Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Pik3c2b'

171779

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

039581-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R1542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132973410-133036429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133017772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 915 (L915P)

Ref Sequence

ENSEMBL: ENSMUSP00000076911 (fasta)

Gene Model

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

AlphaFold

E9QAN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077730
AA Change: L915P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: L915P

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,055 (GRCm39)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 57,156,791 (GRCm39)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,454,559 (GRCm39)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,266,286 (GRCm39)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,507,450 (GRCm39)	C112S	probably benign	Het
Als2cl	T	C	9: 110,723,102 (GRCm39)	V602A	probably benign	Het
Angptl2	G	T	2: 33,118,897 (GRCm39)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,127,825 (GRCm39)		probably null	Het
Aqp2	A	C	15: 99,481,723 (GRCm39)	I206L	probably benign	Het
Asap2	A	G	12: 21,315,998 (GRCm39)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,353,525 (GRCm39)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,360,054 (GRCm39)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,321,073 (GRCm39)	H331Y	probably benign	Het
Cd33	A	G	7: 43,181,530 (GRCm39)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,177,680 (GRCm39)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,825,061 (GRCm39)	T867K	probably damaging	Het
Cpeb2	C	T	5: 43,443,218 (GRCm39)	R970C	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dscaml1	T	A	9: 45,660,738 (GRCm39)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,207,418 (GRCm39)	M621L	probably benign	Het
Elp4	G	T	2: 105,624,954 (GRCm39)	T313N	probably benign	Het
Epas1	T	A	17: 87,131,918 (GRCm39)	I373N	possibly damaging	Het
Etnk1	A	T	6: 143,126,367 (GRCm39)	M71L	probably benign	Het
Fry	C	T	5: 150,328,431 (GRCm39)	T1257I	probably benign	Het
Gm21834	A	G	17: 58,048,946 (GRCm39)	F90S	possibly damaging	Het
Gm8674	T	A	13: 50,054,039 (GRCm39)		noncoding transcript	Het
Gna11	T	C	10: 81,369,162 (GRCm39)	T134A	probably benign	Het
Golga5	C	T	12: 102,440,979 (GRCm39)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,397,067 (GRCm39)	N1007Y	probably damaging	Het
H3c6	A	G	13: 23,746,338 (GRCm39)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,196,153 (GRCm39)	V253M	possibly damaging	Het
Insl5	A	T	4: 102,875,382 (GRCm39)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,395,320 (GRCm39)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,781,012 (GRCm39)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,566,352 (GRCm39)	D392N	probably null	Het
Lrp1b	G	T	2: 41,013,724 (GRCm39)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,454,793 (GRCm39)	L1399P	probably damaging	Het
Mbtps1	A	C	8: 120,272,986 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,661,981 (GRCm39)	S330T	probably benign	Het
Mical2	T	C	7: 111,908,675 (GRCm39)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,922,102 (GRCm39)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm39)	V48L	possibly damaging	Het
Napsa	A	T	7: 44,231,113 (GRCm39)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,147,623 (GRCm39)		probably null	Het
Nup62	A	G	7: 44,479,353 (GRCm39)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,964,318 (GRCm39)	W1301R	probably damaging	Het
Oprm1	G	T	10: 6,738,960 (GRCm39)	W29L	probably damaging	Het
Or10al2	A	T	17: 37,983,142 (GRCm39)	E76V	probably damaging	Het
Or1l4b	T	A	2: 37,036,978 (GRCm39)	S251R	probably damaging	Het
Or2c1	T	A	16: 3,657,696 (GRCm39)	N286K	probably damaging	Het
Or5w17	A	G	2: 87,583,662 (GRCm39)	V225A	probably damaging	Het
Pals2	A	G	6: 50,175,306 (GRCm39)	Y539C	probably damaging	Het
Pcnt	T	G	10: 76,225,221 (GRCm39)	N1761T	probably benign	Het
Pcnt	C	T	10: 76,237,220 (GRCm39)	M1355I	probably benign	Het
Pde11a	A	T	2: 75,877,199 (GRCm39)	S757T	probably benign	Het
Pde6a	T	A	18: 61,390,116 (GRCm39)	I490N	possibly damaging	Het
Pgap1	A	G	1: 54,531,249 (GRCm39)	V742A	probably benign	Het
Pkd1l1	A	G	11: 8,824,179 (GRCm39)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,050,124 (GRCm39)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,751,402 (GRCm39)	H300N	probably benign	Het
Prpf3	T	A	3: 95,743,782 (GRCm39)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,214,672 (GRCm39)	V914I	probably benign	Het
Rasal2	T	C	1: 157,003,421 (GRCm39)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,314,473 (GRCm39)	V382I	possibly damaging	Het
Rere	T	A	4: 150,700,399 (GRCm39)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,672,988 (GRCm39)	V805E	possibly damaging	Het
Septin10	T	G	10: 59,002,428 (GRCm39)	E162A	probably damaging	Het
Septin12	G	T	16: 4,810,159 (GRCm39)	D125E	probably benign	Het
Serpina6	A	G	12: 103,620,732 (GRCm39)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,200,517 (GRCm39)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,252,928 (GRCm39)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,230,376 (GRCm39)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,404,680 (GRCm39)	I245T	probably damaging	Het
Spink2	G	A	5: 77,354,812 (GRCm39)	T33I	probably damaging	Het
Sptan1	A	G	2: 29,917,139 (GRCm39)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,075,292 (GRCm39)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,957,873 (GRCm39)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,395,840 (GRCm39)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,686,495 (GRCm39)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,191,047 (GRCm39)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,365,426 (GRCm39)		probably null	Het
Tmc1	T	A	19: 20,793,486 (GRCm39)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,020,434 (GRCm39)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 123,342,146 (GRCm39)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,664,519 (GRCm39)	Y953*	probably null	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,034,983 (GRCm39)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,512,520 (GRCm39)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,494,226 (GRCm39)	N272K	possibly damaging	Het
Zfp526	G	A	7: 24,925,687 (GRCm39)	E649K	probably benign	Het
Zswim6	G	A	13: 107,863,769 (GRCm39)		noncoding transcript	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
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
R2006:Pik3c2b	UTSW	1	132,994,282 (GRCm39)	missense	probably damaging	1.00
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'- TGTCTGCCTAAGGGAGACTCTGTC -3'
(R):5'- CGTTTCAGGAGAAAGCGCACCAAG -3'

Sequencing Primer
(F):5'- TAAGAACTGCCCTCCAGGAGAG -3'
(R):5'- AGGGGCTATCCAGGTAGCAC -3'

Posted On

2014-04-13