Mutagenetix > Incidental Mutation

Incidental Mutation 'R4822:Pik3ca'

371190

Institutional Source

Beutler Lab

Gene Symbol

Pik3ca

Ensembl Gene

ENSMUSG00000027665

Gene Name

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

Synonyms

6330412C24Rik, caPI3K, p110alpha

MMRRC Submission

042438-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32451203-32520256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32492131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 243 (V243A)

Ref Sequence

ENSEMBL: ENSMUSP00000103878 (fasta)

Gene Model

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

AlphaFold

P42337

Predicted Effect

probably benign
Transcript: ENSMUST00000029201
AA Change: V243A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: V243A

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: V121A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: V121A

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: V243A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: V243A

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

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Enpp1	A	T	10: 24,537,833 (GRCm39)	M384K	possibly damaging	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lipo2	A	T	19: 33,723,151 (GRCm39)	S213T	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Map4k5	A	T	12: 69,888,758 (GRCm39)	L224*	probably null	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mmel1	A	G	4: 154,972,354 (GRCm39)	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,966,618 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	probably benign	Het

Other mutations in Pik3ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Pik3ca	APN	3	32,516,733 (GRCm39)	missense	probably damaging	1.00
IGL01894:Pik3ca	APN	3	32,504,175 (GRCm39)	missense	possibly damaging	0.91
IGL03118:Pik3ca	APN	3	32,514,084 (GRCm39)	missense	probably damaging	1.00
IGL03184:Pik3ca	APN	3	32,494,035 (GRCm39)	missense	probably benign	0.27
IGL03401:Pik3ca	APN	3	32,491,963 (GRCm39)	splice site	probably null
Interrupted	UTSW	3	32,492,211 (GRCm39)	missense	probably damaging	1.00
Lilfella	UTSW	3	32,508,569 (GRCm39)	missense	probably damaging	1.00
Peninsular	UTSW	3	32,516,970 (GRCm39)	missense	probably benign	0.38
Severed	UTSW	3	32,492,076 (GRCm39)	missense	possibly damaging	0.65
R0084:Pik3ca	UTSW	3	32,516,937 (GRCm39)	missense	possibly damaging	0.78
R0116:Pik3ca	UTSW	3	32,514,094 (GRCm39)	missense	probably damaging	1.00
R0278:Pik3ca	UTSW	3	32,493,902 (GRCm39)	missense	possibly damaging	0.60
R0513:Pik3ca	UTSW	3	32,515,660 (GRCm39)	missense	probably damaging	1.00
R0543:Pik3ca	UTSW	3	32,504,410 (GRCm39)	critical splice acceptor site	probably null
R0622:Pik3ca	UTSW	3	32,490,701 (GRCm39)	missense	probably damaging	1.00
R0630:Pik3ca	UTSW	3	32,504,176 (GRCm39)	missense	possibly damaging	0.91
R1193:Pik3ca	UTSW	3	32,510,242 (GRCm39)	missense	probably damaging	0.99
R1292:Pik3ca	UTSW	3	32,508,569 (GRCm39)	missense	probably damaging	1.00
R1464:Pik3ca	UTSW	3	32,515,990 (GRCm39)	missense	probably damaging	1.00
R1464:Pik3ca	UTSW	3	32,515,990 (GRCm39)	missense	probably damaging	1.00
R1869:Pik3ca	UTSW	3	32,504,499 (GRCm39)	missense	probably damaging	0.99
R1962:Pik3ca	UTSW	3	32,498,016 (GRCm39)	missense	probably benign	0.27
R1969:Pik3ca	UTSW	3	32,505,903 (GRCm39)	critical splice acceptor site	probably null
R2006:Pik3ca	UTSW	3	32,504,206 (GRCm39)	missense	probably damaging	1.00
R2264:Pik3ca	UTSW	3	32,492,076 (GRCm39)	missense	possibly damaging	0.65
R2366:Pik3ca	UTSW	3	32,516,943 (GRCm39)	nonsense	probably null
R2680:Pik3ca	UTSW	3	32,498,034 (GRCm39)	missense	probably benign	0.00
R2680:Pik3ca	UTSW	3	32,490,697 (GRCm39)	nonsense	probably null
R3001:Pik3ca	UTSW	3	32,516,946 (GRCm39)	missense	probably damaging	1.00
R3002:Pik3ca	UTSW	3	32,516,946 (GRCm39)	missense	probably damaging	1.00
R4303:Pik3ca	UTSW	3	32,494,084 (GRCm39)	nonsense	probably null
R4416:Pik3ca	UTSW	3	32,515,679 (GRCm39)	missense	probably damaging	0.99
R4758:Pik3ca	UTSW	3	32,492,127 (GRCm39)	missense	probably benign	0.20
R4856:Pik3ca	UTSW	3	32,491,312 (GRCm39)	missense	probably damaging	1.00
R4886:Pik3ca	UTSW	3	32,491,312 (GRCm39)	missense	probably damaging	1.00
R5297:Pik3ca	UTSW	3	32,504,202 (GRCm39)	missense	probably damaging	1.00
R5636:Pik3ca	UTSW	3	32,515,709 (GRCm39)	missense	probably damaging	1.00
R5663:Pik3ca	UTSW	3	32,516,928 (GRCm39)	missense	probably damaging	1.00
R6249:Pik3ca	UTSW	3	32,515,712 (GRCm39)	missense	probably damaging	1.00
R6264:Pik3ca	UTSW	3	32,494,863 (GRCm39)	critical splice donor site	probably null
R6347:Pik3ca	UTSW	3	32,516,970 (GRCm39)	missense	probably benign	0.38
R6538:Pik3ca	UTSW	3	32,493,853 (GRCm39)	missense	probably damaging	1.00
R7020:Pik3ca	UTSW	3	32,490,428 (GRCm39)	missense	probably damaging	0.97
R7720:Pik3ca	UTSW	3	32,490,367 (GRCm39)	missense	probably damaging	1.00
R7864:Pik3ca	UTSW	3	32,497,762 (GRCm39)	nonsense	probably null
R8218:Pik3ca	UTSW	3	32,491,996 (GRCm39)	missense	possibly damaging	0.74
R8478:Pik3ca	UTSW	3	32,505,997 (GRCm39)	missense	probably benign
R9100:Pik3ca	UTSW	3	32,514,168 (GRCm39)	missense	probably damaging	1.00
R9169:Pik3ca	UTSW	3	32,503,755 (GRCm39)	critical splice donor site	probably null
R9255:Pik3ca	UTSW	3	32,496,981 (GRCm39)	critical splice donor site	probably null
R9267:Pik3ca	UTSW	3	32,492,211 (GRCm39)	missense	probably damaging	1.00
R9278:Pik3ca	UTSW	3	32,508,587 (GRCm39)	missense	probably damaging	1.00
R9501:Pik3ca	UTSW	3	32,504,062 (GRCm39)	missense	probably damaging	1.00
R9555:Pik3ca	UTSW	3	32,505,916 (GRCm39)	missense	probably damaging	1.00
Z1177:Pik3ca	UTSW	3	32,492,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTACAGGACAAATCATAGTGGTG -3'
(R):5'- AAGACTTGGCTGGCATTCAC -3'

Sequencing Primer
(F):5'- GATTTGGGTAATAGTCTCTCCAAAC -3'
(R):5'- AGACTTGGCTGGCATTCACTATCAG -3'

Posted On

2016-03-01