Mutagenetix > Incidental Mutation

Incidental Mutation 'R4474:Pik3c2g'

330486

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

041731-MU

Accession Numbers

Essential gene?

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

Stock #

R4474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139591070-139915010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139610749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 332 (Y332N)

Ref Sequence

ENSEMBL: ENSMUSP00000141141 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032353
AA Change: Y332N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228
AA Change: Y332N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185968
AA Change: Y332N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228
AA Change: Y332N

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 damaging
Transcript: ENSMUST00000187618
AA Change: Y332N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228
AA Change: Y332N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190962
AA Change: Y332N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228
AA Change: Y332N

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (36/38)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,124,598 (GRCm39)	I397K	possibly damaging	Het
Alpk1	T	C	3: 127,473,667 (GRCm39)	T779A	probably damaging	Het
Cdh23	G	T	10: 60,146,865 (GRCm39)	A2795D	probably damaging	Het
Cdk19	G	A	10: 40,345,952 (GRCm39)		probably null	Het
Cep104	T	A	4: 154,073,693 (GRCm39)	M476K	possibly damaging	Het
Csf1	T	C	3: 107,661,172 (GRCm39)	D115G	probably damaging	Het
Dclre1b	C	A	3: 103,714,559 (GRCm39)		probably benign	Het
Fbp1	A	G	13: 63,023,075 (GRCm39)	L74P	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hydin	G	T	8: 111,290,497 (GRCm39)	V3319L	probably benign	Het
Kcna4	A	G	2: 107,126,352 (GRCm39)	N362S	probably benign	Het
Kif13a	C	T	13: 46,967,631 (GRCm39)		probably null	Het
Lingo2	T	C	4: 35,708,810 (GRCm39)	E390G	probably benign	Het
Mdh1	T	G	11: 21,516,624 (GRCm39)	D33A	possibly damaging	Het
Mov10	C	T	3: 104,725,781 (GRCm39)	G21D	probably damaging	Het
Muc21	G	T	17: 35,931,496 (GRCm39)		probably benign	Het
Or4f56	G	A	2: 111,703,784 (GRCm39)	R139W	possibly damaging	Het
Or7g32	T	A	9: 19,408,173 (GRCm39)	L43Q	probably damaging	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Rab22a	C	T	2: 173,537,056 (GRCm39)	T85M	probably damaging	Het
Rims2	A	G	15: 39,325,956 (GRCm39)	S763G	probably damaging	Het
Sarm1	T	A	11: 78,387,927 (GRCm39)	I120L	probably benign	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Snx31	A	G	15: 36,546,256 (GRCm39)		probably benign	Het
Tmem150a	C	T	6: 72,334,035 (GRCm39)	S39F	probably benign	Het
Tsc2	T	A	17: 24,816,238 (GRCm39)	H1605L	probably damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Vmn2r95	T	C	17: 18,672,507 (GRCm39)	L820P	probably damaging	Het
Zfp36l3	T	C	X: 52,777,924 (GRCm39)	N97D	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
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'- AAGCAGCCTTTATCTAACATAGCC -3'
(R):5'- GCCACTCGAAAGCAGAATG -3'

Sequencing Primer
(F):5'- GGGCTAGCTGGCTACAATACTTC -3'
(R):5'- GCAGAATGAACGTAATGTTTGTG -3'

Posted On

2015-07-21