Mutagenetix > Incidental Mutation

Incidental Mutation 'R2011:Pik3cb'

219724

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

040020-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98920455-99022264 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98987632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 35 (Y35*)

Ref Sequence

ENSEMBL: ENSMUSP00000138346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035037] [ENSMUST00000124723] [ENSMUST00000136965]

AlphaFold

Q8BTI9

Predicted Effect

probably null
Transcript: ENSMUST00000035037
AA Change: Y35*

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: Y35*

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 null
Transcript: ENSMUST00000124723
AA Change: Y35*

SMART Domains

Protein: ENSMUSP00000121466
Gene: ENSMUSG00000032462
AA Change: Y35*

Domain	Start	End	E-Value	Type
Pfam:PI3K_p85B	35	68	3.6e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000136965
AA Change: Y35*

SMART Domains

Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462
AA Change: Y35*

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,042,742 (GRCm38)	T100S	probably benign	Het
Adam6a	T	C	12: 113,508,998 (GRCm39)	I457T	probably benign	Het
Aff3	T	C	1: 38,246,996 (GRCm39)	N863S	probably benign	Het
Agk	C	A	6: 40,353,168 (GRCm39)	D177E	probably benign	Het
Alg9	C	T	9: 50,699,500 (GRCm39)	A209V	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Bpi	A	T	2: 158,103,272 (GRCm39)	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Cblc	T	A	7: 19,518,747 (GRCm39)	D452V	probably benign	Het
Ccar1	T	C	10: 62,612,473 (GRCm39)	T231A	probably benign	Het
Ccdc112	A	G	18: 46,420,499 (GRCm39)	L417P	probably damaging	Het
Ccdc34	G	A	2: 109,874,649 (GRCm39)	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,844,829 (GRCm39)	S305P	probably benign	Het
Clip2	T	C	5: 134,531,969 (GRCm39)	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360 (GRCm39)	T692A	probably benign	Het
Copg2	A	T	6: 30,793,676 (GRCm39)		probably null	Het
Ctnna2	T	A	6: 76,950,774 (GRCm39)	I566F	possibly damaging	Het
Cux2	C	T	5: 121,999,389 (GRCm39)	D1184N	probably benign	Het
Dclk3	A	G	9: 111,297,422 (GRCm39)	E322G	probably benign	Het
Ddx41	A	T	13: 55,681,906 (GRCm39)		probably null	Het
Dnaaf2	G	A	12: 69,243,559 (GRCm39)	P107S	probably damaging	Het
Eif2ak4	A	G	2: 118,261,428 (GRCm39)	E578G	probably damaging	Het
Exd1	A	G	2: 119,359,144 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,173,583 (GRCm39)	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,858,214 (GRCm39)	T741A	probably benign	Het
Fgr	C	A	4: 132,724,832 (GRCm39)	A311E	probably damaging	Het
Fmo4	T	C	1: 162,626,458 (GRCm39)	T363A	probably damaging	Het
Fsbp	T	C	4: 11,584,006 (GRCm39)	V235A	probably benign	Het
Gm1110	T	A	9: 26,805,554 (GRCm39)	H366L	probably benign	Het
Gm43302	T	C	5: 105,438,846 (GRCm39)	N14S	probably damaging	Het
Gm5422	A	G	10: 31,124,764 (GRCm39)		noncoding transcript	Het
Gm57858	A	T	3: 36,064,827 (GRCm39)	C515*	probably null	Het
Gpr21	A	G	2: 37,407,547 (GRCm39)	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,646,207 (GRCm39)	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,553,085 (GRCm39)	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,883,598 (GRCm39)	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,723 (GRCm39)	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,735,169 (GRCm39)	S87P	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Iqca1	T	C	1: 89,973,348 (GRCm39)	N808S	probably benign	Het
Kcnu1	A	G	8: 26,408,470 (GRCm39)	I94V	probably benign	Het
Lrba	A	T	3: 86,217,324 (GRCm39)	E517V	probably damaging	Het
Mcidas	A	G	13: 113,130,515 (GRCm39)	E37G	possibly damaging	Het
Med23	T	A	10: 24,755,653 (GRCm39)	F83L	possibly damaging	Het
Micu2	T	C	14: 58,191,590 (GRCm39)		probably null	Het
Mrgprx2	A	T	7: 48,132,282 (GRCm39)	C179S	probably damaging	Het
Myo6	A	G	9: 80,215,004 (GRCm39)	T1236A	probably damaging	Het
Myo7a	A	T	7: 97,703,915 (GRCm39)	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122 (GRCm38)	Y695F	probably damaging	Het
Nr3c2	A	T	8: 77,636,422 (GRCm39)	I508F	possibly damaging	Het
Or11g27	T	C	14: 50,771,141 (GRCm39)	S91P	probably damaging	Het
Or14a260	A	T	7: 85,984,955 (GRCm39)	Y216*	probably null	Het
Or2ag13	T	C	7: 106,472,634 (GRCm39)	I273V	probably benign	Het
Or5w1b	A	T	2: 87,476,233 (GRCm39)	I78N	probably damaging	Het
Or8k23	A	T	2: 86,186,530 (GRCm39)	H65Q	possibly damaging	Het
Or9s13	T	C	1: 92,548,471 (GRCm39)	V281A	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
P2ry10	A	C	X: 106,146,241 (GRCm39)	I59L	probably damaging	Het
Parp11	A	G	6: 127,454,854 (GRCm39)	N124S	probably benign	Het
Pcdh7	T	A	5: 57,876,971 (GRCm39)	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phc2	T	A	4: 128,617,378 (GRCm39)	V468E	probably benign	Het
Piezo2	T	C	18: 63,192,815 (GRCm39)	T1605A	probably damaging	Het
Piwil2	A	T	14: 70,664,083 (GRCm39)	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889 (GRCm39)	F101L	probably damaging	Het
Pomt2	A	G	12: 87,158,173 (GRCm39)	L680P	possibly damaging	Het
Ppp1r36	A	G	12: 76,465,700 (GRCm39)		probably null	Het
Prkag2	C	T	5: 25,076,052 (GRCm39)		probably null	Het
Prkg1	T	C	19: 31,641,542 (GRCm39)	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,499,352 (GRCm39)	G45D	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rlig1	T	G	10: 100,419,820 (GRCm39)	D58A	probably damaging	Het
Rtcb	A	T	10: 85,777,797 (GRCm39)	I459N	probably damaging	Het
Rtp3	A	T	9: 110,815,102 (GRCm39)		probably benign	Het
Rundc3b	T	A	5: 8,562,409 (GRCm39)		probably null	Het
Scube3	A	G	17: 28,387,132 (GRCm39)	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,799,394 (GRCm39)	Q421L	probably benign	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,500,833 (GRCm39)	F437L	probably benign	Het
Slco3a1	G	A	7: 73,996,419 (GRCm39)	A329V	probably benign	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spen	A	T	4: 141,200,640 (GRCm39)	N2662K	probably damaging	Het
Sptb	G	C	12: 76,679,246 (GRCm39)	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,644 (GRCm39)	S136P	probably damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,979,971 (GRCm39)		probably null	Het
Tchh	G	A	3: 93,354,268 (GRCm39)	R1236Q	unknown	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,132,966 (GRCm39)	R80H	probably benign	Het
Tpgs1	T	C	10: 79,511,722 (GRCm39)	L288P	probably damaging	Het
Trhde	T	C	10: 114,334,698 (GRCm39)	I659V	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Ttc5	C	A	14: 51,019,007 (GRCm39)	E37*	probably null	Het
Uvrag	A	G	7: 98,589,096 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,283 (GRCm39)	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,604,287 (GRCm39)	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,770,869 (GRCm39)	Y32*	probably null	Het
Wrn	A	G	8: 33,726,432 (GRCm39)	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,746,527 (GRCm39)	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,367,217 (GRCm39)	Q480*	probably null	Het
Zfp456	G	A	13: 67,514,993 (GRCm39)	Q238*	probably null	Het
Zranb3	T	A	1: 128,019,638 (GRCm39)	T35S	probably benign	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
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'- GCCTGAAAGTGAAACGTCTC -3'
(R):5'- CAGTGTCTCCTGTAGCTTCG -3'

Sequencing Primer
(F):5'- CTGAAAGTGAAACGTCTCTCTGC -3'
(R):5'- GACGCCGTGCCTTATTGTAAAGAC -3'

Posted On

2014-08-25