Mutagenetix > Incidental Mutation

Incidental Mutation 'R4820:Pik3cb'

370148

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

042436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4820 (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 98955679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 413 (T413A)

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: T413A

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

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: T413A

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: T413A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462
AA Change: T413A

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

0.0583

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

96% (104/108)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,481 (GRCm39)		noncoding transcript	Het
5730455P16Rik	A	T	11: 80,266,346 (GRCm39)	S132T	possibly damaging	Het
Aadacl3	T	A	4: 144,184,527 (GRCm39)	H77L	probably damaging	Het
Actr5	T	A	2: 158,467,426 (GRCm39)	V122D	probably damaging	Het
Adamts7	A	G	9: 90,071,739 (GRCm39)	D678G	possibly damaging	Het
Alpk1	T	A	3: 127,464,708 (GRCm39)	D1190V	probably benign	Het
Apbb1ip	A	T	2: 22,765,265 (GRCm39)	N649Y	unknown	Het
Atp6v0a1	A	G	11: 100,933,776 (GRCm39)	I522V	probably benign	Het
Brd10	T	C	19: 29,695,809 (GRCm39)	N1228S	possibly damaging	Het
Cars1	T	C	7: 143,124,301 (GRCm39)	D375G	probably damaging	Het
Catspere1	A	T	1: 177,687,441 (GRCm39)		noncoding transcript	Het
Ccdc87	A	G	19: 4,890,579 (GRCm39)	D357G	probably damaging	Het
Cd101	A	T	3: 100,929,471 (GRCm39)	S8T	probably benign	Het
Cfap65	C	T	1: 74,966,791 (GRCm39)	A299T	probably benign	Het
Cic	T	C	7: 24,971,157 (GRCm39)	V296A	possibly damaging	Het
Col7a1	T	A	9: 108,797,675 (GRCm39)	S1686T	possibly damaging	Het
Ctbp2	A	C	7: 132,615,423 (GRCm39)	L504R	probably damaging	Het
Cttnbp2nl	T	C	3: 104,918,640 (GRCm39)	K67E	probably benign	Het
Cyp2c50	C	T	19: 40,102,024 (GRCm39)	P480S	probably damaging	Het
Dcdc5	A	C	2: 106,166,420 (GRCm39)		noncoding transcript	Het
Defb2	G	T	8: 22,333,317 (GRCm39)	E31*	probably null	Het
Dhrs1	T	A	14: 55,977,083 (GRCm39)	N244I	possibly damaging	Het
Dop1b	A	G	16: 93,589,978 (GRCm39)	I134V	probably benign	Het
Eif1ad11	A	T	12: 87,994,158 (GRCm39)	I129F	unknown	Het
Etl4	A	G	2: 20,811,496 (GRCm39)	D1193G	possibly damaging	Het
Ezh1	A	C	11: 101,094,594 (GRCm39)	S399R	probably damaging	Het
Fam161a	T	C	11: 22,970,076 (GRCm39)	S26P	probably damaging	Het
Fcgbp	C	A	7: 27,813,383 (GRCm39)	S2306Y	probably damaging	Het
Fras1	T	C	5: 96,876,512 (GRCm39)	I2415T	probably benign	Het
Gas2l3	A	G	10: 89,252,907 (GRCm39)	L246P	probably damaging	Het
Gdf15	C	T	8: 71,082,246 (GRCm39)	V287M	probably damaging	Het
Gm7742	T	C	17: 21,420,235 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,507,363 (GRCm39)	D446G	probably damaging	Het
Hemk1	A	G	9: 107,205,385 (GRCm39)	F107L	probably benign	Het
Hmgcr	C	T	13: 96,796,700 (GRCm39)	G197S	probably damaging	Het
Ift52	G	A	2: 162,873,108 (GRCm39)	G207D	probably benign	Het
Il17re	A	G	6: 113,442,816 (GRCm39)	T275A	probably benign	Het
Iqcf3	T	C	9: 106,430,788 (GRCm39)		probably benign	Het
Kcna1	A	G	6: 126,619,099 (GRCm39)	I407T	probably damaging	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Lhx9	C	A	1: 138,766,105 (GRCm39)	V237L	probably benign	Het
Lipo3	A	C	19: 33,560,497 (GRCm39)	I56S	probably damaging	Het
Loxhd1	C	G	18: 77,472,663 (GRCm39)	P1060R	probably damaging	Het
Map2k4	A	C	11: 65,587,201 (GRCm39)		probably benign	Het
Methig1	A	G	15: 100,251,416 (GRCm39)	K109R	possibly damaging	Het
Mmrn1	G	A	6: 60,950,027 (GRCm39)	V326I	probably benign	Het
Myo15a	G	A	11: 60,367,741 (GRCm39)	R167H	probably damaging	Het
Ncoa7	G	A	10: 30,524,472 (GRCm39)	T142M	probably damaging	Het
Nfkb2	C	A	19: 46,296,493 (GRCm39)	Q254K	probably damaging	Het
Nherf1	A	G	11: 115,070,918 (GRCm39)	E290G	probably benign	Het
Nol6	G	T	4: 41,121,508 (GRCm39)	P278Q	probably damaging	Het
Nptxr	T	A	15: 79,677,027 (GRCm39)	D285V	probably damaging	Het
Oosp3	T	C	19: 11,688,997 (GRCm39)	W82R	probably damaging	Het
Or6b3	A	T	1: 92,438,812 (GRCm39)	*313K	probably null	Het
Or6n1	A	G	1: 173,916,742 (GRCm39)	I45M	possibly damaging	Het
Pa2g4	G	T	10: 128,395,199 (GRCm39)	T322K	probably damaging	Het
Parp16	C	A	9: 65,145,175 (GRCm39)	F291L	probably damaging	Het
Pdzd9	A	T	7: 120,267,619 (GRCm39)	D65E	probably damaging	Het
Pgap3	A	G	11: 98,281,300 (GRCm39)	W238R	probably damaging	Het
Pgf	G	A	12: 85,218,538 (GRCm39)	H67Y	probably benign	Het
Plcxd2	A	T	16: 45,800,700 (GRCm39)	C175S	probably benign	Het
Pou2f1	A	T	1: 165,719,517 (GRCm39)		probably benign	Het
Ppfia1	T	G	7: 144,052,106 (GRCm39)	N846T	probably benign	Het
Ppid	T	A	3: 79,502,504 (GRCm39)		probably null	Het
Prkcq	G	A	2: 11,231,797 (GRCm39)		probably null	Het
Ptgds	T	C	2: 25,359,058 (GRCm39)	K66E	probably benign	Het
Ptpmt1	A	G	2: 90,748,283 (GRCm39)		noncoding transcript	Het
Rab3il1	G	A	19: 10,004,034 (GRCm39)	G51D	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rpl7l1	T	C	17: 47,089,014 (GRCm39)	N239S	probably benign	Het
Rrbp1	C	A	2: 143,806,685 (GRCm39)	A978S	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,291,622 (GRCm39)	I1708N	probably damaging	Het
Serinc1	A	G	10: 57,401,466 (GRCm39)	I109T	possibly damaging	Het
Shroom1	G	A	11: 53,355,966 (GRCm39)	V339I	probably benign	Het
Slc30a8	T	A	15: 52,169,880 (GRCm39)	C36S	probably benign	Het
Slco1b2	A	G	6: 141,631,158 (GRCm39)	I597M	probably benign	Het
Snx27	A	G	3: 94,427,518 (GRCm39)	F228S	probably damaging	Het
Spata31f1a	T	A	4: 42,851,815 (GRCm39)	I114F	probably damaging	Het
Speer4e2	G	T	5: 15,026,225 (GRCm39)	T144K	probably benign	Het
Stim1	T	A	7: 102,064,571 (GRCm39)	F214I	probably damaging	Het
Svep1	T	C	4: 58,082,664 (GRCm39)	T1987A	probably benign	Het
Tamm41	A	G	6: 115,002,378 (GRCm39)	I18T	possibly damaging	Het
Tmem150b	T	A	7: 4,726,871 (GRCm39)	D79V	probably damaging	Het
Tmem167	T	A	13: 90,252,548 (GRCm39)	I68N	probably benign	Het
Traf3	A	G	12: 111,227,204 (GRCm39)	E339G	possibly damaging	Het
Tspan12	G	A	6: 21,795,660 (GRCm39)	P177S	probably damaging	Het
Ttn	A	G	2: 76,783,562 (GRCm39)	I810T	probably benign	Het
Ulk1	T	C	5: 110,939,996 (GRCm39)	T407A	probably benign	Het
Uroc1	G	A	6: 90,334,600 (GRCm39)		probably null	Het
Vmn2r-ps69	T	C	7: 84,959,584 (GRCm39)		noncoding transcript	Het
Wdr59	T	C	8: 112,207,446 (GRCm39)	N476S	probably benign	Het
Zfp472	A	G	17: 33,196,416 (GRCm39)	M164V	probably benign	Het
Zfp608	T	C	18: 55,120,756 (GRCm39)	N277S	probably benign	Het
Zfp831	T	C	2: 174,547,097 (GRCm39)	C1427R	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
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
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'- TTGACACGAACTCGGAAACTC -3'
(R):5'- ACAGGTTCATGTCCGAGCTG -3'

Sequencing Primer
(F):5'- CGAACTCGGAAACTCATTATCTTC -3'
(R):5'- GCTTTTTCACGGAACCGAG -3'

Posted On

2016-02-04