Incidental Mutation 'IGL02379:Pik3c2b'
ID |
291299 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3c2b
|
Ensembl Gene |
ENSMUSG00000026447 |
Gene Name |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
Synonyms |
PI3K-C2beta, C330011J12Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
IGL02379
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133022529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1157
(D1157G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077730
AA Change: D1157G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: D1157G
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 |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
A |
5: 121,760,106 (GRCm39) |
I996F |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,774,014 (GRCm39) |
D1133V |
probably damaging |
Het |
Adi1 |
T |
A |
12: 28,729,466 (GRCm39) |
D106E |
probably damaging |
Het |
Agl |
A |
G |
3: 116,572,740 (GRCm39) |
F837S |
probably damaging |
Het |
Alb |
T |
A |
5: 90,613,738 (GRCm39) |
D207E |
probably benign |
Het |
Alms1 |
T |
G |
6: 85,606,615 (GRCm39) |
V2286G |
probably damaging |
Het |
Alpl |
G |
A |
4: 137,469,869 (GRCm39) |
A485V |
probably damaging |
Het |
Antxrl |
C |
A |
14: 33,778,492 (GRCm39) |
|
probably null |
Het |
Apc |
C |
T |
18: 34,431,798 (GRCm39) |
T417I |
probably benign |
Het |
Ash2l |
T |
C |
8: 26,312,799 (GRCm39) |
D390G |
probably damaging |
Het |
Asph |
G |
A |
4: 9,474,980 (GRCm39) |
P582S |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,992,980 (GRCm39) |
L825Q |
probably benign |
Het |
Bhlha15 |
T |
A |
5: 144,128,159 (GRCm39) |
N90K |
probably damaging |
Het |
Cgnl1 |
T |
A |
9: 71,552,835 (GRCm39) |
Y1043F |
possibly damaging |
Het |
Chek1 |
T |
C |
9: 36,635,242 (GRCm39) |
D47G |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,627,619 (GRCm39) |
M451L |
probably benign |
Het |
Csnk1g3 |
T |
C |
18: 54,066,564 (GRCm39) |
S346P |
probably benign |
Het |
Cspg4 |
G |
T |
9: 56,799,893 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
A |
G |
7: 110,650,726 (GRCm39) |
K884E |
probably damaging |
Het |
Cyld |
T |
A |
8: 89,471,556 (GRCm39) |
C813* |
probably null |
Het |
Fn3k |
A |
T |
11: 121,325,950 (GRCm39) |
T46S |
probably benign |
Het |
Foxred1 |
T |
C |
9: 35,121,282 (GRCm39) |
R89G |
probably benign |
Het |
Gpr174 |
T |
C |
X: 106,337,084 (GRCm39) |
F299L |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,706,266 (GRCm39) |
D312G |
probably damaging |
Het |
Il36b |
A |
G |
2: 24,044,650 (GRCm39) |
S17G |
probably benign |
Het |
Kcna5 |
G |
T |
6: 126,511,472 (GRCm39) |
P219T |
probably damaging |
Het |
Kcnh2 |
A |
C |
5: 24,531,636 (GRCm39) |
V425G |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,500,246 (GRCm39) |
N278S |
probably damaging |
Het |
Mars2 |
T |
A |
1: 55,277,212 (GRCm39) |
W272R |
probably damaging |
Het |
Msl3l2 |
C |
A |
10: 55,992,017 (GRCm39) |
S247R |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,216,925 (GRCm39) |
E1144G |
probably damaging |
Het |
Nefm |
T |
C |
14: 68,357,688 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,644 (GRCm39) |
K743E |
probably damaging |
Het |
Nyap2 |
C |
T |
1: 81,065,147 (GRCm39) |
T53I |
probably damaging |
Het |
Odad4 |
A |
T |
11: 100,457,809 (GRCm39) |
N471Y |
possibly damaging |
Het |
Or10ag58 |
T |
C |
2: 87,265,668 (GRCm39) |
V279A |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,234,099 (GRCm39) |
V290A |
possibly damaging |
Het |
Peli2 |
A |
G |
14: 48,405,755 (GRCm39) |
H60R |
probably damaging |
Het |
Pias2 |
T |
A |
18: 77,232,844 (GRCm39) |
|
probably benign |
Het |
Pip4k2a |
C |
T |
2: 18,870,922 (GRCm39) |
|
probably null |
Het |
Raf1 |
A |
T |
6: 115,621,509 (GRCm39) |
D23E |
probably benign |
Het |
Rhox10 |
G |
A |
X: 37,155,733 (GRCm39) |
R87H |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,376,345 (GRCm39) |
T449A |
possibly damaging |
Het |
Serpina3a |
T |
A |
12: 104,084,919 (GRCm39) |
S105T |
probably benign |
Het |
Slc12a9 |
T |
G |
5: 137,319,691 (GRCm39) |
Q608P |
probably damaging |
Het |
Smg6 |
C |
A |
11: 74,944,751 (GRCm39) |
P167T |
probably damaging |
Het |
Spata7 |
C |
T |
12: 98,600,519 (GRCm39) |
T44I |
probably damaging |
Het |
Spink12 |
C |
T |
18: 44,239,575 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stag2 |
C |
T |
X: 41,339,474 (GRCm39) |
T754I |
probably benign |
Het |
Supt6 |
C |
T |
11: 78,116,195 (GRCm39) |
V723M |
possibly damaging |
Het |
Ubr3 |
A |
G |
2: 69,778,832 (GRCm39) |
D614G |
possibly damaging |
Het |
Vps39 |
T |
A |
2: 120,154,089 (GRCm39) |
K624N |
probably benign |
Het |
Vwa5b1 |
A |
T |
4: 138,340,170 (GRCm39) |
L29Q |
probably damaging |
Het |
Wtap |
G |
A |
17: 13,188,336 (GRCm39) |
A188V |
probably benign |
Het |
Zc3hc1 |
A |
G |
6: 30,390,974 (GRCm39) |
F5L |
probably benign |
Het |
Zfp655 |
C |
T |
5: 145,180,765 (GRCm39) |
P208S |
probably benign |
Het |
Zswim3 |
A |
T |
2: 164,662,602 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |