Incidental Mutation 'R6954:Pik3c2b'
ID |
541349 |
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 |
045066-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R6954 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 132994041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 2
(S2A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
[ENSMUST00000153707]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077730
AA Change: S2A
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: S2A
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 |
possibly damaging
Transcript: ENSMUST00000153707
AA Change: S2A
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000115469 Gene: ENSMUSG00000026447 AA Change: S2A
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
98% (57/58) |
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 |
4930451I11Rik |
A |
T |
7: 126,429,809 (GRCm39) |
|
probably null |
Het |
Alox5 |
A |
C |
6: 116,397,241 (GRCm39) |
Y314* |
probably null |
Het |
Ap4e1 |
T |
C |
2: 126,906,871 (GRCm39) |
S1044P |
probably benign |
Het |
Ash2l |
A |
G |
8: 26,312,796 (GRCm39) |
V391A |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,145 (GRCm39) |
T326A |
probably benign |
Het |
Ccm2 |
T |
A |
11: 6,544,239 (GRCm39) |
I345N |
probably damaging |
Het |
Cntnap3 |
G |
A |
13: 64,896,373 (GRCm39) |
H1034Y |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,483,696 (GRCm39) |
L849S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,413,296 (GRCm39) |
S239P |
probably damaging |
Het |
Dennd1b |
T |
A |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,957,258 (GRCm39) |
I2773T |
probably damaging |
Het |
Eif2b2 |
T |
A |
12: 85,272,817 (GRCm39) |
F267L |
probably damaging |
Het |
Fcrl2 |
A |
G |
3: 87,170,983 (GRCm39) |
|
probably benign |
Het |
Furin |
G |
T |
7: 80,046,712 (GRCm39) |
D181E |
possibly damaging |
Het |
Gm29106 |
T |
A |
1: 118,128,317 (GRCm39) |
C670S |
probably damaging |
Het |
Gm6309 |
A |
T |
5: 146,105,300 (GRCm39) |
D204E |
possibly damaging |
Het |
Hsf2 |
T |
A |
10: 57,380,739 (GRCm39) |
I191N |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,788,124 (GRCm39) |
D566G |
probably benign |
Het |
Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm39) |
C44Y |
probably damaging |
Het |
Letm1 |
G |
A |
5: 33,939,851 (GRCm39) |
R16C |
probably benign |
Het |
Lypd8l |
T |
A |
11: 58,499,314 (GRCm39) |
Y168F |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,956,384 (GRCm39) |
V819A |
probably damaging |
Het |
Mfsd4b4 |
A |
T |
10: 39,767,948 (GRCm39) |
S428T |
probably benign |
Het |
Myo1d |
T |
C |
11: 80,565,783 (GRCm39) |
I347M |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,743,463 (GRCm39) |
I175V |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,359,922 (GRCm39) |
V438E |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,185,044 (GRCm39) |
V768E |
possibly damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,567 (GRCm39) |
Y258* |
probably null |
Het |
Or9g4b |
T |
A |
2: 85,616,726 (GRCm39) |
Y290* |
probably null |
Het |
Pcdh15 |
C |
T |
10: 74,481,821 (GRCm39) |
H1651Y |
possibly damaging |
Het |
Pdgfra |
A |
T |
5: 75,334,055 (GRCm39) |
Q376L |
possibly damaging |
Het |
Pign |
T |
C |
1: 105,481,622 (GRCm39) |
I791M |
probably benign |
Het |
Pip5k1a |
A |
T |
3: 94,975,558 (GRCm39) |
I304K |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,702,054 (GRCm39) |
L1294* |
probably null |
Het |
Pprc1 |
T |
C |
19: 46,052,872 (GRCm39) |
S797P |
probably damaging |
Het |
Prob1 |
A |
G |
18: 35,787,321 (GRCm39) |
V311A |
probably benign |
Het |
Prune2 |
C |
A |
19: 16,977,385 (GRCm39) |
T40K |
probably damaging |
Het |
Rif1 |
T |
G |
2: 52,002,703 (GRCm39) |
D2052E |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,759,519 (GRCm39) |
V195A |
probably damaging |
Het |
Scfd1 |
T |
C |
12: 51,474,729 (GRCm39) |
|
probably null |
Het |
Sidt2 |
A |
T |
9: 45,864,148 (GRCm39) |
N123K |
probably benign |
Het |
Slc22a6 |
G |
A |
19: 8,599,460 (GRCm39) |
A320T |
probably benign |
Het |
Slc25a10 |
A |
G |
11: 120,388,973 (GRCm39) |
H279R |
probably benign |
Het |
Slc35b4 |
A |
G |
6: 34,135,556 (GRCm39) |
V252A |
probably benign |
Het |
Slc46a3 |
T |
C |
5: 147,823,150 (GRCm39) |
T231A |
probably benign |
Het |
Stxbp1 |
T |
A |
2: 32,691,905 (GRCm39) |
H429L |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,517,782 (GRCm39) |
T87I |
probably benign |
Het |
Tcstv6 |
A |
G |
13: 120,307,666 (GRCm39) |
D20G |
possibly damaging |
Het |
Tdpoz2 |
A |
T |
3: 93,559,582 (GRCm39) |
L130H |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,411,921 (GRCm39) |
|
probably null |
Het |
Tmppe |
G |
A |
9: 114,234,591 (GRCm39) |
V297I |
probably benign |
Het |
Ung |
G |
T |
5: 114,269,398 (GRCm39) |
A37S |
probably benign |
Het |
Vdac1 |
T |
C |
11: 52,277,200 (GRCm39) |
Y237H |
probably damaging |
Het |
Vgll4 |
T |
C |
6: 114,898,328 (GRCm39) |
Y11C |
probably damaging |
Het |
Vmn1r24 |
A |
G |
6: 57,933,437 (GRCm39) |
I27T |
probably benign |
Het |
Zfp280b |
T |
A |
10: 75,875,522 (GRCm39) |
M467K |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,668,535 (GRCm39) |
I329V |
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 |
|
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'- TGAGGAAATGGATGCTGGCC -3'
(R):5'- TGTAGAAGTCCAAGGCTGGCTC -3'
Sequencing Primer
(F):5'- ATGCTGGCCTGGATTATGTCAC -3'
(R):5'- TGGCTCATCCCAGCTGATAAGAG -3'
|
Posted On |
2018-11-28 |