Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Pik3ca'

57809

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

038819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0630 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

32451203-32520256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32504176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 622 (Y622C)

Ref Sequence

ENSEMBL: ENSMUSP00000103878 (fasta)

Gene Model

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

AlphaFold

P42337

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029201
AA Change: Y622C

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: Y622C

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

possibly damaging
Transcript: ENSMUST00000108242
AA Change: Y500C

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: Y500C

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

possibly damaging
Transcript: ENSMUST00000108243
AA Change: Y622C

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: Y622C

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

Meta Mutation Damage Score

0.3881

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		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
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
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'- ACCCAAATTGCTTCTGTCTGTCAAGT -3'
(R):5'- TCAGGTCCATTTCTCTATGGCTGAACT -3'

Sequencing Primer
(F):5'- AGAGACTCTTGTGCAGTACCC -3'
(R):5'- CCATTTCTCTATGGCTGAACTTAAAG -3'

Posted On

2013-07-11