Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Pik3c2g'

515368

Institutional Source

Beutler Lab

Gene Symbol

Pik3c2g

Ensembl Gene

ENSMUSG00000030228

Gene Name

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

Synonyms

MMRRC Submission

044531-MU

Accession Numbers

Essential gene?

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

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139591070-139915010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139665724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 15 (E15G)

Ref Sequence

ENSEMBL: ENSMUSP00000107499 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111868
AA Change: E15G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: E15G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,418,850 (GRCm39)	M148K	probably benign	Het
Aldoc	T	C	11: 78,216,568 (GRCm39)	I242T	probably benign	Het
Camta2	T	C	11: 70,562,867 (GRCm39)	T927A	probably damaging	Het
Ccdc30	T	C	4: 119,261,363 (GRCm39)	R25G	possibly damaging	Het
Cdh16	T	A	8: 105,348,175 (GRCm39)	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,710,577 (GRCm39)		probably null	Het
Cnot6l	C	A	5: 96,276,858 (GRCm39)	R110L	probably damaging	Het
Col7a1	G	A	9: 108,804,461 (GRCm39)	S2264N	unknown	Het
Cspp1	A	G	1: 10,153,700 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,479,373 (GRCm39)	L213Q	probably damaging	Het
Cuta	T	C	17: 27,157,428 (GRCm39)	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,607,973 (GRCm39)	N200K	probably damaging	Het
Dag1	C	A	9: 108,085,336 (GRCm39)	A602S	possibly damaging	Het
Ftdc1	T	C	16: 58,434,273 (GRCm39)	E148G	possibly damaging	Het
Gm4707	G	A	17: 71,766,238 (GRCm39)		probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,342,724 (GRCm39)	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Hpse2	A	G	19: 43,376,641 (GRCm39)	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,827,196 (GRCm39)	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,951 (GRCm39)		probably null	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,657,672 (GRCm39)	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,348,814 (GRCm39)	Q62*	probably null	Het
Jakmip2	A	G	18: 43,704,244 (GRCm39)	S367P	possibly damaging	Het
Lrrc40	A	G	3: 157,764,333 (GRCm39)	D416G	probably damaging	Het
Mdm2	A	G	10: 117,528,626 (GRCm39)	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 74,169,375 (GRCm39)		probably null	Het
Myo1b	C	T	1: 51,813,466 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,048,859 (GRCm39)	D1799G	probably damaging	Het
Obscn	C	T	11: 58,890,239 (GRCm39)	G7431D	unknown	Het
Obscn	A	T	11: 58,933,034 (GRCm39)	C4781S	probably damaging	Het
Or2a14	T	A	6: 43,130,899 (GRCm39)	I220N	probably damaging	Het
Or7a35	C	A	10: 78,853,351 (GRCm39)	S65Y	probably damaging	Het
Pard3	T	A	8: 128,103,264 (GRCm39)	V411D	probably damaging	Het
Pfkl	T	C	10: 77,835,671 (GRCm39)	R246G	probably damaging	Het
Pgs1	T	C	11: 117,894,186 (GRCm39)	Y238H	probably damaging	Het
Pja2	A	G	17: 64,616,610 (GRCm39)	V95A	probably benign	Het
Ripor2	T	C	13: 24,861,828 (GRCm39)	I207T	possibly damaging	Het
Rps15	A	G	10: 80,129,820 (GRCm39)	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,051,484 (GRCm39)	E192*	probably null	Het
Slc23a4	T	A	6: 34,933,978 (GRCm39)	M42L	probably benign	Het
Snx25	T	A	8: 46,509,028 (GRCm39)	S373C	probably benign	Het
Sppl2a	A	T	2: 126,758,949 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,675 (GRCm39)	T45I	possibly damaging	Het
Tpcn2	A	G	7: 144,823,486 (GRCm39)	S256P	possibly damaging	Het
Txk	C	T	5: 72,893,823 (GRCm39)		probably benign	Het
Ubr2	C	G	17: 47,268,241 (GRCm39)	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,122,248 (GRCm39)	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,985,297 (GRCm39)	A35E	probably benign	Het
Ush2a	A	G	1: 188,546,499 (GRCm39)	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,530,345 (GRCm39)	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,664,426 (GRCm39)	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,243,813 (GRCm39)	N715D	probably benign	Het
Zfp933	T	C	4: 147,910,325 (GRCm39)	S424G	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
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
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
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'- TAGACAGATGATCCAGCCGC -3'
(R):5'- AGATTCTCGACTGCTCACCTG -3'

Sequencing Primer
(F):5'- TATGCCAAGCTGCCTCCG -3'
(R):5'- TGCCCAAGTCTCTGGGACATTG -3'

Posted On

2018-05-04