Mutagenetix > Incidental Mutation

Incidental Mutation 'R5359:Pik3c2g'

424235

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

042938-MU

Accession Numbers

Essential gene?

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

Stock #

R5359 (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 139599121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 79 (Y79C)

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 damaging
Transcript: ENSMUST00000032353
AA Change: Y79C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228
AA Change: Y79C

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: ENSMUST00000185968
AA Change: Y79C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228
AA Change: Y79C

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: Y79C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228
AA Change: Y79C

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: ENSMUST00000188066
AA Change: Y79C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190962
AA Change: Y79C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228
AA Change: Y79C

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5b1	T	A	19: 5,619,126 (GRCm39)	I182N	possibly damaging	Het
Arap2	A	T	5: 62,840,762 (GRCm39)	C701*	probably null	Het
Bcr	T	A	10: 75,001,917 (GRCm39)	F940L	probably damaging	Het
Cav2	A	T	6: 17,287,064 (GRCm39)		probably benign	Het
Cdk2	T	C	10: 128,539,857 (GRCm39)		probably benign	Het
Clic4	G	A	4: 134,944,446 (GRCm39)	A243V	probably benign	Het
Dap3	A	T	3: 88,838,296 (GRCm39)	V99D	probably damaging	Het
Dennd5a	T	C	7: 109,497,169 (GRCm39)	E1110G	probably damaging	Het
Dhx30	T	C	9: 109,922,203 (GRCm39)	N160D	probably damaging	Het
Dnai7	T	G	6: 145,142,618 (GRCm39)	T120P	probably damaging	Het
Dock9	A	G	14: 121,890,472 (GRCm39)	M268T	possibly damaging	Het
Dspp	T	A	5: 104,323,752 (GRCm39)	D298E	probably damaging	Het
Elane	A	G	10: 79,722,870 (GRCm39)	E92G	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gbf1	T	C	19: 46,272,164 (GRCm39)		probably null	Het
Gm1968	A	T	16: 29,777,617 (GRCm39)		noncoding transcript	Het
Hydin	T	A	8: 111,265,004 (GRCm39)	V2729E	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Iqgap1	T	C	7: 80,416,707 (GRCm39)	T106A	probably benign	Het
Kcnj6	G	C	16: 94,633,312 (GRCm39)	Y248*	probably null	Het
Mllt3	A	G	4: 87,759,164 (GRCm39)	S295P	probably benign	Het
Or2w1b	A	C	13: 21,300,437 (GRCm39)	T192P	probably damaging	Het
Pex11b	G	A	3: 96,551,229 (GRCm39)	C224Y	probably damaging	Het
Plcz1	T	C	6: 139,974,178 (GRCm39)	Y88C	probably damaging	Het
Pole	A	G	5: 110,480,354 (GRCm39)	N99S	probably benign	Het
Pyroxd1	T	G	6: 142,307,717 (GRCm39)	Y496D	probably damaging	Het
Rasef	A	G	4: 73,689,565 (GRCm39)	L68P	probably damaging	Het
Rgs13	T	A	1: 144,015,322 (GRCm39)	M132L	probably damaging	Het
RP24-187P11.4	T	G	9: 109,349,944 (GRCm39)		noncoding transcript	Het
Rsph4a	A	G	10: 33,784,232 (GRCm39)	T285A	probably benign	Het
Ryr3	A	T	2: 112,606,186 (GRCm39)		probably null	Het
Slc30a1	T	A	1: 191,641,865 (GRCm39)	*504R	probably null	Het
Spcs1	T	C	14: 30,722,074 (GRCm39)	R156G	probably damaging	Het
Supv3l1	A	G	10: 62,268,178 (GRCm39)	F556L	probably damaging	Het
Thumpd2	C	T	17: 81,334,206 (GRCm39)	V461M	probably benign	Het
Timm50	A	G	7: 28,007,592 (GRCm39)	L158P	probably damaging	Het
Tnrc6c	T	C	11: 117,649,731 (GRCm39)		silent	Het
Ttn	G	A	2: 76,726,147 (GRCm39)	Q1807*	probably null	Het
Zdhhc14	A	G	17: 5,543,821 (GRCm39)	I34V	probably benign	Het
Zgrf1	T	A	3: 127,394,814 (GRCm39)	M506K	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
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'- GCATACAGTTGGCAAACAGAGC -3'
(R):5'- TGCCATGATATTTTCCACTGGG -3'

Sequencing Primer
(F):5'- CACAGGAAGATGGATCTGATACCC -3'
(R):5'- TCCACTGGGATTTCTCCAGGAAG -3'

Posted On

2016-08-04