Mutagenetix > Incidental Mutation

Incidental Mutation 'R2006:Pik3c2b'

225480

Institutional Source

Beutler Lab

Gene Symbol

Pik3c2b

Ensembl Gene

ENSMUSG00000026447

Gene Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

Synonyms

PI3K-C2beta, C330011J12Rik

MMRRC Submission

040015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R2006 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132973410-133036429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132994282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 82 (R82L)

Ref Sequence

ENSEMBL: ENSMUSP00000115469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077730] [ENSMUST00000153707]

AlphaFold

E9QAN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077730
AA Change: R82L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: R82L

Domain	Start	End	E-Value	Type
low complexity region	155	160	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC
PI3K_rbd	363	465	2.15e-19	SMART
PI3K_C2	618	726	6.17e-29	SMART
PI3Ka	804	990	1.66e-84	SMART
PI3Kc	1078	1340	3.45e-132	SMART
PX	1364	1476	9.44e-27	SMART
low complexity region	1481	1492	N/A	INTRINSIC
C2	1517	1622	1.82e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145153

Predicted Effect

probably damaging
Transcript: ENSMUST00000153707
AA Change: R82L

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

SMART Domains

Protein: ENSMUSP00000115469
Gene: ENSMUSG00000026447
AA Change: R82L

Domain	Start	End	E-Value	Type
low complexity region	155	160	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186515

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,204,275 (GRCm39)	F333L	probably benign	Het
Abcc2	T	A	19: 43,793,500 (GRCm39)	F384Y	probably damaging	Het
Acr	C	T	15: 89,458,404 (GRCm39)	P362S	probably benign	Het
Acss3	T	C	10: 106,798,871 (GRCm39)	D484G	possibly damaging	Het
Actrt1	A	G	X: 45,418,593 (GRCm39)	T203A	probably benign	Het
Agtpbp1	A	T	13: 59,648,135 (GRCm39)	C562S	probably benign	Het
Ahnak	A	G	19: 8,984,439 (GRCm39)	K1908E	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Apaf1	A	T	10: 90,897,634 (GRCm39)	I283N	probably damaging	Het
Bbx	G	A	16: 50,044,758 (GRCm39)	T493M	possibly damaging	Het
Best2	C	T	8: 85,739,818 (GRCm39)		probably null	Het
C4bp	C	A	1: 130,575,769 (GRCm39)	E75*	probably null	Het
Calr3	A	T	8: 73,188,695 (GRCm39)	V144D	probably damaging	Het
Capn1	C	T	19: 6,041,613 (GRCm39)	G632D	probably damaging	Het
Catsper2	C	A	2: 121,236,838 (GRCm39)	E270*	probably null	Het
Ccdc110	A	T	8: 46,396,349 (GRCm39)	I747F	probably damaging	Het
Ccdc15	T	A	9: 37,226,768 (GRCm39)	D389V	possibly damaging	Het
Cd226	A	G	18: 89,265,435 (GRCm39)	I125V	probably benign	Het
Crb2	A	T	2: 37,673,446 (GRCm39)	D114V	probably damaging	Het
Crebbp	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	16: 3,902,617 (GRCm39)		probably benign	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Dab1	T	C	4: 104,462,522 (GRCm39)	I32T	probably damaging	Het
Daw1	T	C	1: 83,169,066 (GRCm39)	V181A	probably damaging	Het
Dlg2	G	A	7: 91,614,825 (GRCm39)	E255K	possibly damaging	Het
Dnah10	T	A	5: 124,906,651 (GRCm39)	D4170E	possibly damaging	Het
Dnah12	A	G	14: 26,536,416 (GRCm39)	T2111A	possibly damaging	Het
Dock10	T	C	1: 80,527,506 (GRCm39)	Y1081C	possibly damaging	Het
Dscam	T	C	16: 96,621,112 (GRCm39)	Y532C	probably damaging	Het
Fam83c	T	C	2: 155,672,223 (GRCm39)	D404G	probably benign	Het
Fam83g	A	G	11: 61,593,801 (GRCm39)	N445S	possibly damaging	Het
Ghr	C	T	15: 3,357,464 (GRCm39)	C268Y	probably damaging	Het
Gm8444	T	C	15: 81,727,775 (GRCm39)		probably benign	Het
Gp6	T	A	7: 4,387,988 (GRCm39)	K160N	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Gtf3c2	C	A	5: 31,325,440 (GRCm39)	G450C	probably damaging	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Il31ra	T	G	13: 112,666,890 (GRCm39)	Y396S	probably damaging	Het
Insig1	A	G	5: 28,276,464 (GRCm39)	N10S	probably benign	Het
Kcnh2	C	A	5: 24,531,568 (GRCm39)	G448C	probably damaging	Het
L1td1	C	T	4: 98,621,726 (GRCm39)	S96L	possibly damaging	Het
Mapre3	A	T	5: 31,019,168 (GRCm39)	N4I	probably damaging	Het
Mblac2	T	A	13: 81,859,860 (GRCm39)	D70E	probably benign	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mpg	A	G	11: 32,181,840 (GRCm39)	I283V	probably benign	Het
Mrtfb	G	T	16: 13,199,440 (GRCm39)	E98*	probably null	Het
Mybpc1	C	A	10: 88,381,921 (GRCm39)	A576S	probably damaging	Het
Myo1h	T	G	5: 114,499,140 (GRCm39)	V129G	probably damaging	Het
Nars1	A	T	18: 64,638,099 (GRCm39)	V285E	probably damaging	Het
Nbas	T	A	12: 13,464,742 (GRCm39)		probably null	Het
Neb	T	C	2: 52,089,456 (GRCm39)	D5172G	probably null	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Nyap1	T	C	5: 137,733,953 (GRCm39)	H360R	possibly damaging	Het
Nyx	A	G	X: 13,352,974 (GRCm39)	E276G	probably damaging	Het
Or10ag59	T	A	2: 87,405,536 (GRCm39)	M36K	probably benign	Het
Or1e1	G	T	11: 73,245,518 (GRCm39)	C313F	probably benign	Het
Or2l13b	A	G	16: 19,349,455 (GRCm39)	Y72H	probably benign	Het
Or2w6	T	C	13: 21,842,642 (GRCm39)	T284A	possibly damaging	Het
Or4c1	A	G	2: 89,133,160 (GRCm39)	Y259H	possibly damaging	Het
Or4c118	A	T	2: 88,975,241 (GRCm39)	V42E	probably benign	Het
Or5v1b	C	T	17: 37,841,597 (GRCm39)	S243F	probably damaging	Het
Or7e174	A	T	9: 20,012,165 (GRCm39)	M37L	probably benign	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Or8g23	T	A	9: 38,971,729 (GRCm39)	T78S	probably damaging	Het
Paf1	C	A	7: 28,095,193 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,280 (GRCm39)	D1050G	probably benign	Het
Pgap1	A	G	1: 54,590,220 (GRCm39)	S73P	possibly damaging	Het
Phtf1	G	A	3: 103,911,799 (GRCm39)		probably null	Het
Pik3ca	T	C	3: 32,504,206 (GRCm39)	L632P	probably damaging	Het
Plau	G	T	14: 20,888,760 (GRCm39)		probably null	Het
Pld4	A	T	12: 112,734,923 (GRCm39)	Q460L	possibly damaging	Het
Prdm2	T	A	4: 142,858,447 (GRCm39)	Q1614H	possibly damaging	Het
Ptprq	C	T	10: 107,502,407 (GRCm39)	G837D	probably damaging	Het
Rad9b	A	G	5: 122,477,842 (GRCm39)	V178A	possibly damaging	Het
Rfc1	G	T	5: 65,468,397 (GRCm39)	Y105*	probably null	Het
Sardh	G	A	2: 27,118,351 (GRCm39)	R460C	probably damaging	Het
Scn5a	C	A	9: 119,365,546 (GRCm39)	R367L	probably damaging	Het
Sdcbp	A	T	4: 6,386,536 (GRCm39)	I137L	probably benign	Het
Shmt2	A	G	10: 127,355,029 (GRCm39)	V273A	probably benign	Het
Slc5a9	G	T	4: 111,737,423 (GRCm39)	P612H	probably benign	Het
Slitrk4	TTGT	TT	X: 63,314,294 (GRCm39)		probably null	Het
Slitrk4	TG	T	X: 63,314,295 (GRCm39)		probably null	Het
Spata1	A	T	3: 146,199,438 (GRCm39)	S9T	probably benign	Het
Syn3	T	C	10: 85,909,097 (GRCm39)	T328A	probably benign	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tekt5	T	C	16: 10,213,070 (GRCm39)	I72V	probably benign	Het
Ticrr	T	C	7: 79,343,821 (GRCm39)	S1229P	possibly damaging	Het
Tlr6	T	C	5: 65,110,748 (GRCm39)	S720G	probably damaging	Het
Tmem156	T	A	5: 65,237,294 (GRCm39)	D87V	probably damaging	Het
Togaram1	T	A	12: 65,065,914 (GRCm39)	D1639E	probably damaging	Het
Ucn2	A	G	9: 108,815,430 (GRCm39)	K64R	probably benign	Het
Vmn2r57	T	A	7: 41,098,001 (GRCm39)	Y22F	probably benign	Het
Vwa1	T	C	4: 155,855,307 (GRCm39)	T269A	probably benign	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wdr20	T	C	12: 110,760,002 (GRCm39)	V296A	probably damaging	Het
Xxylt1	A	T	16: 30,869,586 (GRCm39)	H171Q	probably damaging	Het
Yju2	C	T	17: 56,271,543 (GRCm39)	Q155*	probably null	Het
Zfp275	A	G	X: 72,396,841 (GRCm39)	T118A	possibly damaging	Het

Other mutations in Pik3c2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Pik3c2b	APN	1	133,019,356 (GRCm39)	missense	probably damaging	0.98
IGL01288:Pik3c2b	APN	1	133,022,543 (GRCm39)	missense	probably damaging	0.96
IGL01313:Pik3c2b	APN	1	132,999,369 (GRCm39)	nonsense	probably null
IGL01367:Pik3c2b	APN	1	133,033,726 (GRCm39)	missense	probably benign	0.02
IGL02379:Pik3c2b	APN	1	133,022,529 (GRCm39)	missense	probably damaging	1.00
IGL02638:Pik3c2b	APN	1	133,005,056 (GRCm39)	splice site	probably benign
IGL02728:Pik3c2b	APN	1	133,020,065 (GRCm39)	missense	probably benign	0.09
IGL02992:Pik3c2b	APN	1	132,994,718 (GRCm39)	nonsense	probably null
IGL03121:Pik3c2b	APN	1	133,007,483 (GRCm39)	missense	probably benign	0.00
R0453:Pik3c2b	UTSW	1	133,005,134 (GRCm39)	missense	probably damaging	1.00
R0518:Pik3c2b	UTSW	1	133,033,730 (GRCm39)	missense	probably damaging	1.00
R0616:Pik3c2b	UTSW	1	133,028,569 (GRCm39)	missense	probably damaging	1.00
R0659:Pik3c2b	UTSW	1	132,998,938 (GRCm39)	missense	probably damaging	0.99
R1542:Pik3c2b	UTSW	1	133,017,772 (GRCm39)	missense	probably damaging	1.00
R1716:Pik3c2b	UTSW	1	133,022,564 (GRCm39)	missense	probably damaging	1.00
R1728:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1729:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1730:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1739:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1762:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1783:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1784:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1785:Pik3c2b	UTSW	1	132,994,365 (GRCm39)	missense	probably benign	0.00
R1816:Pik3c2b	UTSW	1	133,029,108 (GRCm39)	missense	probably benign	0.00
R1897:Pik3c2b	UTSW	1	132,994,654 (GRCm39)	missense	possibly damaging	0.57
R2067:Pik3c2b	UTSW	1	133,027,349 (GRCm39)	missense	probably damaging	1.00
R2271:Pik3c2b	UTSW	1	133,031,166 (GRCm39)	missense	probably benign
R2294:Pik3c2b	UTSW	1	132,994,513 (GRCm39)	missense	probably damaging	1.00
R2320:Pik3c2b	UTSW	1	133,031,151 (GRCm39)	missense	probably damaging	1.00
R4735:Pik3c2b	UTSW	1	132,994,787 (GRCm39)	missense	probably benign	0.25
R4926:Pik3c2b	UTSW	1	133,027,364 (GRCm39)	nonsense	probably null
R4948:Pik3c2b	UTSW	1	133,027,453 (GRCm39)	critical splice donor site	probably null
R4997:Pik3c2b	UTSW	1	133,032,819 (GRCm39)	missense	probably damaging	1.00
R5304:Pik3c2b	UTSW	1	132,998,146 (GRCm39)	missense	possibly damaging	0.50
R5461:Pik3c2b	UTSW	1	133,027,440 (GRCm39)	missense	possibly damaging	0.66
R5722:Pik3c2b	UTSW	1	133,031,574 (GRCm39)	missense	probably damaging	1.00
R5971:Pik3c2b	UTSW	1	133,002,365 (GRCm39)	splice site	probably null
R5980:Pik3c2b	UTSW	1	133,016,046 (GRCm39)	missense	probably benign	0.43
R6036:Pik3c2b	UTSW	1	133,018,451 (GRCm39)	missense	possibly damaging	0.95
R6138:Pik3c2b	UTSW	1	133,002,365 (GRCm39)	splice site	probably null
R6223:Pik3c2b	UTSW	1	132,998,095 (GRCm39)	missense	probably damaging	1.00
R6273:Pik3c2b	UTSW	1	132,994,449 (GRCm39)	missense	probably benign	0.02
R6742:Pik3c2b	UTSW	1	133,003,559 (GRCm39)	missense	probably benign
R6954:Pik3c2b	UTSW	1	132,994,041 (GRCm39)	missense	possibly damaging	0.50
R6998:Pik3c2b	UTSW	1	133,030,110 (GRCm39)	missense	probably benign	0.23
R7103:Pik3c2b	UTSW	1	133,033,712 (GRCm39)	missense	probably damaging	1.00
R7133:Pik3c2b	UTSW	1	133,017,972 (GRCm39)	missense	possibly damaging	0.73
R7161:Pik3c2b	UTSW	1	133,033,850 (GRCm39)	missense	probably damaging	0.98
R7183:Pik3c2b	UTSW	1	132,994,203 (GRCm39)	missense	probably benign	0.00
R7193:Pik3c2b	UTSW	1	133,007,512 (GRCm39)	missense	probably benign	0.00
R7252:Pik3c2b	UTSW	1	133,022,472 (GRCm39)	missense	probably benign	0.19
R7263:Pik3c2b	UTSW	1	133,017,940 (GRCm39)	missense	probably damaging	0.98
R7404:Pik3c2b	UTSW	1	133,018,444 (GRCm39)	missense	probably damaging	1.00
R7709:Pik3c2b	UTSW	1	133,007,579 (GRCm39)	critical splice donor site	probably null
R7712:Pik3c2b	UTSW	1	133,013,349 (GRCm39)	missense	probably damaging	1.00
R7823:Pik3c2b	UTSW	1	133,030,043 (GRCm39)	missense	probably damaging	1.00
R7831:Pik3c2b	UTSW	1	132,998,980 (GRCm39)	missense	possibly damaging	0.94
R7913:Pik3c2b	UTSW	1	133,017,799 (GRCm39)	critical splice donor site	probably null
R7916:Pik3c2b	UTSW	1	133,028,642 (GRCm39)	missense	probably benign	0.30
R7960:Pik3c2b	UTSW	1	133,031,587 (GRCm39)	missense	probably damaging	1.00
R7981:Pik3c2b	UTSW	1	133,003,547 (GRCm39)	critical splice acceptor site	probably null
R8346:Pik3c2b	UTSW	1	133,017,984 (GRCm39)	missense	probably damaging	0.97
R8938:Pik3c2b	UTSW	1	133,016,068 (GRCm39)	missense	probably benign	0.19
R8997:Pik3c2b	UTSW	1	133,018,517 (GRCm39)	missense	possibly damaging	0.83
R9416:Pik3c2b	UTSW	1	133,005,187 (GRCm39)	missense	probably damaging	1.00
R9598:Pik3c2b	UTSW	1	133,012,725 (GRCm39)	critical splice donor site	probably null
R9621:Pik3c2b	UTSW	1	132,999,345 (GRCm39)	missense	probably damaging	1.00
R9742:Pik3c2b	UTSW	1	133,022,487 (GRCm39)	missense	probably damaging	1.00
R9776:Pik3c2b	UTSW	1	133,018,588 (GRCm39)	missense	possibly damaging	0.64
R9786:Pik3c2b	UTSW	1	133,019,338 (GRCm39)	missense	possibly damaging	0.94
U15987:Pik3c2b	UTSW	1	133,002,365 (GRCm39)	splice site	probably null
X0060:Pik3c2b	UTSW	1	133,012,674 (GRCm39)	missense	probably benign	0.18
Z1176:Pik3c2b	UTSW	1	133,027,424 (GRCm39)	nonsense	probably null
Z1176:Pik3c2b	UTSW	1	132,994,291 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTTCCACTCAGGGCAATG -3'
(R):5'- CAAAGAGCATCTCCCCTCTGAG -3'

Sequencing Primer
(F):5'- CCGCAAAGAGCTGGCTATG -3'
(R):5'- CCTCTGAGCCATCAAAAATATAGAG -3'

Posted On

2014-08-25