Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03184:Pik3ca'

412368

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 #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

32397671-32468486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32439886 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 332 (S332R)

Ref Sequence

ENSEMBL: ENSMUSP00000103878 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029201
AA Change: S332R

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: S332R

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 benign
Transcript: ENSMUST00000108242
AA Change: S210R

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: S210R

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 benign
Transcript: ENSMUST00000108243
AA Change: S332R

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: S332R

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,451	Y992H	possibly damaging	Het
Adcy7	T	A	8: 88,308,643	D58E	probably benign	Het
Aff2	G	A	X: 69,767,234	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,647,777	L1961M	probably damaging	Het
BC024978	A	G	7: 27,197,007		probably benign	Het
Brms1l	T	C	12: 55,868,277	*324Q	probably null	Het
Bub1b	T	C	2: 118,609,777		probably benign	Het
Cacna1b	A	G	2: 24,658,489		probably null	Het
Clrn1	T	A	3: 58,846,224	T239S	probably benign	Het
Clta	T	C	4: 44,025,514	Y145H	probably benign	Het
Coro6	T	C	11: 77,463,953	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,459,019	D314G	probably damaging	Het
Fn1	T	C	1: 71,609,497	N1418D	probably benign	Het
Fshr	A	C	17: 89,046,640	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,105,412	Q152R	probably damaging	Het
Gcnt2	A	G	13: 40,888,184	N273S	probably benign	Het
Gm11437	A	T	11: 84,156,264		probably benign	Het
Gm4559	A	G	7: 142,274,309	S19P	unknown	Het
Igsf8	T	G	1: 172,318,632	I462R	probably damaging	Het
Kirrel3	T	C	9: 35,007,756	F243S	probably damaging	Het
Krt80	C	T	15: 101,352,254	V37M	probably damaging	Het
Lama4	T	C	10: 39,078,843	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,292,529		probably benign	Het
Mtcl1	T	C	17: 66,354,214	N923S	probably benign	Het
Nectin2	G	A	7: 19,738,306	P53S	possibly damaging	Het
Nup98	G	A	7: 102,183,545	T335I	probably damaging	Het
Olfr1247	T	C	2: 89,609,568	D178G	probably damaging	Het
Olfr1391	C	A	11: 49,327,741	T110K	probably damaging	Het
Olfr1507	A	G	14: 52,490,923	S14P	probably benign	Het
Olfr643	T	A	7: 104,058,847	I252F	probably damaging	Het
Olfr822	T	C	10: 130,074,758	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,449,032	E397G	probably benign	Het
Pcgf5	T	G	19: 36,434,676		probably benign	Het
Pclo	C	T	5: 14,714,443	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,454,511	F226L	probably benign	Het
Plek	A	T	11: 16,981,887	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241	F333L	probably damaging	Het
Polk	T	C	13: 96,483,983	T570A	probably benign	Het
Rpgrip1l	G	A	8: 91,300,809	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,524,877	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,547,640	S197R	probably damaging	Het
Smg1	T	A	7: 118,180,380	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,274,668	D678G	probably benign	Het
Sorcs2	A	G	5: 36,031,212	S851P	probably benign	Het
Srcap	A	G	7: 127,530,502		probably benign	Het
Tbck	T	C	3: 132,736,103	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,118,886	S219P	probably damaging	Het
Trim9	T	C	12: 70,251,221	D570G	probably damaging	Het
Usp25	A	G	16: 77,081,653	Y655C	probably damaging	Het
Utrn	T	A	10: 12,710,166	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,527,872	I100F	probably benign	Het
Vps13a	A	T	19: 16,654,370	S2634T	probably benign	Het
Zfp472	T	A	17: 32,977,416	L155*	probably null	Het
Zfp808	A	G	13: 62,169,567	I43M	possibly damaging	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
IGL03118:Pik3ca	APN	3	32459935	missense	probably damaging	1.00
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
R7947:Pik3ca	UTSW	3	32443613	nonsense	probably null
Z1177:Pik3ca	UTSW	3	32437967	missense	not run

Posted On

2016-08-02