Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03142:Pik3cb'

410716

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

1110001J02Rik, p110beta

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL03142

Quality Score

Status

Chromosome

Chromosomal Location

98920455-99022264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98947615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 521 (S521T)

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

probably benign
Transcript: ENSMUST00000035037
AA Change: S521T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: S521T

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc88c	T	C	12: 100,913,457 (GRCm39)	S523G	probably damaging	Het
Ccnb1	A	T	13: 100,920,039 (GRCm39)	D157E	probably damaging	Het
Cep43	T	A	17: 8,411,041 (GRCm39)	S331R	probably damaging	Het
Cfap70	T	C	14: 20,447,283 (GRCm39)	T1055A	probably damaging	Het
Fn1	C	A	1: 71,676,455 (GRCm39)	R592L	probably damaging	Het
Frmpd4	T	A	X: 166,262,479 (GRCm39)	D550V	possibly damaging	Het
Gcm2	A	G	13: 41,256,711 (GRCm39)	V346A	probably benign	Het
Gm10112	C	T	X: 110,209,673 (GRCm39)	T4I	probably damaging	Het
Gm3115	T	C	14: 4,084,302 (GRCm38)		probably benign	Het
Has2	A	T	15: 56,545,491 (GRCm39)	I37N	possibly damaging	Het
Hmgn3	A	G	9: 83,028,482 (GRCm39)		probably benign	Het
Klhl29	T	A	12: 5,187,603 (GRCm39)	N254Y	probably damaging	Het
Kti12	A	G	4: 108,705,362 (GRCm39)	Y92C	probably damaging	Het
Lyset	G	A	12: 102,710,933 (GRCm39)	S52N	probably damaging	Het
Mgat5	A	C	1: 127,339,960 (GRCm39)	Q447P	probably damaging	Het
Mlh3	C	A	12: 85,297,075 (GRCm39)		probably null	Het
Mrpl45	T	C	11: 97,206,751 (GRCm39)	W18R	probably benign	Het
Mtor	A	G	4: 148,538,356 (GRCm39)	D138G	probably benign	Het
Mycbp2	C	T	14: 103,536,212 (GRCm39)	C246Y	probably damaging	Het
Mylk4	A	T	13: 32,904,582 (GRCm39)	V415E	probably damaging	Het
Olfm3	A	T	3: 114,890,679 (GRCm39)	Q124L	probably damaging	Het
Or4d11	A	T	19: 12,013,752 (GRCm39)	M118K	probably damaging	Het
Pam	C	T	1: 97,822,111 (GRCm39)	G298R	probably damaging	Het
Pappa2	A	C	1: 158,682,501 (GRCm39)	I849R	probably damaging	Het
Pde3a	T	A	6: 141,438,025 (GRCm39)	D1031E	probably benign	Het
Pkn1	A	G	8: 84,397,652 (GRCm39)	F824L	possibly damaging	Het
Pspn	C	T	17: 57,306,566 (GRCm39)	R121Q	probably benign	Het
Ric1	A	G	19: 29,578,380 (GRCm39)	D1195G	possibly damaging	Het
Sin3b	A	G	8: 73,471,196 (GRCm39)	D381G	probably damaging	Het
Slc37a3	T	C	6: 39,336,919 (GRCm39)		probably null	Het
Smtn	T	A	11: 3,482,601 (GRCm39)	K124*	probably null	Het
Tbce	A	G	13: 14,194,449 (GRCm39)	V70A	possibly damaging	Het
Tti1	A	G	2: 157,842,597 (GRCm39)	Y811H	probably damaging	Het
Uggt2	T	C	14: 119,235,603 (GRCm39)	Y1424C	probably damaging	Het
Upf1	A	G	8: 70,785,977 (GRCm39)	V994A	probably benign	Het
Vmn2r121	T	C	X: 123,042,635 (GRCm39)	D174G	possibly damaging	Het

Other mutations in Pik3cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Pik3cb	APN	9	98,983,339 (GRCm39)	missense	probably damaging	0.96
IGL01354:Pik3cb	APN	9	98,946,221 (GRCm39)	missense	possibly damaging	0.83
IGL02132:Pik3cb	APN	9	98,953,430 (GRCm39)	missense	probably benign	0.01
IGL02268:Pik3cb	APN	9	98,928,609 (GRCm39)	missense	probably benign	0.00
IGL02376:Pik3cb	APN	9	98,934,405 (GRCm39)	missense	probably benign	0.00
IGL02378:Pik3cb	APN	9	98,944,893 (GRCm39)	missense	probably benign	0.40
IGL02748:Pik3cb	APN	9	98,945,021 (GRCm39)	splice site	probably benign
IGL03038:Pik3cb	APN	9	98,947,650 (GRCm39)	missense	probably damaging	1.00
H8786:Pik3cb	UTSW	9	98,928,612 (GRCm39)	missense	possibly damaging	0.80
R0071:Pik3cb	UTSW	9	98,926,918 (GRCm39)	missense	probably benign	0.02
R0071:Pik3cb	UTSW	9	98,926,918 (GRCm39)	missense	probably benign	0.02
R0305:Pik3cb	UTSW	9	98,946,129 (GRCm39)	missense	possibly damaging	0.86
R0464:Pik3cb	UTSW	9	98,926,796 (GRCm39)	critical splice donor site	probably null
R0635:Pik3cb	UTSW	9	98,946,271 (GRCm39)	splice site	probably benign
R1386:Pik3cb	UTSW	9	98,946,080 (GRCm39)	missense	possibly damaging	0.90
R1530:Pik3cb	UTSW	9	98,936,026 (GRCm39)	missense	probably damaging	0.96
R1802:Pik3cb	UTSW	9	98,983,342 (GRCm39)	nonsense	probably null
R1815:Pik3cb	UTSW	9	98,975,148 (GRCm39)	missense	possibly damaging	0.93
R2011:Pik3cb	UTSW	9	98,987,632 (GRCm39)	nonsense	probably null
R2079:Pik3cb	UTSW	9	98,942,257 (GRCm39)	missense	probably benign	0.27
R2153:Pik3cb	UTSW	9	98,983,297 (GRCm39)	nonsense	probably null
R2237:Pik3cb	UTSW	9	98,923,081 (GRCm39)	missense	probably damaging	1.00
R2238:Pik3cb	UTSW	9	98,923,081 (GRCm39)	missense	probably damaging	1.00
R2513:Pik3cb	UTSW	9	98,943,895 (GRCm39)	missense	probably damaging	1.00
R3982:Pik3cb	UTSW	9	98,928,654 (GRCm39)	missense	probably benign	0.06
R4009:Pik3cb	UTSW	9	98,922,982 (GRCm39)	missense	probably damaging	0.98
R4246:Pik3cb	UTSW	9	98,983,229 (GRCm39)	splice site	probably null
R4248:Pik3cb	UTSW	9	98,983,229 (GRCm39)	splice site	probably null
R4249:Pik3cb	UTSW	9	98,983,229 (GRCm39)	splice site	probably null
R4334:Pik3cb	UTSW	9	98,943,904 (GRCm39)	missense	probably damaging	1.00
R4544:Pik3cb	UTSW	9	98,921,812 (GRCm39)	missense	probably damaging	1.00
R4568:Pik3cb	UTSW	9	98,972,355 (GRCm39)	missense	probably benign	0.00
R4571:Pik3cb	UTSW	9	98,972,310 (GRCm39)	missense	possibly damaging	0.94
R4595:Pik3cb	UTSW	9	98,937,459 (GRCm39)	missense	possibly damaging	0.95
R4599:Pik3cb	UTSW	9	98,943,817 (GRCm39)	missense	probably benign	0.15
R4820:Pik3cb	UTSW	9	98,955,679 (GRCm39)	missense	probably benign	0.00
R4887:Pik3cb	UTSW	9	98,983,381 (GRCm39)	missense	probably damaging	0.99
R4967:Pik3cb	UTSW	9	98,987,685 (GRCm39)	missense	probably benign	0.14
R5029:Pik3cb	UTSW	9	98,936,113 (GRCm39)	missense	probably damaging	0.98
R5031:Pik3cb	UTSW	9	98,953,461 (GRCm39)	missense	probably damaging	1.00
R5394:Pik3cb	UTSW	9	98,970,716 (GRCm39)	missense	probably benign
R5769:Pik3cb	UTSW	9	98,975,212 (GRCm39)	nonsense	probably null
R6128:Pik3cb	UTSW	9	98,946,152 (GRCm39)	missense	possibly damaging	0.95
R6250:Pik3cb	UTSW	9	98,976,651 (GRCm39)	missense	probably benign	0.01
R6354:Pik3cb	UTSW	9	98,955,696 (GRCm39)	missense	probably benign	0.00
R6370:Pik3cb	UTSW	9	98,922,987 (GRCm39)	missense	probably damaging	1.00
R6664:Pik3cb	UTSW	9	98,976,591 (GRCm39)	missense	possibly damaging	0.56
R6665:Pik3cb	UTSW	9	98,955,702 (GRCm39)	missense	probably benign	0.00
R6751:Pik3cb	UTSW	9	98,976,574 (GRCm39)	missense	probably benign
R6781:Pik3cb	UTSW	9	98,923,045 (GRCm39)	missense	possibly damaging	0.52
R6869:Pik3cb	UTSW	9	98,942,312 (GRCm39)	missense	probably benign	0.08
R6883:Pik3cb	UTSW	9	98,983,453 (GRCm39)	missense	probably benign	0.00
R7150:Pik3cb	UTSW	9	98,975,143 (GRCm39)	missense	probably damaging	1.00
R7446:Pik3cb	UTSW	9	98,928,711 (GRCm39)	missense	probably damaging	1.00
R7679:Pik3cb	UTSW	9	98,970,660 (GRCm39)	missense	probably benign	0.05
R7831:Pik3cb	UTSW	9	98,970,666 (GRCm39)	missense	probably benign
R8300:Pik3cb	UTSW	9	98,928,711 (GRCm39)	missense	probably damaging	1.00
R8837:Pik3cb	UTSW	9	98,936,117 (GRCm39)	missense	possibly damaging	0.65
R8911:Pik3cb	UTSW	9	98,946,201 (GRCm39)	missense	probably benign	0.40
R9299:Pik3cb	UTSW	9	98,943,844 (GRCm39)	missense	probably damaging	1.00
R9337:Pik3cb	UTSW	9	98,943,844 (GRCm39)	missense	probably damaging	1.00
R9477:Pik3cb	UTSW	9	98,922,973 (GRCm39)	critical splice donor site	probably null
R9641:Pik3cb	UTSW	9	98,955,789 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02