Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02837:Pik3c2g'

391911

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 #

IGL02837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139591070-139915010 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 139603562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 249 (C249*)

Ref Sequence

ENSEMBL: ENSMUSP00000141141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032353] [ENSMUST00000185968] [ENSMUST00000187618] [ENSMUST00000188066] [ENSMUST00000190962]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032353
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228
AA Change: C249*

Domain	Start	End	E-Value	Type
SCOP:d1e8xa3	223	344	4e-33	SMART
Blast:PI3K_rbd	272	345	7e-44	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000185968
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228
AA Change: C249*

Domain	Start	End	E-Value	Type
SCOP:d1e8xa3	223	371	2e-42	SMART
Blast:PI3K_rbd	272	371	2e-64	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186585

Predicted Effect

probably null
Transcript: ENSMUST00000187618
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228
AA Change: C249*

Domain	Start	End	E-Value	Type
SCOP:d1e8xa3	223	344	4e-33	SMART
Blast:PI3K_rbd	272	345	7e-44	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000188066

Predicted Effect

probably null
Transcript: ENSMUST00000190962
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228
AA Change: C249*

Domain	Start	End	E-Value	Type
SCOP:d1e8xa3	223	344	4e-33	SMART
Blast:PI3K_rbd	272	345	7e-44	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (56/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,268,473 (GRCm39)	V786I	probably benign	Het
Adamts13	A	G	2: 26,881,432 (GRCm39)	N803S	probably benign	Het
Ago4	C	G	4: 126,391,093 (GRCm39)	G730R	possibly damaging	Het
Amn	T	A	12: 111,238,333 (GRCm39)	M55K	possibly damaging	Het
Apob	A	T	12: 8,055,102 (GRCm39)	Y1334F	probably damaging	Het
Arl14ep	A	C	2: 106,799,574 (GRCm39)	L89R	probably damaging	Het
Bcam	T	G	7: 19,498,111 (GRCm39)	E304A	probably damaging	Het
Car10	A	T	11: 93,488,077 (GRCm39)	Y258F	probably damaging	Het
Cerk	T	A	15: 86,028,896 (GRCm39)	K82*	probably null	Het
Chac2	T	C	11: 30,927,496 (GRCm39)	N141S	probably damaging	Het
Clpx	T	G	9: 65,231,541 (GRCm39)	L556R	probably damaging	Het
Csgalnact2	T	C	6: 118,101,364 (GRCm39)	I55V	probably benign	Het
Cul1	T	C	6: 47,500,139 (GRCm39)	V650A	probably benign	Het
Dnah5	A	T	15: 28,269,546 (GRCm39)	E895D	probably benign	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dpys	A	G	15: 39,720,701 (GRCm39)	S20P	probably damaging	Het
Fat1	G	A	8: 45,470,471 (GRCm39)	V1490I	probably benign	Het
Flg2	T	G	3: 93,109,044 (GRCm39)	C357W	probably damaging	Het
Flt1	T	A	5: 147,591,980 (GRCm39)	D494V	probably benign	Het
Fpr-rs4	T	A	17: 18,242,513 (GRCm39)	D173E	probably benign	Het
Gm2666	G	T	1: 85,412,824 (GRCm39)		noncoding transcript	Het
Gm3867	C	A	9: 36,169,096 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,374 (GRCm39)		noncoding transcript	Het
Kit	G	A	5: 75,799,668 (GRCm39)	V467I	probably benign	Het
Krtap4-16	A	G	11: 99,741,863 (GRCm39)	V179A	unknown	Het
Lrp8	C	A	4: 107,718,478 (GRCm39)	H693Q	probably benign	Het
Lrrc49	A	G	9: 60,517,605 (GRCm39)	S75P	probably benign	Het
Ltbp4	C	A	7: 27,013,806 (GRCm39)	V1068L	probably damaging	Het
Magel2	C	T	7: 62,028,008 (GRCm39)	P304L	possibly damaging	Het
Muc19	T	A	15: 91,766,850 (GRCm39)		noncoding transcript	Het
Npas3	T	C	12: 53,993,980 (GRCm39)	V175A	possibly damaging	Het
Nr1h4	A	T	10: 89,352,342 (GRCm39)	H8Q	probably benign	Het
Ntsr2	G	A	12: 16,703,876 (GRCm39)	V126M	probably damaging	Het
Odf2	A	T	2: 29,816,725 (GRCm39)	T725S	probably damaging	Het
Or52e19b	C	T	7: 103,032,822 (GRCm39)	C129Y	probably damaging	Het
Or5h17	C	T	16: 58,820,909 (GRCm39)	P287L	probably damaging	Het
Or9s13	T	C	1: 92,548,404 (GRCm39)	Y259H	possibly damaging	Het
Pgr	T	C	9: 8,946,639 (GRCm39)		probably benign	Het
Plcd3	C	T	11: 102,961,929 (GRCm39)	V726M	possibly damaging	Het
Prl8a1	A	G	13: 27,759,617 (GRCm39)	L140P	probably damaging	Het
Prpf6	C	A	2: 181,264,056 (GRCm39)	D239E	probably damaging	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Rimbp2	G	T	5: 128,874,809 (GRCm39)	Q268K	probably damaging	Het
Rps19-ps13	A	T	18: 40,859,447 (GRCm39)		noncoding transcript	Het
Sema4c	C	A	1: 36,591,965 (GRCm39)	G266V	probably damaging	Het
Sema4g	T	C	19: 44,985,150 (GRCm39)	F156S	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Speer4f1	G	T	5: 17,685,381 (GRCm39)	L225F	unknown	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 144,995,568 (GRCm39)	E497G	probably benign	Het
Trim3	T	C	7: 105,261,863 (GRCm39)	N631S	probably damaging	Het
Trim45	C	T	3: 100,838,943 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,949,731 (GRCm39)	D445G	probably benign	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
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
R5417:Pik3c2g	UTSW	6	139,682,669 (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

PCR Primer
(F):5'- GACAGATGCATACATTCCTGAAG -3'
(R):5'- AGCCAGCAAGGTGATCAATG -3'

Sequencing Primer
(F):5'- TGCATACATTCCTGAAGACTAAAATC -3'
(R):5'- CCAGCAAGGTGATCAATGATAGCTTG -3'

Posted On

2016-06-08