Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Pik3ca'

358293

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32451203-32520256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32492127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 242 (C242S)

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: C242S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: C242S

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: C120S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: C120S

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: C242S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: C242S

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,127,754 (GRCm39)	Y119N	probably damaging	Het
Actn2	T	A	13: 12,303,472 (GRCm39)	K443*	probably null	Het
Adgrb2	A	G	4: 129,903,143 (GRCm39)	N581S	probably damaging	Het
Afg2a	T	A	3: 37,487,385 (GRCm39)	S416T	probably benign	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Aox1	A	G	1: 58,371,741 (GRCm39)	I802V	probably benign	Het
Arhgap45	G	A	10: 79,866,127 (GRCm39)	G995E	probably benign	Het
Capn12	A	C	7: 28,592,148 (GRCm39)	T689P	possibly damaging	Het
Cars1	T	C	7: 143,125,304 (GRCm39)	S312G	probably benign	Het
Cast	T	A	13: 74,887,999 (GRCm39)	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,662,800 (GRCm39)	E72K	possibly damaging	Het
Cd300lg	G	T	11: 101,944,417 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,671,368 (GRCm39)		probably benign	Het
Chrna3	A	G	9: 54,929,560 (GRCm39)	Y93H	probably damaging	Het
Cic	A	G	7: 24,991,636 (GRCm39)	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,135,160 (GRCm39)	V526A	probably benign	Het
Clec4a1	G	T	6: 122,910,825 (GRCm39)	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,159 (GRCm39)	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527 (GRCm39)	C4F	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Decr2	C	A	17: 26,307,914 (GRCm39)	E46D	probably damaging	Het
Dlg1	G	A	16: 31,610,570 (GRCm39)	V284I	possibly damaging	Het
Dnah3	T	C	7: 119,678,629 (GRCm39)	E360G	probably benign	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Dnajc13	A	G	9: 104,049,773 (GRCm39)	F1783L	probably damaging	Het
Eps8l2	T	A	7: 140,940,286 (GRCm39)	D505E	probably damaging	Het
Eral1	G	A	11: 77,966,425 (GRCm39)	T251I	probably benign	Het
Eya3	T	C	4: 132,422,196 (GRCm39)		probably null	Het
Fam120a	G	A	13: 49,034,333 (GRCm39)	T1093I	probably benign	Het
Fbn2	C	T	18: 58,159,458 (GRCm39)	A2424T	probably benign	Het
Git2	G	A	5: 114,868,412 (GRCm39)	T256M	probably damaging	Het
Gm9805	A	T	17: 22,689,871 (GRCm38)	Y34F	probably benign	Het
Itgb7	T	G	15: 102,124,642 (GRCm39)	T792P	probably benign	Het
Jakmip1	T	A	5: 37,285,966 (GRCm39)	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,446,635 (GRCm39)	Y677H	probably damaging	Het
Klhdc4	G	A	8: 122,524,783 (GRCm39)	P382S	probably benign	Het
Knl1	TCC	TC	2: 118,902,213 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,022,269 (GRCm39)	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,078,570 (GRCm39)	M1L	possibly damaging	Het
Lrrc37	A	G	11: 103,505,290 (GRCm39)	V2226A	possibly damaging	Het
Magi3	T	A	3: 103,922,637 (GRCm39)	D1360V	probably benign	Het
Mier2	C	A	10: 79,386,182 (GRCm39)	C23F	probably damaging	Het
Myo1h	C	T	5: 114,487,643 (GRCm39)	R616C	probably damaging	Het
Nars2	A	G	7: 96,622,735 (GRCm39)	D187G	probably damaging	Het
Nbea	T	C	3: 55,912,824 (GRCm39)	M988V	probably benign	Het
Nlrc5	C	A	8: 95,238,956 (GRCm39)	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,043 (GRCm39)	F177L	probably benign	Het
Oas1a	A	G	5: 121,045,401 (GRCm39)	F47L	probably damaging	Het
Oas1f	A	G	5: 120,985,545 (GRCm39)	E30G	probably damaging	Het
Obscn	A	T	11: 58,894,189 (GRCm39)	M6689K	unknown	Het
Obscn	A	T	11: 59,026,743 (GRCm39)	D153E	probably damaging	Het
Or52s6	A	C	7: 103,092,076 (GRCm39)	C85G	probably damaging	Het
Osmr	A	T	15: 6,882,036 (GRCm39)	I36K	probably benign	Het
Pcf11	A	T	7: 92,310,383 (GRCm39)	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,160,706 (GRCm39)	R886C	probably damaging	Het
Pikfyve	T	A	1: 65,311,674 (GRCm39)	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,369,316 (GRCm39)	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,169,652 (GRCm39)	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prdm10	A	T	9: 31,273,708 (GRCm39)	T985S	probably benign	Het
Proc	T	A	18: 32,256,863 (GRCm39)	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,517,320 (GRCm39)	T365M	probably damaging	Het
Rasa1	A	T	13: 85,382,567 (GRCm39)	D446E	probably benign	Het
Ribc2	T	A	15: 85,025,867 (GRCm39)	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907 (GRCm39)	D385G	probably damaging	Het
Sdk2	A	G	11: 113,717,880 (GRCm39)	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,831,726 (GRCm39)		probably null	Het
Slc43a3	A	G	2: 84,774,869 (GRCm39)	N149S	probably damaging	Het
Specc1l	A	G	10: 75,082,182 (GRCm39)	Q543R	probably damaging	Het
Spef1	T	C	2: 131,014,661 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,969,966 (GRCm39)	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,080,370 (GRCm39)	V821A	probably benign	Het
Stac3	A	G	10: 127,339,214 (GRCm39)	M108V	possibly damaging	Het
Stradb	A	G	1: 59,027,730 (GRCm39)	T87A	probably benign	Het
Stxbp5l	A	T	16: 36,954,592 (GRCm39)	M906K	probably benign	Het
Tex14	T	C	11: 87,405,311 (GRCm39)	V741A	probably benign	Het
Thoc2l	A	C	5: 104,668,265 (GRCm39)	E929A	possibly damaging	Het
Tpo	C	A	12: 30,125,870 (GRCm39)	G830C	probably damaging	Het
Unc79	T	A	12: 103,128,080 (GRCm39)	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,777,016 (GRCm39)	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,314,473 (GRCm39)	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,208,596 (GRCm39)	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,801,867 (GRCm39)	Y302H	probably benign	Het
Xirp2	A	T	2: 67,346,879 (GRCm39)	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,209,758 (GRCm39)	G684W	probably damaging	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
R4822:Pik3ca	UTSW	3	32,492,131 (GRCm39)	missense	probably benign	0.04
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'- TGGTTACAGGACAAATCATAGTGG -3'
(R):5'- GTGGTACAAGACTTGGCTGG -3'

Sequencing Primer
(F):5'- AATCATAGTGGTGATTTGGGTAATAG -3'
(R):5'- ACAAGACTTGGCTGGCATTC -3'

Posted On

2015-11-11