Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Pik3cb'

71435

Institutional Source

Beutler Lab

Gene Symbol

Pik3cb

Ensembl Gene

ENSMUSG00000032462

Gene Name

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

Synonyms

1110001J02Rik, p110beta

MMRRC Submission

038664-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0464 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

98920455-99022264 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 98926796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000035037

SMART Domains

Protein: ENSMUSP00000035037
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
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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,574,884 (GRCm39)	Y84*	probably null	Het
Adar	T	A	3: 89,642,889 (GRCm39)	C257S	possibly damaging	Het
Adgrd1	G	T	5: 129,239,714 (GRCm39)	C507F	probably damaging	Het
Atp5f1a	T	C	18: 77,867,622 (GRCm39)	Y299H	probably benign	Het
Bok	G	T	1: 93,621,935 (GRCm39)	R77L	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Ceacam1	A	G	7: 25,171,442 (GRCm39)	S341P	possibly damaging	Het
Cfhr3	A	T	1: 139,521,683 (GRCm39)		noncoding transcript	Het
Ckap5	A	G	2: 91,409,858 (GRCm39)	I947V	probably benign	Het
Clec2i	T	C	6: 128,872,386 (GRCm39)	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,690 (GRCm39)	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 26,831,962 (GRCm39)	Q406K	probably benign	Het
Ddx28	A	G	8: 106,736,685 (GRCm39)	S458P	probably damaging	Het
Dppa3	T	A	6: 122,605,492 (GRCm39)		probably null	Het
Dusp10	C	A	1: 183,801,273 (GRCm39)	L347I	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fbxl15	A	T	19: 46,316,951 (GRCm39)	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567 (GRCm38)		probably benign	Het
Fras1	G	T	5: 96,784,662 (GRCm39)	V882F	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,361,726 (GRCm39)		probably benign	Het
Ganc	T	A	2: 120,267,175 (GRCm39)	V497D	probably benign	Het
Glt8d2	T	G	10: 82,490,564 (GRCm39)	H242P	possibly damaging	Het
Gna15	T	C	10: 81,348,338 (GRCm39)	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,371,712 (GRCm39)	K609E	unknown	Het
Gprc5a	A	T	6: 135,056,413 (GRCm39)	K287*	probably null	Het
Iqub	T	A	6: 24,479,262 (GRCm39)	K427*	probably null	Het
Itpr2	C	G	6: 146,277,387 (GRCm39)	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,234,269 (GRCm39)	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,693,426 (GRCm39)	E334G	probably damaging	Het
Lypd6	T	A	2: 50,080,690 (GRCm39)	I126N	probably damaging	Het
Ms4a20	A	G	19: 11,089,801 (GRCm39)	L28P	probably damaging	Het
Mtus1	T	C	8: 41,455,511 (GRCm39)	D56G	probably damaging	Het
Myo1h	A	G	5: 114,498,571 (GRCm39)	D889G	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nab1	T	C	1: 52,529,174 (GRCm39)	D241G	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncbp3	C	T	11: 72,960,647 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,525,307 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,447,615 (GRCm39)	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,109,070 (GRCm39)	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597 (GRCm39)		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 142,526,889 (GRCm39)		probably benign	Het
Paox	T	A	7: 139,709,195 (GRCm39)		probably benign	Het
Pcdh15	T	A	10: 74,462,676 (GRCm39)		probably null	Het
Pde8b	G	A	13: 95,241,206 (GRCm39)	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814 (GRCm39)	V905D	probably benign	Het
Rassf5	T	C	1: 131,139,998 (GRCm39)	N87S	probably benign	Het
Rbl1	C	A	2: 156,989,465 (GRCm39)	K1051N	probably damaging	Het
Rfx7	T	C	9: 72,525,486 (GRCm39)	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf144b	T	A	13: 47,396,363 (GRCm39)	Y233*	probably null	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sbf2	T	C	7: 110,063,783 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,253 (GRCm39)	K85N	probably damaging	Het
Siglec1	A	T	2: 130,921,279 (GRCm39)	C631S	probably damaging	Het
Simc1	C	T	13: 54,684,913 (GRCm39)	R50*	probably null	Het
Skint5	T	A	4: 113,392,928 (GRCm39)	M1235L	unknown	Het
Slc22a19	A	T	19: 7,660,278 (GRCm39)	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,849,573 (GRCm39)	F852L	possibly damaging	Het
Spata31e3	A	G	13: 50,402,311 (GRCm39)		probably benign	Het
Srbd1	G	A	17: 86,427,430 (GRCm39)	S401F	probably damaging	Het
Stk36	C	A	1: 74,650,331 (GRCm39)	Q288K	probably damaging	Het
Styx	T	C	14: 45,609,908 (GRCm39)	S191P	probably benign	Het
Supt6	T	A	11: 78,107,164 (GRCm39)	N1214I	probably benign	Het
Tcim	T	A	8: 24,928,644 (GRCm39)	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,578,782 (GRCm39)	M1L	probably damaging	Het
Tep1	T	A	14: 51,085,141 (GRCm39)	T881S	probably benign	Het
Tlr5	C	T	1: 182,801,275 (GRCm39)	A193V	probably benign	Het
Tmem117	T	A	15: 94,612,800 (GRCm39)	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,651,375 (GRCm39)	R1633W	probably damaging	Het
Trh	T	C	6: 92,220,649 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,851,186 (GRCm39)	R447G	possibly damaging	Het
Trip6	A	G	5: 137,311,943 (GRCm39)	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp33	T	C	3: 152,081,872 (GRCm39)		probably benign	Het
Vmn2r60	A	T	7: 41,785,255 (GRCm39)	I156F	probably damaging	Het
Wdr17	T	C	8: 55,123,427 (GRCm39)		probably benign	Het
Wdr35	G	T	12: 9,077,472 (GRCm39)		probably benign	Het
Wwp1	C	T	4: 19,638,763 (GRCm39)		probably benign	Het
Zfp652	T	C	11: 95,654,475 (GRCm39)	C293R	probably 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
IGL03142:Pik3cb	APN	9	98,947,615 (GRCm39)	missense	probably benign	0.10
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCAATCAAAAGATAGGCCACTGT -3'
(R):5'- TGGCTAAGGCTCTGCTAGGCAAT -3'

Sequencing Primer
(F):5'- TCAAAAGATAGGCCACTGTTAAAC -3'
(R):5'- ACTCTGCTTGGCAGCTTAG -3'

Posted On

2013-09-30