Mutagenetix > Incidental Mutation

Incidental Mutation 'R5417:Pik3c2g'

427783

Institutional Source

Beutler Lab

Gene Symbol

Pik3c2g

Ensembl Gene

ENSMUSG00000030228

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R5417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139591070-139915010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139682669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 17 (I17V)

Ref Sequence

ENSEMBL: ENSMUSP00000151281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111868] [ENSMUST00000218528]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000111868
AA Change: I135V

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

SMART Domains

Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: I135V

Domain	Start	End	E-Value	Type
SCOP:d1e8xa2	1	83	4e-16	SMART
PI3Ka	103	288	7.6e-29	SMART
PI3Kc	375	637	2.11e-109	SMART
PX	661	765	1.24e-21	SMART
C2	800	897	1.34e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187069

Predicted Effect

probably benign
Transcript: ENSMUST00000218528
AA Change: I17V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allelel exhibit reduced liver glucogen accumulation, hyperlipidemia, adiposity and insulin resistance with age or after consumption of a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	G	15: 76,619,301 (GRCm39)	V761A	possibly damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cfap65	T	C	1: 74,964,259 (GRCm39)	E563G	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Col17a1	C	A	19: 47,650,829 (GRCm39)	G732C	probably damaging	Het
Cped1	A	G	6: 22,233,579 (GRCm39)	I812V	probably null	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dgkg	A	T	16: 22,407,081 (GRCm39)	M168K	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dolpp1	T	C	2: 30,286,249 (GRCm39)	L18P	probably damaging	Het
Eif3e	A	T	15: 43,128,917 (GRCm39)	D234E	probably benign	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Fbxw10	G	A	11: 62,767,990 (GRCm39)	R942Q	possibly damaging	Het
Flvcr2	T	G	12: 85,793,965 (GRCm39)	F114V	probably damaging	Het
Gm14443	A	T	2: 175,011,796 (GRCm39)	C217S	probably damaging	Het
Gphb5	A	T	12: 75,459,746 (GRCm39)	V83E	possibly damaging	Het
Gpsm1	T	C	2: 26,214,045 (GRCm39)		probably null	Het
Grik4	A	G	9: 42,582,544 (GRCm39)	F134S	probably benign	Het
Ibsp	G	A	5: 104,458,335 (GRCm39)	E291K	possibly damaging	Het
Igfals	T	G	17: 25,099,290 (GRCm39)	L127R	probably damaging	Het
Igsf9b	CGGCCCCGGCCCAG	CGGCCCCGGCCCAGGCCCCGGCCCAG	9: 27,245,572 (GRCm39)		probably benign	Het
Iqcf3	T	A	9: 106,431,413 (GRCm39)	D63V	probably damaging	Het
Klc4	A	G	17: 46,942,957 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk8ip2	C	A	15: 89,341,642 (GRCm39)	D284E	probably benign	Het
Muc5b	A	T	7: 141,411,781 (GRCm39)	T1576S	unknown	Het
Nlrp3	G	A	11: 59,439,889 (GRCm39)	G489S	probably damaging	Het
Nr5a1	T	A	2: 38,598,098 (GRCm39)	Q233L	possibly damaging	Het
Nusap1	G	A	2: 119,477,624 (GRCm39)	V345I	probably damaging	Het
Or10q1	A	G	19: 13,727,217 (GRCm39)	H249R	probably benign	Het
Or4k51	A	G	2: 111,585,265 (GRCm39)	T224A	possibly damaging	Het
Or51aa2	A	T	7: 103,187,970 (GRCm39)	V157E	possibly damaging	Het
Oxr1	A	G	15: 41,683,767 (GRCm39)	T378A	probably benign	Het
Pcdhb12	T	C	18: 37,569,087 (GRCm39)	F78L	probably benign	Het
Pgm2l1	A	T	7: 99,921,583 (GRCm39)	I605L	probably benign	Het
Prss39	A	G	1: 34,539,209 (GRCm39)	S150G	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scg3	T	A	9: 75,576,538 (GRCm39)	Y279F	probably benign	Het
Skic2	C	T	17: 35,065,574 (GRCm39)	V327I	probably damaging	Het
Srfbp1	T	C	18: 52,621,697 (GRCm39)	C253R	probably benign	Het
Tcirg1	C	T	19: 3,953,509 (GRCm39)		probably null	Het
Trim37	A	G	11: 87,057,505 (GRCm39)	Y313C	probably damaging	Het
Ttll9	A	T	2: 152,844,912 (GRCm39)	M427L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp5	A	G	7: 55,475,409 (GRCm39)	R932G	possibly damaging	Het

Other mutations in Pik3c2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Pik3c2g	APN	6	139,841,851 (GRCm39)	missense	probably damaging	1.00
IGL01355:Pik3c2g	APN	6	139,798,583 (GRCm39)	missense	probably damaging	0.98
IGL01579:Pik3c2g	APN	6	139,700,467 (GRCm39)	nonsense	probably null
IGL01580:Pik3c2g	APN	6	139,599,514 (GRCm39)	missense	probably damaging	0.99
IGL01587:Pik3c2g	APN	6	139,700,467 (GRCm39)	nonsense	probably null
IGL01813:Pik3c2g	APN	6	139,599,407 (GRCm39)	missense	possibly damaging	0.55
IGL02218:Pik3c2g	APN	6	139,806,081 (GRCm39)	missense	probably damaging	1.00
IGL02479:Pik3c2g	APN	6	139,863,730 (GRCm39)	missense	probably benign	0.40
IGL02480:Pik3c2g	APN	6	139,798,526 (GRCm39)	missense	probably damaging	1.00
IGL02721:Pik3c2g	APN	6	139,682,699 (GRCm39)	missense	probably benign	0.15
IGL02967:Pik3c2g	APN	6	139,913,554 (GRCm39)	missense	probably damaging	0.98
IGL03221:Pik3c2g	APN	6	139,718,133 (GRCm39)	critical splice acceptor site	probably null
FR4304:Pik3c2g	UTSW	6	139,612,654 (GRCm39)	frame shift	probably null
FR4340:Pik3c2g	UTSW	6	139,612,654 (GRCm39)	frame shift	probably null
FR4976:Pik3c2g	UTSW	6	139,612,652 (GRCm39)	frame shift	probably null
IGL02837:Pik3c2g	UTSW	6	139,603,562 (GRCm39)	nonsense	probably null
PIT4531001:Pik3c2g	UTSW	6	139,805,096 (GRCm39)	missense
R0002:Pik3c2g	UTSW	6	139,714,471 (GRCm39)	missense	probably benign	0.08
R0081:Pik3c2g	UTSW	6	139,903,519 (GRCm39)	missense	probably benign	0.05
R0098:Pik3c2g	UTSW	6	139,639,441 (GRCm39)	missense	unknown
R0719:Pik3c2g	UTSW	6	139,606,723 (GRCm39)	missense	probably damaging	1.00
R0740:Pik3c2g	UTSW	6	139,610,791 (GRCm39)	critical splice donor site	probably null
R0837:Pik3c2g	UTSW	6	139,903,425 (GRCm39)	splice site	probably benign
R0840:Pik3c2g	UTSW	6	139,841,798 (GRCm39)	missense	probably damaging	1.00
R1306:Pik3c2g	UTSW	6	139,718,154 (GRCm39)	missense	probably benign
R1501:Pik3c2g	UTSW	6	139,789,796 (GRCm39)	critical splice donor site	probably null
R1591:Pik3c2g	UTSW	6	139,693,904 (GRCm39)	missense	probably benign	0.00
R1666:Pik3c2g	UTSW	6	139,612,634 (GRCm39)	intron	probably benign
R1907:Pik3c2g	UTSW	6	139,789,768 (GRCm39)	missense	probably damaging	1.00
R1970:Pik3c2g	UTSW	6	139,846,112 (GRCm39)	critical splice donor site	probably null
R1982:Pik3c2g	UTSW	6	139,599,546 (GRCm39)	missense	probably damaging	0.97
R2171:Pik3c2g	UTSW	6	139,801,012 (GRCm39)	nonsense	probably null
R2188:Pik3c2g	UTSW	6	139,798,600 (GRCm39)	missense	probably damaging	1.00
R3777:Pik3c2g	UTSW	6	139,599,385 (GRCm39)	missense	probably damaging	1.00
R3778:Pik3c2g	UTSW	6	139,599,385 (GRCm39)	missense	probably damaging	1.00
R3965:Pik3c2g	UTSW	6	139,801,018 (GRCm39)	missense	possibly damaging	0.90
R4076:Pik3c2g	UTSW	6	139,798,589 (GRCm39)	missense	probably damaging	1.00
R4078:Pik3c2g	UTSW	6	139,612,608 (GRCm39)	intron	probably benign
R4108:Pik3c2g	UTSW	6	139,676,096 (GRCm39)	missense	probably benign	0.00
R4461:Pik3c2g	UTSW	6	139,787,407 (GRCm39)	intron	probably benign
R4474:Pik3c2g	UTSW	6	139,610,749 (GRCm39)	missense	probably damaging	0.99
R4509:Pik3c2g	UTSW	6	139,665,732 (GRCm39)	missense	probably benign	0.25
R4646:Pik3c2g	UTSW	6	139,665,744 (GRCm39)	missense	probably benign	0.05
R4732:Pik3c2g	UTSW	6	139,881,711 (GRCm39)	missense	probably benign	0.28
R4733:Pik3c2g	UTSW	6	139,881,711 (GRCm39)	missense	probably benign	0.28
R4854:Pik3c2g	UTSW	6	139,714,505 (GRCm39)	missense	probably damaging	1.00
R4928:Pik3c2g	UTSW	6	139,913,528 (GRCm39)	missense	possibly damaging	0.88
R4959:Pik3c2g	UTSW	6	139,789,657 (GRCm39)	missense	possibly damaging	0.65
R4973:Pik3c2g	UTSW	6	139,789,657 (GRCm39)	missense	possibly damaging	0.65
R5032:Pik3c2g	UTSW	6	139,841,928 (GRCm39)	missense	probably benign	0.00
R5071:Pik3c2g	UTSW	6	139,665,873 (GRCm39)	missense	probably null	0.00
R5072:Pik3c2g	UTSW	6	139,665,873 (GRCm39)	missense	probably null	0.00
R5073:Pik3c2g	UTSW	6	139,665,873 (GRCm39)	missense	probably null	0.00
R5074:Pik3c2g	UTSW	6	139,665,873 (GRCm39)	missense	probably null	0.00
R5107:Pik3c2g	UTSW	6	139,612,623 (GRCm39)	intron	probably benign
R5186:Pik3c2g	UTSW	6	139,599,016 (GRCm39)	missense	probably damaging	1.00
R5253:Pik3c2g	UTSW	6	139,841,983 (GRCm39)	critical splice donor site	probably null
R5359:Pik3c2g	UTSW	6	139,599,121 (GRCm39)	missense	probably damaging	1.00
R5394:Pik3c2g	UTSW	6	139,665,808 (GRCm39)	missense	probably benign
R5435:Pik3c2g	UTSW	6	139,661,581 (GRCm39)	splice site	probably null
R5580:Pik3c2g	UTSW	6	139,603,531 (GRCm39)	missense	probably damaging	0.99
R5664:Pik3c2g	UTSW	6	139,682,733 (GRCm39)	missense	probably damaging	0.98
R5908:Pik3c2g	UTSW	6	139,714,436 (GRCm39)	missense
R5914:Pik3c2g	UTSW	6	139,599,477 (GRCm39)	missense	probably benign	0.00
R6046:Pik3c2g	UTSW	6	139,842,518 (GRCm39)	missense	probably damaging	1.00
R6046:Pik3c2g	UTSW	6	139,599,137 (GRCm39)	missense	probably damaging	0.96
R6298:Pik3c2g	UTSW	6	139,603,561 (GRCm39)	missense	probably damaging	1.00
R6382:Pik3c2g	UTSW	6	139,665,724 (GRCm39)	missense	possibly damaging	0.88
R6480:Pik3c2g	UTSW	6	139,676,195 (GRCm39)	missense	probably benign	0.27
R6917:Pik3c2g	UTSW	6	139,841,899 (GRCm39)	missense	probably benign	0.00
R6929:Pik3c2g	UTSW	6	139,903,502 (GRCm39)	missense	possibly damaging	0.67
R7022:Pik3c2g	UTSW	6	139,599,061 (GRCm39)	missense	possibly damaging	0.82
R7144:Pik3c2g	UTSW	6	139,606,868 (GRCm39)	missense	probably damaging	1.00
R7213:Pik3c2g	UTSW	6	139,805,990 (GRCm39)	missense
R7215:Pik3c2g	UTSW	6	139,700,589 (GRCm39)	missense
R7332:Pik3c2g	UTSW	6	139,841,981 (GRCm39)	missense
R7357:Pik3c2g	UTSW	6	139,610,791 (GRCm39)	critical splice donor site	probably null
R7359:Pik3c2g	UTSW	6	139,913,620 (GRCm39)	missense	unknown
R7385:Pik3c2g	UTSW	6	139,801,079 (GRCm39)	missense
R7455:Pik3c2g	UTSW	6	139,913,643 (GRCm39)	missense	unknown
R7651:Pik3c2g	UTSW	6	139,599,070 (GRCm39)	missense	possibly damaging	0.85
R7888:Pik3c2g	UTSW	6	139,842,470 (GRCm39)	missense
R7923:Pik3c2g	UTSW	6	139,610,791 (GRCm39)	critical splice donor site	probably null
R7964:Pik3c2g	UTSW	6	139,827,786 (GRCm39)	missense
R8005:Pik3c2g	UTSW	6	139,599,067 (GRCm39)	missense	probably benign	0.01
R8371:Pik3c2g	UTSW	6	139,881,782 (GRCm39)	missense	unknown
R8724:Pik3c2g	UTSW	6	139,913,619 (GRCm39)	missense	unknown
R8733:Pik3c2g	UTSW	6	139,714,426 (GRCm39)	nonsense	probably null
R8809:Pik3c2g	UTSW	6	139,714,436 (GRCm39)	missense
R8888:Pik3c2g	UTSW	6	139,676,092 (GRCm39)	nonsense	probably null
R8931:Pik3c2g	UTSW	6	139,821,093 (GRCm39)	missense	probably benign	0.02
R9188:Pik3c2g	UTSW	6	139,599,401 (GRCm39)	missense	possibly damaging	0.94
R9336:Pik3c2g	UTSW	6	139,821,161 (GRCm39)	missense
R9383:Pik3c2g	UTSW	6	139,827,742 (GRCm39)	nonsense	probably null
R9524:Pik3c2g	UTSW	6	139,606,768 (GRCm39)	missense	probably damaging	0.99
R9531:Pik3c2g	UTSW	6	139,841,926 (GRCm39)	missense
R9630:Pik3c2g	UTSW	6	139,599,237 (GRCm39)	missense	possibly damaging	0.66
R9697:Pik3c2g	UTSW	6	139,913,517 (GRCm39)	missense	unknown
R9708:Pik3c2g	UTSW	6	139,606,865 (GRCm39)	missense	probably benign
R9717:Pik3c2g	UTSW	6	139,841,910 (GRCm39)	missense
RF015:Pik3c2g	UTSW	6	139,700,497 (GRCm39)	missense
RF032:Pik3c2g	UTSW	6	139,612,656 (GRCm39)	frame shift	probably null
X0024:Pik3c2g	UTSW	6	139,805,984 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-09-01