Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4531001:Pik3c2g'

556454

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: 0.087) question?

Stock #

PIT4531001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139587221-139969284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139859370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 543 (I543V)

Ref Sequence

ENSEMBL: ENSMUSP00000107499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087657] [ENSMUST00000111868] [ENSMUST00000218528]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087657
AA Change: I175V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: I175V

Domain	Start	End	E-Value	Type
PI3Kc	125	387	2.11e-109	SMART
PX	411	515	1.24e-21	SMART
C2	550	647	1.34e-7	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: I543V

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

Coding Region Coverage

1x: 93.0%
3x: 90.6%
10x: 84.3%
20x: 70.3%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	G	9: 59,310,317 (GRCm38)	D204E	probably damaging	Het
Aqr	C	A	2: 114,130,734 (GRCm38)	V682L	possibly damaging	Het
Bmper	A	T	9: 23,224,817 (GRCm38)	N65Y	possibly damaging	Het
Calb1	T	C	4: 15,900,925 (GRCm38)	L171P	probably damaging	Het
Card11	T	C	5: 140,906,660 (GRCm38)	M217V	probably damaging	Het
Col11a2	A	G	17: 34,046,438 (GRCm38)		probably null	Het
Dpm1	T	C	2: 168,210,552 (GRCm38)	T255A	probably benign	Het
Efhb	A	G	17: 53,445,775 (GRCm38)	Y440H	probably damaging	Het
Elp2	T	C	18: 24,604,113 (GRCm38)	V40A	probably damaging	Het
Fam103a1	C	T	7: 81,767,579 (GRCm38)	P9L	possibly damaging	Het
Far2	A	T	6: 148,175,131 (GRCm38)	N491Y	possibly damaging	Het
Frem1	T	A	4: 82,950,280 (GRCm38)	H1488L	probably benign	Het
Frrs1l	C	A	4: 56,990,144 (GRCm38)	R43L	unknown	Het
Galnt3	G	A	2: 66,107,088 (GRCm38)	R93C	probably benign	Het
Gm8225	A	G	17: 26,543,389 (GRCm38)	T185A	possibly damaging	Het
H2-Q1	A	T	17: 35,321,079 (GRCm38)	Q108L	probably damaging	Het
H2-Q1	T	C	17: 35,320,916 (GRCm38)	F54L	probably benign	Het
Hoxc12	T	G	15: 102,938,420 (GRCm38)	L249W	probably damaging	Het
Lrrc75b	A	T	10: 75,557,265 (GRCm38)	H83Q	probably damaging	Het
Muc4	A	T	16: 32,756,017 (GRCm38)	T1964S	unknown	Het
Nob1	T	C	8: 107,418,417 (GRCm38)	D142G	probably benign	Het
Olfr1155	A	G	2: 87,943,227 (GRCm38)	Y134H	probably damaging	Het
Olfr1180	A	T	2: 88,411,760 (GRCm38)	H299Q	probably benign	Het
Olfr1184	A	T	2: 88,487,257 (GRCm38)	Y175F	possibly damaging	Het
Olfr1389	T	C	11: 49,430,926 (GRCm38)	V150A	probably benign	Het
Olfr1449	G	A	19: 12,935,277 (GRCm38)	D180N	probably damaging	Het
Patj	A	T	4: 98,441,090 (GRCm38)	N527I	probably damaging	Het
Ppp1r2	A	T	16: 31,258,461 (GRCm38)	N150K	probably damaging	Het
Prl7d1	A	T	13: 27,710,178 (GRCm38)	L135Q	probably damaging	Het
Ralgds	G	T	2: 28,545,214 (GRCm38)	E461*	probably null	Het
Rasa3	T	A	8: 13,605,887 (GRCm38)	H116L	probably benign	Het
Sec24d	C	T	3: 123,343,178 (GRCm38)	P520L	probably damaging	Het
Sfmbt1	T	G	14: 30,796,326 (GRCm38)	S376A	probably benign	Het
Sspo	A	G	6: 48,481,239 (GRCm38)	T3290A	probably benign	Het
Stk25	G	A	1: 93,624,624 (GRCm38)	P345S	probably benign	Het
Sycp2l	A	G	13: 41,146,672 (GRCm38)	E454G	probably null	Het
Tecpr1	T	C	5: 144,214,067 (GRCm38)	K308E	probably damaging	Het
Thtpa	C	T	14: 55,095,505 (GRCm38)	P16S	probably damaging	Het
Trim65	T	A	11: 116,127,709 (GRCm38)	I247F	possibly damaging	Het
Trpc6	T	G	9: 8,610,148 (GRCm38)	Y206D	probably benign	Het
Ttn	G	A	2: 76,872,963 (GRCm38)	T9357I	unknown	Het
Ugt2b1	C	A	5: 86,926,483 (GRCm38)	A6S	probably benign	Het
Vmn1r175	A	G	7: 23,809,178 (GRCm38)	V8A	possibly damaging	Het
Vps13b	T	A	15: 35,878,825 (GRCm38)	I2990N	probably damaging	Het
Xirp2	G	A	2: 67,515,482 (GRCm38)	R2689Q	possibly damaging	Het
Zfp831	T	A	2: 174,646,723 (GRCm38)	Y1064N	possibly damaging	Het

Other mutations in Pik3c2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Pik3c2g	APN	6	139,896,125 (GRCm38)	missense	probably damaging	1.00
IGL01355:Pik3c2g	APN	6	139,852,857 (GRCm38)	missense	probably damaging	0.98
IGL01579:Pik3c2g	APN	6	139,754,741 (GRCm38)	nonsense	probably null
IGL01580:Pik3c2g	APN	6	139,622,516 (GRCm38)	missense	probably damaging	0.99
IGL01587:Pik3c2g	APN	6	139,754,741 (GRCm38)	nonsense	probably null
IGL01813:Pik3c2g	APN	6	139,622,409 (GRCm38)	missense	possibly damaging	0.55
IGL02218:Pik3c2g	APN	6	139,860,355 (GRCm38)	missense	probably damaging	1.00
IGL02479:Pik3c2g	APN	6	139,918,004 (GRCm38)	missense	probably benign	0.40
IGL02480:Pik3c2g	APN	6	139,852,800 (GRCm38)	missense	probably damaging	1.00
IGL02721:Pik3c2g	APN	6	139,736,973 (GRCm38)	missense	probably benign	0.15
IGL02967:Pik3c2g	APN	6	139,967,828 (GRCm38)	missense	probably damaging	0.98
IGL03221:Pik3c2g	APN	6	139,772,407 (GRCm38)	critical splice acceptor site	probably null
FR4304:Pik3c2g	UTSW	6	139,635,656 (GRCm38)	frame shift	probably null
FR4340:Pik3c2g	UTSW	6	139,635,656 (GRCm38)	frame shift	probably null
FR4976:Pik3c2g	UTSW	6	139,635,654 (GRCm38)	frame shift	probably null
IGL02837:Pik3c2g	UTSW	6	139,626,564 (GRCm38)	nonsense	probably null
R0002:Pik3c2g	UTSW	6	139,768,745 (GRCm38)	missense	probably benign	0.08
R0081:Pik3c2g	UTSW	6	139,957,793 (GRCm38)	missense	probably benign	0.05
R0098:Pik3c2g	UTSW	6	139,662,443 (GRCm38)	missense	unknown
R0719:Pik3c2g	UTSW	6	139,629,725 (GRCm38)	missense	probably damaging	1.00
R0740:Pik3c2g	UTSW	6	139,633,793 (GRCm38)	critical splice donor site	probably null
R0837:Pik3c2g	UTSW	6	139,957,699 (GRCm38)	splice site	probably benign
R0840:Pik3c2g	UTSW	6	139,896,072 (GRCm38)	missense	probably damaging	1.00
R1306:Pik3c2g	UTSW	6	139,772,428 (GRCm38)	missense	probably benign
R1501:Pik3c2g	UTSW	6	139,844,070 (GRCm38)	critical splice donor site	probably null
R1591:Pik3c2g	UTSW	6	139,748,178 (GRCm38)	missense	probably benign	0.00
R1666:Pik3c2g	UTSW	6	139,635,636 (GRCm38)	intron	probably benign
R1907:Pik3c2g	UTSW	6	139,844,042 (GRCm38)	missense	probably damaging	1.00
R1970:Pik3c2g	UTSW	6	139,900,386 (GRCm38)	critical splice donor site	probably null
R1982:Pik3c2g	UTSW	6	139,622,548 (GRCm38)	missense	probably damaging	0.97
R2171:Pik3c2g	UTSW	6	139,855,286 (GRCm38)	nonsense	probably null
R2188:Pik3c2g	UTSW	6	139,852,874 (GRCm38)	missense	probably damaging	1.00
R3777:Pik3c2g	UTSW	6	139,622,387 (GRCm38)	missense	probably damaging	1.00
R3778:Pik3c2g	UTSW	6	139,622,387 (GRCm38)	missense	probably damaging	1.00
R3965:Pik3c2g	UTSW	6	139,855,292 (GRCm38)	missense	possibly damaging	0.90
R4076:Pik3c2g	UTSW	6	139,852,863 (GRCm38)	missense	probably damaging	1.00
R4078:Pik3c2g	UTSW	6	139,635,610 (GRCm38)	intron	probably benign
R4108:Pik3c2g	UTSW	6	139,730,370 (GRCm38)	missense	probably benign	0.00
R4461:Pik3c2g	UTSW	6	139,841,681 (GRCm38)	intron	probably benign
R4474:Pik3c2g	UTSW	6	139,633,751 (GRCm38)	missense	probably damaging	0.99
R4509:Pik3c2g	UTSW	6	139,720,006 (GRCm38)	missense	probably benign	0.25
R4646:Pik3c2g	UTSW	6	139,720,018 (GRCm38)	missense	probably benign	0.05
R4732:Pik3c2g	UTSW	6	139,935,985 (GRCm38)	missense	probably benign	0.28
R4733:Pik3c2g	UTSW	6	139,935,985 (GRCm38)	missense	probably benign	0.28
R4854:Pik3c2g	UTSW	6	139,768,779 (GRCm38)	missense	probably damaging	1.00
R4928:Pik3c2g	UTSW	6	139,967,802 (GRCm38)	missense	possibly damaging	0.88
R4959:Pik3c2g	UTSW	6	139,843,931 (GRCm38)	missense	possibly damaging	0.65
R4973:Pik3c2g	UTSW	6	139,843,931 (GRCm38)	missense	possibly damaging	0.65
R5032:Pik3c2g	UTSW	6	139,896,202 (GRCm38)	missense	probably benign	0.00
R5071:Pik3c2g	UTSW	6	139,720,147 (GRCm38)	missense	probably null	0.00
R5072:Pik3c2g	UTSW	6	139,720,147 (GRCm38)	missense	probably null	0.00
R5073:Pik3c2g	UTSW	6	139,720,147 (GRCm38)	missense	probably null	0.00
R5074:Pik3c2g	UTSW	6	139,720,147 (GRCm38)	missense	probably null	0.00
R5107:Pik3c2g	UTSW	6	139,635,625 (GRCm38)	intron	probably benign
R5186:Pik3c2g	UTSW	6	139,622,018 (GRCm38)	missense	probably damaging	1.00
R5253:Pik3c2g	UTSW	6	139,896,257 (GRCm38)	critical splice donor site	probably null
R5359:Pik3c2g	UTSW	6	139,622,123 (GRCm38)	missense	probably damaging	1.00
R5394:Pik3c2g	UTSW	6	139,720,082 (GRCm38)	missense	probably benign
R5417:Pik3c2g	UTSW	6	139,736,943 (GRCm38)	missense	probably benign
R5435:Pik3c2g	UTSW	6	139,715,855 (GRCm38)	splice site	probably null
R5580:Pik3c2g	UTSW	6	139,626,533 (GRCm38)	missense	probably damaging	0.99
R5664:Pik3c2g	UTSW	6	139,737,007 (GRCm38)	missense	probably damaging	0.98
R5908:Pik3c2g	UTSW	6	139,768,710 (GRCm38)	missense
R5914:Pik3c2g	UTSW	6	139,622,479 (GRCm38)	missense	probably benign	0.00
R6046:Pik3c2g	UTSW	6	139,896,792 (GRCm38)	missense	probably damaging	1.00
R6046:Pik3c2g	UTSW	6	139,622,139 (GRCm38)	missense	probably damaging	0.96
R6298:Pik3c2g	UTSW	6	139,626,563 (GRCm38)	missense	probably damaging	1.00
R6382:Pik3c2g	UTSW	6	139,719,998 (GRCm38)	missense	possibly damaging	0.88
R6480:Pik3c2g	UTSW	6	139,730,469 (GRCm38)	missense	probably benign	0.27
R6917:Pik3c2g	UTSW	6	139,896,173 (GRCm38)	missense	probably benign	0.00
R6929:Pik3c2g	UTSW	6	139,957,776 (GRCm38)	missense	possibly damaging	0.67
R7022:Pik3c2g	UTSW	6	139,622,063 (GRCm38)	missense	possibly damaging	0.82
R7144:Pik3c2g	UTSW	6	139,629,870 (GRCm38)	missense	probably damaging	1.00
R7213:Pik3c2g	UTSW	6	139,860,264 (GRCm38)	missense
R7215:Pik3c2g	UTSW	6	139,754,863 (GRCm38)	missense
R7332:Pik3c2g	UTSW	6	139,896,255 (GRCm38)	missense
R7357:Pik3c2g	UTSW	6	139,633,793 (GRCm38)	critical splice donor site	probably null
R7359:Pik3c2g	UTSW	6	139,967,894 (GRCm38)	missense	unknown
R7385:Pik3c2g	UTSW	6	139,855,353 (GRCm38)	missense
R7455:Pik3c2g	UTSW	6	139,967,917 (GRCm38)	missense	unknown
R7651:Pik3c2g	UTSW	6	139,622,072 (GRCm38)	missense	possibly damaging	0.85
R7888:Pik3c2g	UTSW	6	139,896,744 (GRCm38)	missense
R7923:Pik3c2g	UTSW	6	139,633,793 (GRCm38)	critical splice donor site	probably null
R7964:Pik3c2g	UTSW	6	139,882,060 (GRCm38)	missense
R8005:Pik3c2g	UTSW	6	139,622,069 (GRCm38)	missense	probably benign	0.01
R8371:Pik3c2g	UTSW	6	139,936,056 (GRCm38)	missense	unknown
R8724:Pik3c2g	UTSW	6	139,967,893 (GRCm38)	missense	unknown
R8733:Pik3c2g	UTSW	6	139,768,700 (GRCm38)	nonsense	probably null
R8809:Pik3c2g	UTSW	6	139,768,710 (GRCm38)	missense
R8888:Pik3c2g	UTSW	6	139,730,366 (GRCm38)	nonsense	probably null
R8931:Pik3c2g	UTSW	6	139,875,367 (GRCm38)	missense	probably benign	0.02
R9188:Pik3c2g	UTSW	6	139,622,403 (GRCm38)	missense	possibly damaging	0.94
R9336:Pik3c2g	UTSW	6	139,875,435 (GRCm38)	missense
R9383:Pik3c2g	UTSW	6	139,882,016 (GRCm38)	nonsense	probably null
R9524:Pik3c2g	UTSW	6	139,629,770 (GRCm38)	missense	probably damaging	0.99
R9531:Pik3c2g	UTSW	6	139,896,200 (GRCm38)	missense
R9630:Pik3c2g	UTSW	6	139,622,239 (GRCm38)	missense	possibly damaging	0.66
R9697:Pik3c2g	UTSW	6	139,967,791 (GRCm38)	missense	unknown
R9708:Pik3c2g	UTSW	6	139,629,867 (GRCm38)	missense	probably benign
R9717:Pik3c2g	UTSW	6	139,896,184 (GRCm38)	missense
RF015:Pik3c2g	UTSW	6	139,754,771 (GRCm38)	missense
RF032:Pik3c2g	UTSW	6	139,635,658 (GRCm38)	frame shift	probably null
X0024:Pik3c2g	UTSW	6	139,860,258 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTAAGCTGCTTCTGATTGGTCTG -3'
(R):5'- AATATTCAACGGACCGGAGCAC -3'

Sequencing Primer
(F):5'- GCTTCTGATTGGTCTGATGAAAACC -3'
(R):5'- CGGACCGGAGCACATTCTTATTTAAC -3'

Posted On

2019-06-07