Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03118:Pik3ca'

409880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3ca

Ensembl Gene

ENSMUSG00000027665

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Synonyms

caPI3K, 6330412C24Rik, p110alpha

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

32397671-32468486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32459935 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 857 (I857F)

Ref Sequence

ENSEMBL: ENSMUSP00000103878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029201] [ENSMUST00000108242] [ENSMUST00000108243]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029201
AA Change: I857F

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

SMART Domains

Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: I857F

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	3.03e-46	SMART
PI3K_rbd	173	292	5e-47	SMART
PI3K_C2	322	425	2.39e-35	SMART
C2	333	441	3.95e-1	SMART
PI3Ka	518	704	8.35e-99	SMART
Blast:PI3Kc	733	766	1e-11	BLAST
PI3Kc	798	1065	8.82e-130	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108242
AA Change: I735F

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

SMART Domains

Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: I735F

Domain	Start	End	E-Value	Type
PI3K_rbd	51	170	5e-47	SMART
PI3K_C2	200	303	2.39e-35	SMART
C2	211	319	3.95e-1	SMART
PI3Ka	396	582	8.35e-99	SMART
Blast:PI3Kc	611	644	1e-11	BLAST
PI3Kc	676	943	8.82e-130	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108243
AA Change: I857F

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

SMART Domains

Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: I857F

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	3.03e-46	SMART
PI3K_rbd	173	292	5e-47	SMART
PI3K_C2	322	425	2.39e-35	SMART
C2	333	441	3.95e-1	SMART
PI3Ka	518	704	8.35e-99	SMART
Blast:PI3Kc	733	766	1e-11	BLAST
PI3Kc	798	1065	8.82e-130	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195230

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Pik3ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Pik3ca	APN	3	32462584	missense	probably damaging	1.00
IGL01894:Pik3ca	APN	3	32450026	missense	possibly damaging	0.91
IGL03184:Pik3ca	APN	3	32439886	missense	probably benign	0.27
IGL03401:Pik3ca	APN	3	32437814	splice site	probably null
Peninsular	UTSW	3	32462821	missense	probably benign	0.38
R0084:Pik3ca	UTSW	3	32462788	missense	possibly damaging	0.78
R0116:Pik3ca	UTSW	3	32459945	missense	probably damaging	1.00
R0278:Pik3ca	UTSW	3	32439753	missense	possibly damaging	0.60
R0513:Pik3ca	UTSW	3	32461511	missense	probably damaging	1.00
R0543:Pik3ca	UTSW	3	32450261	critical splice acceptor site	probably null
R0622:Pik3ca	UTSW	3	32436552	missense	probably damaging	1.00
R0630:Pik3ca	UTSW	3	32450027	missense	possibly damaging	0.91
R1193:Pik3ca	UTSW	3	32456093	missense	probably damaging	0.99
R1292:Pik3ca	UTSW	3	32454420	missense	probably damaging	1.00
R1464:Pik3ca	UTSW	3	32461841	missense	probably damaging	1.00
R1464:Pik3ca	UTSW	3	32461841	missense	probably damaging	1.00
R1869:Pik3ca	UTSW	3	32450350	missense	probably damaging	0.99
R1962:Pik3ca	UTSW	3	32443867	missense	probably benign	0.27
R1969:Pik3ca	UTSW	3	32451754	critical splice acceptor site	probably null
R2006:Pik3ca	UTSW	3	32450057	missense	probably damaging	1.00
R2264:Pik3ca	UTSW	3	32437927	missense	possibly damaging	0.65
R2366:Pik3ca	UTSW	3	32462794	nonsense	probably null
R2680:Pik3ca	UTSW	3	32436548	nonsense	probably null
R2680:Pik3ca	UTSW	3	32443885	missense	probably benign	0.00
R3001:Pik3ca	UTSW	3	32462797	missense	probably damaging	1.00
R3002:Pik3ca	UTSW	3	32462797	missense	probably damaging	1.00
R4303:Pik3ca	UTSW	3	32439935	nonsense	probably null
R4416:Pik3ca	UTSW	3	32461530	missense	probably damaging	0.99
R4758:Pik3ca	UTSW	3	32437978	missense	probably benign	0.20
R4822:Pik3ca	UTSW	3	32437982	missense	probably benign	0.04
R4856:Pik3ca	UTSW	3	32437163	missense	probably damaging	1.00
R4886:Pik3ca	UTSW	3	32437163	missense	probably damaging	1.00
R5297:Pik3ca	UTSW	3	32450053	missense	probably damaging	1.00
R5636:Pik3ca	UTSW	3	32461560	missense	probably damaging	1.00
R5663:Pik3ca	UTSW	3	32462779	missense	probably damaging	1.00
R6249:Pik3ca	UTSW	3	32461563	missense	probably damaging	1.00
R6264:Pik3ca	UTSW	3	32440714	critical splice donor site	probably null
R6347:Pik3ca	UTSW	3	32462821	missense	probably benign	0.38
R6538:Pik3ca	UTSW	3	32439704	missense	probably damaging	1.00
R7020:Pik3ca	UTSW	3	32436279	missense	probably damaging	0.97
R7720:Pik3ca	UTSW	3	32436218	missense	probably damaging	1.00
R7864:Pik3ca	UTSW	3	32443613	nonsense	probably null
R8218:Pik3ca	UTSW	3	32437847	missense	possibly damaging	0.74
Z1177:Pik3ca	UTSW	3	32437967	missense	probably damaging	1.00

Posted On

2016-08-02