Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Pik3cb'

426062

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

042966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98920455-99022264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98970716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 325 (N325S)

Ref Sequence

ENSEMBL: ENSMUSP00000138346 (fasta)

Gene Model

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

AlphaFold

Q8BTI9

Predicted Effect

probably benign
Transcript: ENSMUST00000035037
AA Change: N325S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: N325S

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
AA Change: N325S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462
AA Change: N325S

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

0.0608

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,363 (GRCm39)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,356,713 (GRCm39)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,896,174 (GRCm39)	T341A	probably benign	Het
Adamts13	G	A	2: 26,876,570 (GRCm39)	V495I	probably benign	Het
Alms1	C	A	6: 85,600,070 (GRCm39)	T2101K	probably benign	Het
Als2	T	C	1: 59,214,105 (GRCm39)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,412,496 (GRCm39)	M275K	probably benign	Het
Arfip2	A	T	7: 105,286,183 (GRCm39)	Y161*	probably null	Het
Asap3	A	T	4: 135,968,570 (GRCm39)	E707D	probably benign	Het
Atm	C	T	9: 53,419,077 (GRCm39)		probably null	Het
Atp9b	A	T	18: 80,820,052 (GRCm39)	S577R	probably benign	Het
Bltp1	G	T	3: 36,971,817 (GRCm39)	V517F	probably damaging	Het
Camk1d	G	C	2: 5,308,177 (GRCm39)	D274E	probably benign	Het
Cebpz	C	T	17: 79,229,634 (GRCm39)	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnst	T	A	1: 179,429,301 (GRCm39)		probably benign	Het
Cog2	G	T	8: 125,259,268 (GRCm39)	V196L	probably benign	Het
Col11a1	A	G	3: 113,987,833 (GRCm39)		probably null	Het
Cops6	T	A	5: 138,161,762 (GRCm39)		probably null	Het
Cspg4	A	G	9: 56,797,484 (GRCm39)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,759,683 (GRCm39)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,176,000 (GRCm39)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,152,328 (GRCm39)	D25E	probably damaging	Het
Ddx10	A	T	9: 53,145,157 (GRCm39)	Y273*	probably null	Het
Dhx58	T	C	11: 100,589,034 (GRCm39)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm39)	W2129*	probably null	Het
Egr4	A	T	6: 85,489,442 (GRCm39)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 137,830,709 (GRCm39)		probably null	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,844,470 (GRCm39)	M224L	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,682,075 (GRCm39)	K91E	probably benign	Het
Hecw1	A	T	13: 14,497,174 (GRCm39)	V278E	probably damaging	Het
Hydin	A	G	8: 111,266,474 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,875,641 (GRCm39)	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,537,039 (GRCm39)	T182S	probably benign	Het
Kplce	T	C	3: 92,776,005 (GRCm39)	E226G	probably damaging	Het
Lats2	T	G	14: 57,928,810 (GRCm39)	S1022R	probably benign	Het
Lef1	C	T	3: 130,988,308 (GRCm39)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,513,471 (GRCm39)	I79L	possibly damaging	Het
Macroh2a2	G	A	10: 61,587,466 (GRCm39)	T156M	possibly damaging	Het
Man2b2	T	G	5: 36,971,862 (GRCm39)	Q618P	probably benign	Het
Mei1	T	C	15: 81,976,957 (GRCm39)	V180A	possibly damaging	Het
Mmp15	A	T	8: 96,093,032 (GRCm39)	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mmut	T	A	17: 41,258,075 (GRCm39)	S414T	probably benign	Het
Myo18a	T	C	11: 77,744,176 (GRCm39)	M1846T	probably benign	Het
Neo1	A	T	9: 58,897,517 (GRCm39)	N146K	probably benign	Het
Nos3	A	G	5: 24,588,888 (GRCm39)	T1174A	probably benign	Het
Or10d4b	A	T	9: 39,534,430 (GRCm39)	T4S	probably benign	Het
Or10x1	T	C	1: 174,196,836 (GRCm39)	Y118H	probably damaging	Het
Or4c125	A	T	2: 89,169,806 (GRCm39)	I280N	probably damaging	Het
Or51f1	A	T	7: 102,505,686 (GRCm39)	S268T	probably damaging	Het
Pax8	A	T	2: 24,332,922 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,611,658 (GRCm39)	C532Y	probably damaging	Het
Pigq	T	C	17: 26,150,446 (GRCm39)	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,665,808 (GRCm39)	V43A	probably benign	Het
Pot1b	T	C	17: 56,007,063 (GRCm39)	K18R	probably benign	Het
Ppp1r42	A	T	1: 10,069,630 (GRCm39)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm39)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,728,898 (GRCm39)	K167N	probably benign	Het
Rnf123	T	C	9: 107,947,930 (GRCm39)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,634,411 (GRCm39)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,109,181 (GRCm39)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,317,339 (GRCm39)	N742D	probably benign	Het
Shank1	G	A	7: 44,002,075 (GRCm39)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,465,933 (GRCm39)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,199,758 (GRCm39)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,455,494 (GRCm39)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,345,623 (GRCm39)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm39)	D189E	probably benign	Het
Sspo	A	G	6: 48,472,194 (GRCm39)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,817,806 (GRCm39)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,757,036 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,892,233 (GRCm39)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,265,210 (GRCm39)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,608,777 (GRCm39)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,149,995 (GRCm39)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,595,862 (GRCm39)	V274A	probably benign	Het
Wdr17	A	G	8: 55,092,524 (GRCm39)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,417,283 (GRCm39)	R156L	probably damaging	Het
Zan	T	C	5: 137,433,896 (GRCm39)	D2279G	unknown	Het
Zan	T	C	5: 137,462,336 (GRCm39)	T948A	unknown	Het
Zfp758	T	C	17: 22,591,049 (GRCm39)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,822,020 (GRCm39)	E278G	probably benign	Het
Zfp994	T	A	17: 22,419,506 (GRCm39)	H481L	probably damaging	Het
Zswim9	G	A	7: 12,994,909 (GRCm39)	R416C	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
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
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'- TAGGAGAACAGCCAGGATTACATAC -3'
(R):5'- GAGCTGAGAGACTTGCATGG -3'

Sequencing Primer
(F):5'- GCACATGCCTTTAATCCCAG -3'
(R):5'- ATGAAGGGATGCTTACTCCCCATG -3'

Posted On

2016-08-04