Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02638:Pik3c2b'

301640

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

C330011J12Rik, PI3K-C2beta

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

133045667-133108687 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 133077318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076911 (fasta)

Gene Model

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

AlphaFold

E9QAN8

Predicted Effect

probably benign
Transcript: ENSMUST00000077730

SMART Domains

Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447

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

noncoding transcript
Transcript: ENSMUST00000124934

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,430,479	K149*	probably null	Het
A830010M20Rik	T	C	5: 107,508,556	V895A	possibly damaging	Het
Alkbh3	T	A	2: 94,008,113	T38S	probably benign	Het
BC055324	G	A	1: 163,959,299	Q734*	probably null	Het
Cdkn2c	A	G	4: 109,665,012		probably benign	Het
Clca4b	A	C	3: 144,926,178	C189G	probably damaging	Het
Clec4f	T	A	6: 83,652,700	N292I	possibly damaging	Het
Dkk3	A	C	7: 112,149,027	S123R	probably benign	Het
Dock1	C	T	7: 135,146,480	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676	Q403*	probably null	Het
F5	G	A	1: 164,184,608		probably null	Het
Fam98c	T	A	7: 29,152,762	D326V	probably damaging	Het
Frem2	A	C	3: 53,551,346	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,231,579	G18D	probably damaging	Het
Gm8394	T	C	10: 85,313,834		noncoding transcript	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Hif3a	A	C	7: 17,044,368		probably benign	Het
Ibtk	C	T	9: 85,719,893	G755D	probably damaging	Het
Laptm4b	A	G	15: 34,277,484	N187S	probably benign	Het
Lrba	A	G	3: 86,325,073	T776A	probably damaging	Het
Mfhas1	T	A	8: 35,590,950	W860R	possibly damaging	Het
Mon2	A	C	10: 123,023,939	W811G	probably damaging	Het
Nupl2	A	G	5: 24,175,507	T167A	probably benign	Het
Olfr1062	T	C	2: 86,423,677		probably null	Het
Olfr1128	T	C	2: 87,544,749	Y265C	probably damaging	Het
Olfr1295	T	C	2: 111,564,904	D180G	probably damaging	Het
Olfr30	C	A	11: 58,455,047	A301S	probably damaging	Het
Olfr418	A	G	1: 173,270,331	D52G	probably benign	Het
Pgap2	T	C	7: 102,237,422	L217P	probably damaging	Het
Ppfia3	T	A	7: 45,356,668	D149V	probably damaging	Het
Prkcb	C	T	7: 122,600,840		probably benign	Het
Prl	A	G	13: 27,061,579	D97G	probably benign	Het
Rnf112	T	C	11: 61,449,405		probably benign	Het
Slc17a8	C	A	10: 89,576,603	G323*	probably null	Het
Snx19	T	C	9: 30,432,364	F607L	possibly damaging	Het
Suco	A	G	1: 161,827,687	S1079P	probably damaging	Het
Taf5	T	C	19: 47,068,210	L149P	probably benign	Het
Taf6l	T	C	19: 8,775,266	M379V	probably benign	Het
Tcf25	T	C	8: 123,399,292	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,179,618	V102A	probably benign	Het
Tmc5	G	T	7: 118,627,233	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,033,670	L127P	possibly damaging	Het
Usp24	A	C	4: 106,438,770		probably benign	Het
Usp24	C	A	4: 106,438,772		probably benign	Het
Usp43	T	G	11: 67,855,755	D1042A	probably benign	Het
Whrn	T	C	4: 63,419,472	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,954,716	I102T	probably benign	Het
Zfp763	T	C	17: 33,019,934	D79G	probably benign	Het
Zmat4	A	G	8: 23,797,373	Y45C	probably damaging	Het

Other mutations in Pik3c2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Pik3c2b	APN	1	133091618	missense	probably damaging	0.98
IGL01288:Pik3c2b	APN	1	133094805	missense	probably damaging	0.96
IGL01313:Pik3c2b	APN	1	133071631	nonsense	probably null
IGL01367:Pik3c2b	APN	1	133105988	missense	probably benign	0.02
IGL02379:Pik3c2b	APN	1	133094791	missense	probably damaging	1.00
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
R7916:Pik3c2b	UTSW	1	133100904	missense	probably benign	0.30
R7960:Pik3c2b	UTSW	1	133103849	missense	probably damaging	1.00
R7981:Pik3c2b	UTSW	1	133075809	critical splice acceptor site	probably null
R8346:Pik3c2b	UTSW	1	133090246	missense	probably damaging	0.97
R8938:Pik3c2b	UTSW	1	133088330	missense	probably benign	0.19
R8997:Pik3c2b	UTSW	1	133090779	missense	possibly damaging	0.83
R9416:Pik3c2b	UTSW	1	133077449	missense	probably damaging	1.00
R9598:Pik3c2b	UTSW	1	133084987	critical splice donor site	probably null
R9621:Pik3c2b	UTSW	1	133071607	missense	probably damaging	1.00
R9742:Pik3c2b	UTSW	1	133094749	missense	probably damaging	1.00
R9776:Pik3c2b	UTSW	1	133090850	missense	possibly damaging	0.64
R9786:Pik3c2b	UTSW	1	133091600	missense	possibly damaging	0.94
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 On

2015-04-16