Mutagenetix > Incidental Mutation

Incidental Mutation 'R7539:Pik3c2a'

583787

Institutional Source

Beutler Lab

Gene Symbol

Pik3c2a

Ensembl Gene

ENSMUSG00000030660

Gene Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Synonyms

PI3KC2

MMRRC Submission

045611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115936500-116042684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115939331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1669 (N1669S)

Ref Sequence

ENSEMBL: ENSMUSP00000126092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000206219]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000170430
AA Change: N1669S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: N1669S

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	361	372	N/A	INTRINSIC
PI3K_rbd	410	513	3.08e-38	SMART
PI3K_C2	674	783	2.71e-34	SMART
PI3Ka	860	1047	3.62e-85	SMART
PI3Kc	1134	1396	3.1e-125	SMART
PX	1422	1534	5.68e-30	SMART
C2	1573	1677	3.93e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206219
AA Change: N1669S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000206385

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Abcf3	T	C	16: 20,371,382 (GRCm39)		probably null	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ap5m1	C	A	14: 49,311,014 (GRCm39)	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,434,457 (GRCm39)	D83G	probably benign	Het
Birc6	T	C	17: 74,956,691 (GRCm39)	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,975,203 (GRCm39)	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 44,915,445 (GRCm39)	E67V	probably benign	Het
Cep112	A	G	11: 108,746,654 (GRCm39)	M133V	probably benign	Het
Ckmt2	C	A	13: 92,008,063 (GRCm39)	D224Y	probably damaging	Het
Cplane1	A	G	15: 8,230,728 (GRCm39)	I1002V	probably benign	Het
Crb1	T	G	1: 139,175,967 (GRCm39)	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,370,119 (GRCm39)	S4515P	probably damaging	Het
Dock9	A	G	14: 121,818,848 (GRCm39)	S1545P	probably damaging	Het
Dop1a	T	G	9: 86,403,626 (GRCm39)	S145A	probably benign	Het
Eps8l1	T	C	7: 4,473,036 (GRCm39)	S92P	probably damaging	Het
Faap100	T	C	11: 120,268,464 (GRCm39)	D103G	possibly damaging	Het
Fech	T	A	18: 64,616,565 (GRCm39)		probably null	Het
Folh1	T	A	7: 86,375,117 (GRCm39)	E623V	probably benign	Het
Galnt5	T	C	2: 57,925,242 (GRCm39)	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10577	C	T	4: 100,877,893 (GRCm39)	V1I	unknown	Het
Grip1	T	A	10: 119,890,776 (GRCm39)	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,191,586 (GRCm39)	A955V	probably damaging	Het
Hpd	G	C	5: 123,316,255 (GRCm39)	Y165*	probably null	Het
Iqsec1	C	A	6: 90,639,873 (GRCm39)	R955L	probably benign	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,576,770 (GRCm39)	T20M		Het
Myo16	T	C	8: 10,411,095 (GRCm39)		probably null	Het
Nfkb2	T	C	19: 46,296,662 (GRCm39)	F273L	possibly damaging	Het
Nherf2	G	T	17: 24,860,873 (GRCm39)	A223D	probably damaging	Het
Or11l3	A	T	11: 58,516,782 (GRCm39)	I29N	probably damaging	Het
Or1l8	T	C	2: 36,817,221 (GRCm39)	R302G	probably benign	Het
Or2a56	T	C	6: 42,933,037 (GRCm39)	C202R	possibly damaging	Het
Or4k49	T	C	2: 111,494,778 (GRCm39)	V69A	possibly damaging	Het
Or52ab7	A	G	7: 102,977,701 (GRCm39)	S3G	probably benign	Het
Or52e3	T	C	7: 102,869,273 (GRCm39)	V116A	possibly damaging	Het
Or5b124	C	T	19: 13,610,933 (GRCm39)	Q153*	probably null	Het
Or6c2	A	T	10: 129,362,974 (GRCm39)	K293*	probably null	Het
Or6c69	T	C	10: 129,747,932 (GRCm39)	T72A	probably damaging	Het
Or7e174	A	T	9: 20,012,915 (GRCm39)	M287L	probably benign	Het
Parp4	T	A	14: 56,873,212 (GRCm39)	I1152N	probably damaging	Het
Peg3	T	C	7: 6,711,167 (GRCm39)	T1352A	probably benign	Het
Pinx1	A	T	14: 64,156,655 (GRCm39)	Q194L	probably benign	Het
Podxl2	A	C	6: 88,826,311 (GRCm39)	S268A	probably benign	Het
Polr2c	C	A	8: 95,597,407 (GRCm39)	H363N	unknown	Het
Prlr	C	T	15: 10,329,109 (GRCm39)	T528I	probably benign	Het
Rab37	A	C	11: 115,051,487 (GRCm39)	Q198P	probably benign	Het
Rrm2b	T	A	15: 37,937,595 (GRCm39)		probably null	Het
Serpina3b	T	C	12: 104,096,970 (GRCm39)	S84P	possibly damaging	Het
Stat4	A	T	1: 52,110,868 (GRCm39)		probably null	Het
Them6	T	C	15: 74,595,349 (GRCm39)	I185T	probably damaging	Het
Tmco4	T	A	4: 138,749,010 (GRCm39)	M316K	probably benign	Het
Tmtc4	G	T	14: 123,215,701 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,667,668 (GRCm39)	N248K	probably benign	Het
Trim43a	T	A	9: 88,465,096 (GRCm39)	L141Q	probably benign	Het
Utp20	C	T	10: 88,627,607 (GRCm39)	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,899,853 (GRCm39)	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,197 (GRCm39)	I441N	unknown	Het
Wfikkn2	T	C	11: 94,133,185 (GRCm39)	D64G	probably damaging	Het
Zfp128	C	A	7: 12,624,479 (GRCm39)	Y282*	probably null	Het

Other mutations in Pik3c2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Pik3c2a	APN	7	115,975,518 (GRCm39)	missense	possibly damaging	0.50
IGL00732:Pik3c2a	APN	7	115,963,735 (GRCm39)	missense	possibly damaging	0.82
IGL01303:Pik3c2a	APN	7	115,973,038 (GRCm39)	missense	possibly damaging	0.94
IGL01443:Pik3c2a	APN	7	116,017,429 (GRCm39)	missense	probably benign	0.01
IGL01462:Pik3c2a	APN	7	115,975,485 (GRCm39)	missense	possibly damaging	0.94
IGL01641:Pik3c2a	APN	7	115,950,000 (GRCm39)	intron	probably benign
IGL01695:Pik3c2a	APN	7	116,016,753 (GRCm39)	missense	possibly damaging	0.82
IGL02095:Pik3c2a	APN	7	115,945,423 (GRCm39)	missense	probably damaging	1.00
IGL02137:Pik3c2a	APN	7	115,950,039 (GRCm39)	missense	probably benign	0.00
IGL02160:Pik3c2a	APN	7	115,987,299 (GRCm39)	missense	probably damaging	1.00
IGL02224:Pik3c2a	APN	7	115,962,575 (GRCm39)	splice site	probably benign
IGL02345:Pik3c2a	APN	7	116,005,126 (GRCm39)	missense	probably damaging	1.00
IGL02644:Pik3c2a	APN	7	115,972,049 (GRCm39)	missense	probably benign	0.00
IGL02756:Pik3c2a	APN	7	115,963,748 (GRCm39)	missense	probably benign	0.01
IGL03339:Pik3c2a	APN	7	116,017,256 (GRCm39)	missense	possibly damaging	0.57
IGL03412:Pik3c2a	APN	7	116,017,074 (GRCm39)	missense	probably benign	0.21
R0046:Pik3c2a	UTSW	7	115,953,307 (GRCm39)	missense	probably damaging	1.00
R0387:Pik3c2a	UTSW	7	115,972,979 (GRCm39)	missense	probably damaging	1.00
R0501:Pik3c2a	UTSW	7	115,953,290 (GRCm39)	missense	probably damaging	1.00
R0650:Pik3c2a	UTSW	7	115,945,482 (GRCm39)	splice site	probably benign
R0991:Pik3c2a	UTSW	7	115,961,280 (GRCm39)	critical splice donor site	probably null
R1074:Pik3c2a	UTSW	7	115,950,160 (GRCm39)	nonsense	probably null
R1485:Pik3c2a	UTSW	7	116,016,908 (GRCm39)	missense	possibly damaging	0.50
R1495:Pik3c2a	UTSW	7	115,987,300 (GRCm39)	missense	probably benign	0.01
R1510:Pik3c2a	UTSW	7	115,987,280 (GRCm39)	missense	probably benign	0.00
R1654:Pik3c2a	UTSW	7	115,968,083 (GRCm39)	missense	probably benign	0.02
R1711:Pik3c2a	UTSW	7	116,017,162 (GRCm39)	nonsense	probably null
R1733:Pik3c2a	UTSW	7	116,017,755 (GRCm39)	start codon destroyed	possibly damaging	0.96
R1751:Pik3c2a	UTSW	7	115,945,471 (GRCm39)	missense	probably damaging	0.98
R1812:Pik3c2a	UTSW	7	116,016,899 (GRCm39)	missense	probably damaging	0.98
R1817:Pik3c2a	UTSW	7	115,975,747 (GRCm39)	critical splice donor site	probably null
R1826:Pik3c2a	UTSW	7	115,967,352 (GRCm39)	missense	probably benign
R1875:Pik3c2a	UTSW	7	116,017,206 (GRCm39)	missense	probably benign	0.35
R1995:Pik3c2a	UTSW	7	115,953,241 (GRCm39)	missense	probably damaging	1.00
R2007:Pik3c2a	UTSW	7	115,941,472 (GRCm39)	missense	probably damaging	1.00
R2009:Pik3c2a	UTSW	7	115,963,738 (GRCm39)	missense	probably damaging	1.00
R2013:Pik3c2a	UTSW	7	115,950,166 (GRCm39)	critical splice acceptor site	probably null
R2014:Pik3c2a	UTSW	7	115,950,166 (GRCm39)	critical splice acceptor site	probably null
R2015:Pik3c2a	UTSW	7	115,950,166 (GRCm39)	critical splice acceptor site	probably null
R2027:Pik3c2a	UTSW	7	115,950,057 (GRCm39)	missense	probably damaging	1.00
R2050:Pik3c2a	UTSW	7	116,016,686 (GRCm39)	critical splice donor site	probably null
R2068:Pik3c2a	UTSW	7	115,972,126 (GRCm39)	nonsense	probably null
R3814:Pik3c2a	UTSW	7	115,947,414 (GRCm39)	missense	probably damaging	1.00
R3848:Pik3c2a	UTSW	7	115,963,785 (GRCm39)	nonsense	probably null
R4386:Pik3c2a	UTSW	7	115,953,334 (GRCm39)	missense	probably damaging	1.00
R4668:Pik3c2a	UTSW	7	115,957,923 (GRCm39)	missense	probably benign	0.16
R4783:Pik3c2a	UTSW	7	116,017,060 (GRCm39)	missense	probably damaging	1.00
R4860:Pik3c2a	UTSW	7	115,939,391 (GRCm39)	missense	probably damaging	1.00
R4860:Pik3c2a	UTSW	7	115,939,391 (GRCm39)	missense	probably damaging	1.00
R5057:Pik3c2a	UTSW	7	115,975,518 (GRCm39)	missense	possibly damaging	0.50
R5080:Pik3c2a	UTSW	7	115,947,509 (GRCm39)	missense	probably damaging	1.00
R5083:Pik3c2a	UTSW	7	115,941,636 (GRCm39)	missense	probably damaging	1.00
R5144:Pik3c2a	UTSW	7	115,950,021 (GRCm39)	missense	probably benign	0.01
R5589:Pik3c2a	UTSW	7	116,016,893 (GRCm39)	missense	probably benign	0.02
R5646:Pik3c2a	UTSW	7	116,005,186 (GRCm39)	missense	probably damaging	1.00
R5829:Pik3c2a	UTSW	7	115,972,049 (GRCm39)	missense	probably benign	0.00
R5951:Pik3c2a	UTSW	7	115,967,419 (GRCm39)	missense	probably damaging	0.96
R5958:Pik3c2a	UTSW	7	115,961,799 (GRCm39)	missense	probably damaging	1.00
R6356:Pik3c2a	UTSW	7	115,947,440 (GRCm39)	missense	possibly damaging	0.46
R6551:Pik3c2a	UTSW	7	116,016,731 (GRCm39)	missense	probably damaging	0.97
R6641:Pik3c2a	UTSW	7	115,939,460 (GRCm39)	critical splice acceptor site	probably null
R6661:Pik3c2a	UTSW	7	115,967,993 (GRCm39)	missense	possibly damaging	0.77
R6789:Pik3c2a	UTSW	7	115,961,419 (GRCm39)	missense	probably damaging	1.00
R6874:Pik3c2a	UTSW	7	115,993,540 (GRCm39)	missense	probably damaging	1.00
R6985:Pik3c2a	UTSW	7	116,017,223 (GRCm39)	missense	probably damaging	0.98
R7106:Pik3c2a	UTSW	7	116,017,368 (GRCm39)	nonsense	probably null
R7153:Pik3c2a	UTSW	7	115,941,487 (GRCm39)	missense	probably damaging	1.00
R7176:Pik3c2a	UTSW	7	115,987,331 (GRCm39)	missense	possibly damaging	0.47
R7265:Pik3c2a	UTSW	7	115,987,321 (GRCm39)	missense	probably damaging	1.00
R7303:Pik3c2a	UTSW	7	116,005,178 (GRCm39)	missense	probably benign	0.00
R7308:Pik3c2a	UTSW	7	115,973,074 (GRCm39)	missense	probably damaging	1.00
R7375:Pik3c2a	UTSW	7	115,975,621 (GRCm39)	missense	probably damaging	1.00
R7406:Pik3c2a	UTSW	7	115,953,242 (GRCm39)	missense	probably damaging	1.00
R7426:Pik3c2a	UTSW	7	115,972,089 (GRCm39)	missense	probably damaging	1.00
R7528:Pik3c2a	UTSW	7	115,993,474 (GRCm39)	missense	probably damaging	1.00
R7684:Pik3c2a	UTSW	7	115,987,312 (GRCm39)	nonsense	probably null
R7737:Pik3c2a	UTSW	7	115,955,488 (GRCm39)	missense	probably damaging	0.99
R7739:Pik3c2a	UTSW	7	115,993,529 (GRCm39)	missense	probably benign	0.26
R7852:Pik3c2a	UTSW	7	116,016,693 (GRCm39)	missense	probably benign
R7922:Pik3c2a	UTSW	7	115,990,517 (GRCm39)	missense	probably damaging	1.00
R7956:Pik3c2a	UTSW	7	115,949,350 (GRCm39)	missense	probably benign	0.01
R8005:Pik3c2a	UTSW	7	116,017,271 (GRCm39)	missense	probably damaging	1.00
R8158:Pik3c2a	UTSW	7	115,942,232 (GRCm39)	missense	probably benign	0.00
R8329:Pik3c2a	UTSW	7	116,017,283 (GRCm39)	missense	probably damaging	1.00
R8478:Pik3c2a	UTSW	7	116,017,584 (GRCm39)	missense	probably damaging	0.96
R8736:Pik3c2a	UTSW	7	115,975,464 (GRCm39)	missense	possibly damaging	0.47
R8812:Pik3c2a	UTSW	7	115,951,112 (GRCm39)	missense	probably damaging	1.00
R8922:Pik3c2a	UTSW	7	116,017,659 (GRCm39)	missense	probably damaging	1.00
R8953:Pik3c2a	UTSW	7	115,987,320 (GRCm39)	missense	probably benign	0.19
R9105:Pik3c2a	UTSW	7	115,972,049 (GRCm39)	missense	probably benign	0.00
R9111:Pik3c2a	UTSW	7	115,993,531 (GRCm39)	missense	probably damaging	0.99
R9152:Pik3c2a	UTSW	7	116,017,004 (GRCm39)	missense	probably benign	0.30
R9241:Pik3c2a	UTSW	7	116,017,115 (GRCm39)	missense	probably benign	0.02
R9301:Pik3c2a	UTSW	7	115,945,413 (GRCm39)	missense	probably damaging	1.00
R9325:Pik3c2a	UTSW	7	115,990,558 (GRCm39)	missense	probably damaging	0.99
R9482:Pik3c2a	UTSW	7	115,961,289 (GRCm39)	missense	probably benign	0.04
R9513:Pik3c2a	UTSW	7	115,939,321 (GRCm39)	missense	probably benign	0.06
R9569:Pik3c2a	UTSW	7	115,957,939 (GRCm39)	missense	possibly damaging	0.89
R9758:Pik3c2a	UTSW	7	115,945,427 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAGTTGGTCCAACATGTTAAG -3'
(R):5'- CAGTGCCATTCATTGCATCAC -3'

Sequencing Primer
(F):5'- GTTCCCAAGTGTGTGTATG -3'
(R):5'- CATTGCATCACTTTTTGACTGATG -3'

Posted On

2019-10-17