (GRCm39) |
S328G |
probably damaging |
Het |
| Kcnq1 |
A |
T |
7: 142,737,368 (GRCm39) |
I229F |
probably damaging |
Het |
| Kif9 |
C |
A |
9: 110,350,398 (GRCm39) |
T763N |
probably benign |
Het |
| Klhl36 |
C |
T |
8: 120,601,129 (GRCm39) |
Q383* |
probably null |
Het |
| Lrp4 |
G |
T |
2: 91,316,179 (GRCm39) |
V766F |
probably damaging |
Het |
| Mettl26 |
T |
A |
17: 26,094,511 (GRCm39) |
M3K |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,570,675 (GRCm39) |
I615F |
unknown |
Het |
| Myo7b |
T |
A |
18: 32,133,068 (GRCm39) |
Q427L |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Ncapg |
G |
A |
5: 45,829,834 (GRCm39) |
V179I |
probably damaging |
Het |
| Nme4 |
C |
T |
17: 26,314,410 (GRCm39) |
G6E |
possibly damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,319,311 (GRCm39) |
Y185C |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,327,012 (GRCm39) |
I95V |
probably benign |
Het |
| Ntaq1 |
A |
G |
15: 58,004,913 (GRCm39) |
T9A |
probably benign |
Het |
| Or2y3 |
C |
T |
17: 38,393,470 (GRCm39) |
R133H |
probably benign |
Het |
| Or5g9 |
A |
T |
2: 85,552,145 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5t16 |
A |
T |
2: 86,819,055 (GRCm39) |
I155N |
probably damaging |
Het |
| Pappa2 |
G |
T |
1: 158,611,481 (GRCm39) |
P1494Q |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,909 (GRCm39) |
F144S |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,975,896 (GRCm39) |
H547R |
probably damaging |
Het |
| Plppr2 |
G |
A |
9: 21,859,107 (GRCm39) |
G408D |
probably damaging |
Het |
| Pom121 |
T |
A |
5: 135,420,554 (GRCm39) |
N289I |
unknown |
Het |
| Ppa1 |
T |
A |
10: 61,487,362 (GRCm39) |
S30T |
probably damaging |
Het |
| Rgs5 |
A |
T |
1: 169,518,089 (GRCm39) |
K108* |
probably null |
Het |
| Rpap1 |
A |
G |
2: 119,607,278 (GRCm39) |
V287A |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,774,664 (GRCm39) |
Y2326H |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,707,599 (GRCm39) |
S2813P |
probably damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,702 (GRCm39) |
|
probably null |
Het |
| Senp5 |
T |
C |
16: 31,782,279 (GRCm39) |
Y739C |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,793,017 (GRCm39) |
L187Q |
possibly damaging |
Het |
| Slc7a2 |
C |
T |
8: 41,358,641 (GRCm39) |
T328M |
probably damaging |
Het |
| Slc7a8 |
T |
C |
14: 55,018,759 (GRCm39) |
N9S |
probably benign |
Het |
| Snx18 |
A |
G |
13: 113,754,039 (GRCm39) |
V298A |
probably benign |
Het |
| Spo11 |
T |
A |
2: 172,833,904 (GRCm39) |
I342N |
possibly damaging |
Het |
| Ssc5d |
A |
G |
7: 4,932,367 (GRCm39) |
K344E |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,439,269 (GRCm39) |
D1639V |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,001 (GRCm39) |
D285G |
probably benign |
Het |
| Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,544,831 (GRCm39) |
L274P |
probably damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,396,208 (GRCm39) |
S545P |
possibly damaging |
Het |
| Tbc1d17 |
T |
G |
7: 44,490,696 (GRCm39) |
D632A |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,650,007 (GRCm39) |
S10P |
probably benign |
Het |
| Tlk1 |
A |
T |
2: 70,555,908 (GRCm39) |
I417N |
probably damaging |
Het |
| Tmem184a |
C |
T |
5: 139,791,984 (GRCm39) |
R348H |
possibly damaging |
Het |
| Togaram2 |
T |
A |
17: 72,023,508 (GRCm39) |
V808D |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,324,939 (GRCm39) |
Q2397R |
probably benign |
Het |
| Trav7-4 |
A |
G |
14: 53,698,994 (GRCm39) |
D47G |
possibly damaging |
Het |
| Usp17le |
T |
A |
7: 104,419,814 (GRCm39) |
M35L |
probably benign |
Het |
| Vegfc |
C |
T |
8: 54,633,829 (GRCm39) |
S262L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,605,212 (GRCm39) |
I479L |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,736,958 (GRCm39) |
F126L |
probably benign |
Het |
| Zfp945 |
C |
A |
17: 23,070,582 (GRCm39) |
C460F |
possibly damaging |
Het |
| Zmym4 |
G |
T |
4: 126,804,942 (GRCm39) |
S439R |
possibly damaging |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,344,093 (GRCm39) |
E17G |
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 |
|
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 |
|
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'- GGTAGGATATGACCCTTTCTTCC -3'
(R):5'- CATTCATGAGCTGTGGCCAG -3'
Sequencing Primer
(F):5'- TAGTGAGTAGCCTGACCCC -3'
(R):5'- CAGCTTGGGGACTATCTGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation