Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01086:Pik3c2b'

50221

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) question?

Stock #

IGL01086

Quality Score

Status

Chromosome

Chromosomal Location

132973410-133036429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133019356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1035 (C1035R)

Ref Sequence

ENSEMBL: ENSMUSP00000076911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077730]

AlphaFold

E9QAN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077730
AA Change: C1035R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: C1035R

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,729 (GRCm39)	R104S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Aim2	A	G	1: 173,282,999 (GRCm39)	Y27C	probably damaging	Het
Apol7b	T	C	15: 77,308,114 (GRCm39)	E127G	probably damaging	Het
Atp10a	T	C	7: 58,474,066 (GRCm39)	F1118L	probably damaging	Het
Cacna1e	T	C	1: 154,347,347 (GRCm39)	D940G	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clip4	G	A	17: 72,131,789 (GRCm39)	V376I	probably benign	Het
Cmklr2	T	C	1: 63,222,650 (GRCm39)	E195G	probably benign	Het
Coro6	C	A	11: 77,357,374 (GRCm39)	C194*	probably null	Het
Crebbp	T	C	16: 3,997,416 (GRCm39)	M223V	probably benign	Het
Dkk4	T	A	8: 23,116,857 (GRCm39)	C157S	probably damaging	Het
Dnah14	T	C	1: 181,579,611 (GRCm39)	L3048S	probably benign	Het
Dscaml1	T	C	9: 45,613,960 (GRCm39)		probably benign	Het
Gria2	T	C	3: 80,599,688 (GRCm39)	Y732C	probably damaging	Het
Igkv4-59	T	C	6: 69,415,707 (GRCm39)	I7V	probably benign	Het
Lamc3	T	C	2: 31,788,488 (GRCm39)	F216S	probably damaging	Het
Lcn6	T	C	2: 25,570,792 (GRCm39)	F61L	probably benign	Het
Nup205	T	A	6: 35,185,871 (GRCm39)		probably benign	Het
Or5w18	T	A	2: 87,633,544 (GRCm39)	Y266*	probably null	Het
Otof	C	T	5: 30,533,617 (GRCm39)		probably null	Het
Pla1a	T	C	16: 38,227,984 (GRCm39)	N298D	probably benign	Het
Poteg	T	A	8: 27,963,648 (GRCm39)		probably benign	Het
Pwp1	T	C	10: 85,715,757 (GRCm39)		probably null	Het
Scel	A	G	14: 103,849,827 (GRCm39)	I631V	probably benign	Het
Scn3a	T	A	2: 65,300,503 (GRCm39)	M1288L	probably benign	Het
Serpina11	T	A	12: 103,952,329 (GRCm39)	D147V	probably damaging	Het
Shroom3	T	A	5: 93,096,311 (GRCm39)	C1266S	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Srms	A	G	2: 180,854,216 (GRCm39)	V117A	probably damaging	Het
Tmem161b	T	C	13: 84,370,541 (GRCm39)		probably benign	Het
Tmem94	A	T	11: 115,681,110 (GRCm39)	T158S	probably benign	Het
Tomm40l	T	C	1: 171,047,878 (GRCm39)		probably null	Het
Traf6	A	G	2: 101,515,128 (GRCm39)	I95V	probably benign	Het
Ttc13	A	G	8: 125,402,085 (GRCm39)	I686T	probably damaging	Het
Zmat2	C	T	18: 36,929,163 (GRCm39)	H104Y	probably damaging	Het

Other mutations in Pik3c2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21