Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01354:Pik3cb'

75466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3cb

Ensembl Gene

ENSMUSG00000032462

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

Synonyms

p110beta, 1110001J02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL01354

Quality Score

Status

Chromosome

Chromosomal Location

99036654-99140621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99064168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 535 (I535T)

Ref Sequence

ENSEMBL: ENSMUSP00000035037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035037] [ENSMUST00000136965]

AlphaFold

Q8BTI9

PDB Structure

CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]
Discovery and Optimization of Pyrimidone Indoline Amide PI3Kbeta Inhibitors for the Treatment of Phosphatase and TENsin homologue (PTEN)-Deficient Cancers [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035037
AA Change: I535T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: I535T

Domain	Start	End	E-Value	Type
PI3K_p85B	35	112	2.44e-50	SMART
PI3K_rbd	174	282	1.88e-42	SMART
low complexity region	305	311	N/A	INTRINSIC
PI3K_C2	315	417	4.64e-33	SMART
PI3Ka	519	705	1.08e-92	SMART
PI3Kc	795	1061	8.75e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136965

SMART Domains

Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462

Domain	Start	End	E-Value	Type
PI3K_p85B	35	112	2.44e-50	SMART
PI3K_rbd	174	282	1.88e-42	SMART
low complexity region	305	311	N/A	INTRINSIC
PI3K_C2	315	417	4.64e-33	SMART
Blast:PI3Ka	450	520	1e-37	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia. Mice homozygous for a different knock-out allele die prior to E8.5 [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,527,376 (GRCm38)	L41P	probably damaging	Het
Baz2b	T	C	2: 59,968,889 (GRCm38)	Q297R	probably benign	Het
Chl1	A	T	6: 103,665,853 (GRCm38)	Q184L	probably benign	Het
Cyp2a5	A	G	7: 26,837,103 (GRCm38)	D169G	possibly damaging	Het
Cyp2d34	G	A	15: 82,617,622 (GRCm38)	T229M	probably benign	Het
Fgd5	C	T	6: 92,061,843 (GRCm38)	R995*	probably null	Het
Gaa	T	C	11: 119,270,568 (GRCm38)	S146P	probably benign	Het
Gm11437	T	A	11: 84,167,318 (GRCm38)		probably benign	Het
Gm6614	T	C	6: 141,990,408 (GRCm38)	N317S	probably benign	Het
Inpp5a	T	C	7: 139,538,234 (GRCm38)	F235L	probably damaging	Het
Lpp	T	A	16: 24,762,066 (GRCm38)	Y177*	probably null	Het
Malt1	A	G	18: 65,475,191 (GRCm38)	Y654C	probably damaging	Het
Olfr1302	A	C	2: 111,780,901 (GRCm38)	N194H	possibly damaging	Het
Olfr1380	T	C	11: 49,564,197 (GRCm38)	I92T	probably damaging	Het
Olfr878	G	A	9: 37,919,544 (GRCm38)	V301I	possibly damaging	Het
Otog	A	G	7: 46,289,726 (GRCm38)	N2060S	probably damaging	Het
Phc1	G	A	6: 122,334,083 (GRCm38)	T98I	probably damaging	Het
Plxna2	A	G	1: 194,762,435 (GRCm38)	I712V	probably benign	Het
Psmc2	A	G	5: 21,795,836 (GRCm38)	E103G	possibly damaging	Het
Ptprb	A	G	10: 116,343,891 (GRCm38)	I1405V	probably benign	Het
Ralgapa1	T	C	12: 55,777,316 (GRCm38)	N260D	possibly damaging	Het
Reln	G	A	5: 21,919,175 (GRCm38)	Q2778*	probably null	Het
Sptlc1	T	A	13: 53,333,951 (GRCm38)	Q452L	probably benign	Het
Traf4	C	A	11: 78,165,400 (GRCm38)	R14L	possibly damaging	Het
Ubap2	T	C	4: 41,207,005 (GRCm38)	E191G	probably damaging	Het
Vstm4	A	T	14: 32,919,245 (GRCm38)	T262S	probably benign	Het
Zrsr1	T	A	11: 22,974,190 (GRCm38)	H321Q	probably damaging	Het

Other mutations in Pik3cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Pik3cb	APN	9	99,101,286 (GRCm38)	missense	probably damaging	0.96
IGL02132:Pik3cb	APN	9	99,071,377 (GRCm38)	missense	probably benign	0.01
IGL02268:Pik3cb	APN	9	99,046,556 (GRCm38)	missense	probably benign	0.00
IGL02376:Pik3cb	APN	9	99,052,352 (GRCm38)	missense	probably benign	0.00
IGL02378:Pik3cb	APN	9	99,062,840 (GRCm38)	missense	probably benign	0.40
IGL02748:Pik3cb	APN	9	99,062,968 (GRCm38)	splice site	probably benign
IGL03038:Pik3cb	APN	9	99,065,597 (GRCm38)	missense	probably damaging	1.00
IGL03142:Pik3cb	APN	9	99,065,562 (GRCm38)	missense	probably benign	0.10
H8786:Pik3cb	UTSW	9	99,046,559 (GRCm38)	missense	possibly damaging	0.80
R0071:Pik3cb	UTSW	9	99,044,865 (GRCm38)	missense	probably benign	0.02
R0071:Pik3cb	UTSW	9	99,044,865 (GRCm38)	missense	probably benign	0.02
R0305:Pik3cb	UTSW	9	99,064,076 (GRCm38)	missense	possibly damaging	0.86
R0464:Pik3cb	UTSW	9	99,044,743 (GRCm38)	critical splice donor site	probably null
R0635:Pik3cb	UTSW	9	99,064,218 (GRCm38)	splice site	probably benign
R1386:Pik3cb	UTSW	9	99,064,027 (GRCm38)	missense	possibly damaging	0.90
R1530:Pik3cb	UTSW	9	99,053,973 (GRCm38)	missense	probably damaging	0.96
R1802:Pik3cb	UTSW	9	99,101,289 (GRCm38)	nonsense	probably null
R1815:Pik3cb	UTSW	9	99,093,095 (GRCm38)	missense	possibly damaging	0.93
R2011:Pik3cb	UTSW	9	99,105,579 (GRCm38)	nonsense	probably null
R2079:Pik3cb	UTSW	9	99,060,204 (GRCm38)	missense	probably benign	0.27
R2153:Pik3cb	UTSW	9	99,101,244 (GRCm38)	nonsense	probably null
R2237:Pik3cb	UTSW	9	99,041,028 (GRCm38)	missense	probably damaging	1.00
R2238:Pik3cb	UTSW	9	99,041,028 (GRCm38)	missense	probably damaging	1.00
R2513:Pik3cb	UTSW	9	99,061,842 (GRCm38)	missense	probably damaging	1.00
R3982:Pik3cb	UTSW	9	99,046,601 (GRCm38)	missense	probably benign	0.06
R4009:Pik3cb	UTSW	9	99,040,929 (GRCm38)	missense	probably damaging	0.98
R4246:Pik3cb	UTSW	9	99,101,176 (GRCm38)	splice site	probably null
R4248:Pik3cb	UTSW	9	99,101,176 (GRCm38)	splice site	probably null
R4249:Pik3cb	UTSW	9	99,101,176 (GRCm38)	splice site	probably null
R4334:Pik3cb	UTSW	9	99,061,851 (GRCm38)	missense	probably damaging	1.00
R4544:Pik3cb	UTSW	9	99,039,759 (GRCm38)	missense	probably damaging	1.00
R4568:Pik3cb	UTSW	9	99,090,302 (GRCm38)	missense	probably benign	0.00
R4571:Pik3cb	UTSW	9	99,090,257 (GRCm38)	missense	possibly damaging	0.94
R4595:Pik3cb	UTSW	9	99,055,406 (GRCm38)	missense	possibly damaging	0.95
R4599:Pik3cb	UTSW	9	99,061,764 (GRCm38)	missense	probably benign	0.15
R4820:Pik3cb	UTSW	9	99,073,626 (GRCm38)	missense	probably benign	0.00
R4887:Pik3cb	UTSW	9	99,101,328 (GRCm38)	missense	probably damaging	0.99
R4967:Pik3cb	UTSW	9	99,105,632 (GRCm38)	missense	probably benign	0.14
R5029:Pik3cb	UTSW	9	99,054,060 (GRCm38)	missense	probably damaging	0.98
R5031:Pik3cb	UTSW	9	99,071,408 (GRCm38)	missense	probably damaging	1.00
R5394:Pik3cb	UTSW	9	99,088,663 (GRCm38)	missense	probably benign
R5769:Pik3cb	UTSW	9	99,093,159 (GRCm38)	nonsense	probably null
R6128:Pik3cb	UTSW	9	99,064,099 (GRCm38)	missense	possibly damaging	0.95
R6250:Pik3cb	UTSW	9	99,094,598 (GRCm38)	missense	probably benign	0.01
R6354:Pik3cb	UTSW	9	99,073,643 (GRCm38)	missense	probably benign	0.00
R6370:Pik3cb	UTSW	9	99,040,934 (GRCm38)	missense	probably damaging	1.00
R6664:Pik3cb	UTSW	9	99,094,538 (GRCm38)	missense	possibly damaging	0.56
R6665:Pik3cb	UTSW	9	99,073,649 (GRCm38)	missense	probably benign	0.00
R6751:Pik3cb	UTSW	9	99,094,521 (GRCm38)	missense	probably benign
R6781:Pik3cb	UTSW	9	99,040,992 (GRCm38)	missense	possibly damaging	0.52
R6869:Pik3cb	UTSW	9	99,060,259 (GRCm38)	missense	probably benign	0.08
R6883:Pik3cb	UTSW	9	99,101,400 (GRCm38)	missense	probably benign	0.00
R7150:Pik3cb	UTSW	9	99,093,090 (GRCm38)	missense	probably damaging	1.00
R7446:Pik3cb	UTSW	9	99,046,658 (GRCm38)	missense	probably damaging	1.00
R7679:Pik3cb	UTSW	9	99,088,607 (GRCm38)	missense	probably benign	0.05
R7831:Pik3cb	UTSW	9	99,088,613 (GRCm38)	missense	probably benign
R8300:Pik3cb	UTSW	9	99,046,658 (GRCm38)	missense	probably damaging	1.00
R8837:Pik3cb	UTSW	9	99,054,064 (GRCm38)	missense	possibly damaging	0.65
R8911:Pik3cb	UTSW	9	99,064,148 (GRCm38)	missense	probably benign	0.40
R9299:Pik3cb	UTSW	9	99,061,791 (GRCm38)	missense	probably damaging	1.00
R9337:Pik3cb	UTSW	9	99,061,791 (GRCm38)	missense	probably damaging	1.00
R9477:Pik3cb	UTSW	9	99,040,920 (GRCm38)	critical splice donor site	probably null
R9641:Pik3cb	UTSW	9	99,073,736 (GRCm38)	missense	probably benign	0.00

Posted On

2013-10-07