Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Pik3cb'

707255

Institutional Source

Beutler Lab

Gene Symbol

Pik3cb

Ensembl Gene

ENSMUSG00000032462

Gene Name

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

Synonyms

p110beta, 1110001J02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99036654-99140621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99061791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 653 (F653S)

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 damaging
Transcript: ENSMUST00000035037
AA Change: F653S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: F653S

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

0.9565

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adad1	T	C	3: 37,085,098	V439A	possibly damaging	Het
Ahnak	G	A	19: 9,012,460		probably benign	Het
Arhgef10l	G	A	4: 140,611,313	T46I	probably damaging	Het
BC022687	T	C	12: 112,812,278	L218P	probably damaging	Het
C3ar1	A	G	6: 122,850,319	V313A	probably benign	Het
Capn13	T	A	17: 73,326,472		probably null	Het
Ccdc30	T	A	4: 119,333,723		probably null	Het
Ccdc7a	T	C	8: 128,889,838	Q928R	probably benign	Het
Cept1	A	G	3: 106,505,259	L299S	possibly damaging	Het
Cnot1	T	C	8: 95,741,820	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,429,346	L743P	probably benign	Het
Cop1	T	C	1: 159,244,651	V179A	probably benign	Het
Cpvl	A	G	6: 53,932,494	I219T	probably damaging	Het
Cyc1	T	C	15: 76,344,306	V45A	probably benign	Het
Dnhd1	T	A	7: 105,720,599	N4410K	probably benign	Het
Dok4	T	A	8: 94,866,841	T106S	probably benign	Het
Exosc10	T	C	4: 148,581,131	F842L	probably damaging	Het
Fam24b	T	A	7: 131,326,220	Y80F	probably benign	Het
Fbn2	G	A	18: 58,209,651	A52V	probably benign	Het
Gal3st3	A	T	19: 5,306,840	N81I	probably damaging	Het
Gm13283	T	A	4: 88,760,799	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,258,916	S58P		Het
Grm8	A	T	6: 27,761,215	S337T	probably benign	Het
Hdac5	G	A	11: 102,205,352	P332S	probably damaging	Het
Hr	A	T	14: 70,559,884	E519V	probably benign	Het
Hspbap1	A	G	16: 35,825,025	H360R	probably benign	Het
Iqgap3	T	G	3: 88,116,118		probably null	Het
Krtap5-3	T	A	7: 142,202,530	H175Q	unknown	Het
Lrrn4	A	T	2: 132,870,632	S424T	probably benign	Het
Lsm10	C	A	4: 126,097,867	H5Q	probably damaging	Het
Megf10	A	T	18: 57,261,180	K459*	probably null	Het
Myo15b	A	C	11: 115,859,035	K210N		Het
Olfr1085	T	C	2: 86,658,132	T109A	probably benign	Het
Olfr1126	T	A	2: 87,457,183	I6N	probably benign	Het
Park7	A	T	4: 150,907,096	C46S	probably damaging	Het
Plekha1	T	A	7: 130,909,618	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,063,759	M576K	unknown	Het
Prelid3b	G	A	2: 174,468,368	T74M	probably benign	Het
Prg4	T	C	1: 150,451,365	Y311C	probably damaging	Het
Prom2	A	C	2: 127,529,174	V801G	probably damaging	Het
Psmd9	T	A	5: 123,248,324	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521	L647F	probably damaging	Het
Ptprj	T	C	2: 90,439,894	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,718,378	I449T	probably damaging	Het
Rev3l	A	T	10: 39,822,854	S1116C	probably benign	Het
Rnf212	A	T	5: 108,774,889	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,589,000	S2T	probably benign	Het
Rrp8	T	C	7: 105,734,177	D294G	probably damaging	Het
Rtf2	A	T	2: 172,466,285	K201N	probably damaging	Het
Runx3	A	G	4: 135,163,263	T173A	probably damaging	Het
Sardh	T	C	2: 27,196,666	I827M	probably benign	Het
Sec22b	T	C	3: 97,921,178	Y186H	probably benign	Het
Serpina5	C	T	12: 104,105,283	T383I	possibly damaging	Het
Slc12a2	A	G	18: 57,930,166	D906G	probably damaging	Het
Socs1	T	C	16: 10,784,714	D53G	possibly damaging	Het
Stat1	G	T	1: 52,152,270	A595S	probably benign	Het
Stat3	A	T	11: 100,907,989		probably null	Het
Styxl1	T	C	5: 135,765,738	S82G	probably benign	Het
Taf1b	T	A	12: 24,547,122	D353E	possibly damaging	Het
Tbce	T	C	13: 14,019,813	K87R	probably benign	Het
Thada	T	C	17: 84,441,777	M589V	probably benign	Het
Them5	A	G	3: 94,346,741	M257V	unknown	Het
Tln1	A	T	4: 43,532,927	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,225,864	S379G	probably damaging	Het
Vrk1	T	C	12: 106,058,698		probably null	Het
Zbtb34	T	C	2: 33,411,704	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,801,012	C214R	probably benign	Het
Zeb2	A	G	2: 45,022,900	V137A	probably benign	Het

Other mutations in Pik3cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Pik3cb	APN	9	99101286	missense	probably damaging	0.96
IGL01354:Pik3cb	APN	9	99064168	missense	possibly damaging	0.83
IGL02132:Pik3cb	APN	9	99071377	missense	probably benign	0.01
IGL02268:Pik3cb	APN	9	99046556	missense	probably benign	0.00
IGL02376:Pik3cb	APN	9	99052352	missense	probably benign	0.00
IGL02378:Pik3cb	APN	9	99062840	missense	probably benign	0.40
IGL02748:Pik3cb	APN	9	99062968	splice site	probably benign
IGL03038:Pik3cb	APN	9	99065597	missense	probably damaging	1.00
IGL03142:Pik3cb	APN	9	99065562	missense	probably benign	0.10
H8786:Pik3cb	UTSW	9	99046559	missense	possibly damaging	0.80
R0071:Pik3cb	UTSW	9	99044865	missense	probably benign	0.02
R0071:Pik3cb	UTSW	9	99044865	missense	probably benign	0.02
R0305:Pik3cb	UTSW	9	99064076	missense	possibly damaging	0.86
R0464:Pik3cb	UTSW	9	99044743	critical splice donor site	probably null
R0635:Pik3cb	UTSW	9	99064218	splice site	probably benign
R1386:Pik3cb	UTSW	9	99064027	missense	possibly damaging	0.90
R1530:Pik3cb	UTSW	9	99053973	missense	probably damaging	0.96
R1802:Pik3cb	UTSW	9	99101289	nonsense	probably null
R1815:Pik3cb	UTSW	9	99093095	missense	possibly damaging	0.93
R2011:Pik3cb	UTSW	9	99105579	nonsense	probably null
R2079:Pik3cb	UTSW	9	99060204	missense	probably benign	0.27
R2153:Pik3cb	UTSW	9	99101244	nonsense	probably null
R2237:Pik3cb	UTSW	9	99041028	missense	probably damaging	1.00
R2238:Pik3cb	UTSW	9	99041028	missense	probably damaging	1.00
R2513:Pik3cb	UTSW	9	99061842	missense	probably damaging	1.00
R3982:Pik3cb	UTSW	9	99046601	missense	probably benign	0.06
R4009:Pik3cb	UTSW	9	99040929	missense	probably damaging	0.98
R4246:Pik3cb	UTSW	9	99101176	splice site	probably null
R4248:Pik3cb	UTSW	9	99101176	splice site	probably null
R4249:Pik3cb	UTSW	9	99101176	splice site	probably null
R4334:Pik3cb	UTSW	9	99061851	missense	probably damaging	1.00
R4544:Pik3cb	UTSW	9	99039759	missense	probably damaging	1.00
R4568:Pik3cb	UTSW	9	99090302	missense	probably benign	0.00
R4571:Pik3cb	UTSW	9	99090257	missense	possibly damaging	0.94
R4595:Pik3cb	UTSW	9	99055406	missense	possibly damaging	0.95
R4599:Pik3cb	UTSW	9	99061764	missense	probably benign	0.15
R4820:Pik3cb	UTSW	9	99073626	missense	probably benign	0.00
R4887:Pik3cb	UTSW	9	99101328	missense	probably damaging	0.99
R4967:Pik3cb	UTSW	9	99105632	missense	probably benign	0.14
R5029:Pik3cb	UTSW	9	99054060	missense	probably damaging	0.98
R5031:Pik3cb	UTSW	9	99071408	missense	probably damaging	1.00
R5394:Pik3cb	UTSW	9	99088663	missense	probably benign
R5769:Pik3cb	UTSW	9	99093159	nonsense	probably null
R6128:Pik3cb	UTSW	9	99064099	missense	possibly damaging	0.95
R6250:Pik3cb	UTSW	9	99094598	missense	probably benign	0.01
R6354:Pik3cb	UTSW	9	99073643	missense	probably benign	0.00
R6370:Pik3cb	UTSW	9	99040934	missense	probably damaging	1.00
R6664:Pik3cb	UTSW	9	99094538	missense	possibly damaging	0.56
R6665:Pik3cb	UTSW	9	99073649	missense	probably benign	0.00
R6751:Pik3cb	UTSW	9	99094521	missense	probably benign
R6781:Pik3cb	UTSW	9	99040992	missense	possibly damaging	0.52
R6869:Pik3cb	UTSW	9	99060259	missense	probably benign	0.08
R6883:Pik3cb	UTSW	9	99101400	missense	probably benign	0.00
R7150:Pik3cb	UTSW	9	99093090	missense	probably damaging	1.00
R7446:Pik3cb	UTSW	9	99046658	missense	probably damaging	1.00
R7679:Pik3cb	UTSW	9	99088607	missense	probably benign	0.05
R7831:Pik3cb	UTSW	9	99088613	missense	probably benign
R8300:Pik3cb	UTSW	9	99046658	missense	probably damaging	1.00
R8837:Pik3cb	UTSW	9	99054064	missense	possibly damaging	0.65
R8911:Pik3cb	UTSW	9	99064148	missense	probably benign	0.40
R9299:Pik3cb	UTSW	9	99061791	missense	probably damaging	1.00
R9477:Pik3cb	UTSW	9	99040920	critical splice donor site	probably null
R9641:Pik3cb	UTSW	9	99073736	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGTGTAAATGTCACGGATGG -3'
(R):5'- TGTAAGCACATGACAGGCCTG -3'

Sequencing Primer
(F):5'- TGTAAATGTCACGGATGGATCAG -3'
(R):5'- ACATGACAGGCCTGGTCCAG -3'

Posted On

2022-04-18