Incidental Mutation 'IGL01313:Pik3c2b'
ID73727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3c2b
Ensembl Gene ENSMUSG00000026447
Gene Namephosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
SynonymsC330011J12Rik, PI3K-C2beta
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.401) question?
Stock #IGL01313
Quality Score
Status
Chromosome1
Chromosomal Location133045667-133108687 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 133071631 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 406 (Q406*)
Ref Sequence ENSEMBL: ENSMUSP00000076911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077730] [ENSMUST00000153707]
Predicted Effect probably null
Transcript: ENSMUST00000077730
AA Change: Q406*
SMART Domains Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: Q406*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 155 160 N/A INTRINSIC
low complexity region 168 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186515
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,645,010 probably null Het
Abca7 T A 10: 80,003,123 probably benign Het
Acvr1c T G 2: 58,315,974 Q41H probably benign Het
Apob A T 12: 8,000,898 N1041Y probably damaging Het
Asb5 A T 8: 54,585,763 probably benign Het
Asxl3 A T 18: 22,517,459 E835V probably benign Het
Ccdc73 A T 2: 104,907,627 M23L probably benign Het
Cep170b G A 12: 112,735,652 R293H probably damaging Het
Chd8 C A 14: 52,210,575 L316F probably damaging Het
Cldn13 T C 5: 134,915,260 S24G possibly damaging Het
Cnot10 A T 9: 114,631,855 N82K probably benign Het
Colec10 G A 15: 54,459,761 V127M probably damaging Het
Cyp2d40 T C 15: 82,761,277 S130G unknown Het
Ddx60 T A 8: 61,982,526 H904Q probably damaging Het
Dnajc2 T C 5: 21,774,976 N177S possibly damaging Het
F5 G T 1: 164,193,612 V1219L probably benign Het
Fam47c G T X: 78,737,848 R12L probably damaging Het
Fat4 T C 3: 39,007,201 I4311T possibly damaging Het
Fbf1 A G 11: 116,151,081 V545A probably benign Het
Fhod3 G A 18: 25,020,720 E420K probably damaging Het
Ikzf2 T C 1: 69,539,430 K162E probably damaging Het
Insl6 C A 19: 29,321,553 S153I possibly damaging Het
Kcnh8 A G 17: 52,834,680 Y317C probably damaging Het
Lrrc6 A T 15: 66,380,513 S435T probably benign Het
Lzts1 C A 8: 69,139,107 V130L probably benign Het
Mill1 T C 7: 18,264,633 I256T possibly damaging Het
Mycbpap A C 11: 94,509,319 probably null Het
Olfr808 A G 10: 129,767,595 Y33C probably damaging Het
Pdia6 T A 12: 17,270,541 probably benign Het
Pkhd1 C A 1: 20,201,024 G3102C probably damaging Het
Polr3b T A 10: 84,725,743 I1122N probably damaging Het
Ryr2 T A 13: 11,638,485 probably null Het
Samhd1 A G 2: 157,116,401 I300T probably damaging Het
Skint5 T A 4: 113,805,164 I609F unknown Het
Slc27a3 G T 3: 90,386,554 T541K probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Sv2c C T 13: 96,088,289 V171M probably damaging Het
Tenm2 A G 11: 36,024,248 V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 I433F probably benign Het
Thoc2 A T X: 41,827,346 V865D probably benign Het
Trdn C A 10: 33,200,220 P282Q probably damaging Het
Twsg1 C A 17: 65,948,704 C25F probably damaging Het
Usp34 T A 11: 23,473,206 I3155N probably damaging Het
Vmn2r106 T A 17: 20,278,389 Q420L probably damaging Het
Vmn2r109 C T 17: 20,550,157 R523K probably damaging Het
Other mutations in Pik3c2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Pik3c2b APN 1 133091618 missense probably damaging 0.98
IGL01288:Pik3c2b APN 1 133094805 missense probably damaging 0.96
IGL01367:Pik3c2b APN 1 133105988 missense probably benign 0.02
IGL02379:Pik3c2b APN 1 133094791 missense probably damaging 1.00
IGL02638:Pik3c2b APN 1 133077318 splice site probably benign
IGL02728:Pik3c2b APN 1 133092327 missense probably benign 0.09
IGL02992:Pik3c2b APN 1 133066980 nonsense probably null
IGL03121:Pik3c2b APN 1 133079745 missense probably benign 0.00
R0453:Pik3c2b UTSW 1 133077396 missense probably damaging 1.00
R0518:Pik3c2b UTSW 1 133105992 missense probably damaging 1.00
R0616:Pik3c2b UTSW 1 133100831 missense probably damaging 1.00
R0659:Pik3c2b UTSW 1 133071200 missense probably damaging 0.99
R1542:Pik3c2b UTSW 1 133090034 missense probably damaging 1.00
R1716:Pik3c2b UTSW 1 133094826 missense probably damaging 1.00
R1728:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1729:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1730:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1739:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1762:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1783:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1784:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1785:Pik3c2b UTSW 1 133066627 missense probably benign 0.00
R1816:Pik3c2b UTSW 1 133101370 missense probably benign 0.00
R1897:Pik3c2b UTSW 1 133066916 missense possibly damaging 0.57
R2006:Pik3c2b UTSW 1 133066544 missense probably damaging 1.00
R2067:Pik3c2b UTSW 1 133099611 missense probably damaging 1.00
R2271:Pik3c2b UTSW 1 133103428 missense probably benign
R2294:Pik3c2b UTSW 1 133066775 missense probably damaging 1.00
R2320:Pik3c2b UTSW 1 133103413 missense probably damaging 1.00
R4735:Pik3c2b UTSW 1 133067049 missense probably benign 0.25
R4926:Pik3c2b UTSW 1 133099626 nonsense probably null
R4948:Pik3c2b UTSW 1 133099715 critical splice donor site probably null
R4997:Pik3c2b UTSW 1 133105081 missense probably damaging 1.00
R5304:Pik3c2b UTSW 1 133070408 missense possibly damaging 0.50
R5461:Pik3c2b UTSW 1 133099702 missense possibly damaging 0.66
R5722:Pik3c2b UTSW 1 133103836 missense probably damaging 1.00
R5971:Pik3c2b UTSW 1 133074627 splice site probably null
R5980:Pik3c2b UTSW 1 133088308 missense probably benign 0.43
R6036:Pik3c2b UTSW 1 133090713 missense possibly damaging 0.95
R6138:Pik3c2b UTSW 1 133074627 splice site probably null
R6223:Pik3c2b UTSW 1 133070357 missense probably damaging 1.00
R6273:Pik3c2b UTSW 1 133066711 missense probably benign 0.02
R6742:Pik3c2b UTSW 1 133075821 missense probably benign
R6954:Pik3c2b UTSW 1 133066303 missense possibly damaging 0.50
R6998:Pik3c2b UTSW 1 133102372 missense probably benign 0.23
R7103:Pik3c2b UTSW 1 133105974 missense probably damaging 1.00
R7133:Pik3c2b UTSW 1 133090234 missense possibly damaging 0.73
R7161:Pik3c2b UTSW 1 133106112 missense probably damaging 0.98
R7183:Pik3c2b UTSW 1 133066465 missense probably benign 0.00
R7193:Pik3c2b UTSW 1 133079774 missense probably benign 0.00
R7252:Pik3c2b UTSW 1 133094734 missense probably benign 0.19
R7263:Pik3c2b UTSW 1 133090202 missense probably damaging 0.98
R7404:Pik3c2b UTSW 1 133090706 missense probably damaging 1.00
R7709:Pik3c2b UTSW 1 133079841 critical splice donor site probably null
R7712:Pik3c2b UTSW 1 133085611 missense probably damaging 1.00
R7823:Pik3c2b UTSW 1 133102305 missense probably damaging 1.00
R7831:Pik3c2b UTSW 1 133071242 missense possibly damaging 0.94
R7913:Pik3c2b UTSW 1 133090061 critical splice donor site probably null
R7914:Pik3c2b UTSW 1 133071242 missense possibly damaging 0.94
R7994:Pik3c2b UTSW 1 133090061 critical splice donor site probably null
U15987:Pik3c2b UTSW 1 133074627 splice site probably null
X0060:Pik3c2b UTSW 1 133084936 missense probably benign 0.18
Z1176:Pik3c2b UTSW 1 133066553 missense probably damaging 1.00
Z1176:Pik3c2b UTSW 1 133099686 nonsense probably null
Posted On2013-10-07