Mutagenetix > Incidental Mutation

Incidental Mutation 'R7375:Pik3c2a'

572335

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

045458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7375 (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 115975621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 649 (T649A)

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: T649A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: T649A

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: T649A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1823

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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
Abcb4	A	G	5: 8,968,671 (GRCm39)	I337V	probably benign	Het
Abl2	A	G	1: 156,450,184 (GRCm39)	D117G	probably damaging	Het
Arhgap5	T	A	12: 52,563,365 (GRCm39)	L112*	probably null	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Ccdc168	A	T	1: 44,099,694 (GRCm39)	I468N	possibly damaging	Het
Cfap91	T	A	16: 38,155,980 (GRCm39)	H81L	probably damaging	Het
Cmya5	T	G	13: 93,228,169 (GRCm39)	K2306N	probably damaging	Het
Col16a1	A	C	4: 129,959,294 (GRCm39)	K680T	unknown	Het
Col28a1	T	A	6: 7,998,499 (GRCm39)	T1137S	possibly damaging	Het
Crnn	A	T	3: 93,056,452 (GRCm39)	T413S	possibly damaging	Het
Csf1	A	G	3: 107,655,495 (GRCm39)	L512P	possibly damaging	Het
Dlx3	C	A	11: 95,011,461 (GRCm39)	A105D	possibly damaging	Het
Dnah3	T	G	7: 119,550,900 (GRCm39)	T161P	probably damaging	Het
Dnah7b	A	G	1: 46,342,794 (GRCm39)	D3435G	probably damaging	Het
Dpp10	A	G	1: 123,295,524 (GRCm39)	I541T	probably benign	Het
Efcc1	T	C	6: 87,728,838 (GRCm39)	V431A	possibly damaging	Het
Enpp5	T	C	17: 44,391,868 (GRCm39)	I99T	probably benign	Het
Gm11232	C	T	4: 71,675,583 (GRCm39)	W59*	probably null	Het
Gxylt2	A	T	6: 100,727,383 (GRCm39)	T166S	probably benign	Het
Herc6	A	T	6: 57,628,791 (GRCm39)		probably null	Het
Itga2	T	C	13: 115,005,753 (GRCm39)	I476V	probably benign	Het
Kcnq5	T	C	1: 21,539,710 (GRCm39)	T403A	possibly damaging	Het
Klhl42	A	G	6: 146,993,538 (GRCm39)	K170R	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Krt32	G	T	11: 99,972,050 (GRCm39)	R433S	probably benign	Het
Lrp1	G	T	10: 127,375,217 (GRCm39)	T4461N	probably damaging	Het
Mapk10	A	T	5: 103,124,256 (GRCm39)	M256K	probably null	Het
Mogat2	T	C	7: 98,872,905 (GRCm39)	K93R	probably damaging	Het
Myh1	G	T	11: 67,101,254 (GRCm39)	V677L	probably damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Oog4	G	A	4: 143,165,544 (GRCm39)	T201M	possibly damaging	Het
Or4a70	C	T	2: 89,324,036 (GRCm39)	G207R	possibly damaging	Het
Plec	T	A	15: 76,061,555 (GRCm39)	H2794L	possibly damaging	Het
Pros1	T	A	16: 62,744,913 (GRCm39)	N509K	probably damaging	Het
Psme3ip1	G	A	8: 95,309,636 (GRCm39)	L119F	probably benign	Het
Psme4	T	A	11: 30,722,700 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Rad50	A	G	11: 53,543,055 (GRCm39)		probably null	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Scpppq1	G	T	5: 104,219,123 (GRCm39)		probably null	Het
Sdk1	G	T	5: 141,984,598 (GRCm39)	V728L	probably benign	Het
Sfxn4	T	C	19: 60,847,112 (GRCm39)	D57G	probably benign	Het
Slc10a4	A	G	5: 73,169,650 (GRCm39)	D425G	probably benign	Het
Slc17a5	C	T	9: 78,495,174 (GRCm39)	A26T	probably benign	Het
Slc22a26	A	T	19: 7,760,509 (GRCm39)		probably null	Het
Slc22a30	A	G	19: 8,382,055 (GRCm39)	L72P	probably damaging	Het
Slco6c1	T	C	1: 97,009,146 (GRCm39)	T447A	possibly damaging	Het
Slco6d1	A	G	1: 98,349,172 (GRCm39)	N81S	probably damaging	Het
Stard9	T	C	2: 120,495,483 (GRCm39)		probably null	Het
Tecpr1	T	C	5: 144,145,417 (GRCm39)	E610G	possibly damaging	Het
Tmem81	G	T	1: 132,435,301 (GRCm39)	V36L	possibly damaging	Het
Trabd2b	G	T	4: 114,467,194 (GRCm39)	K474N	probably benign	Het
Tspan33	T	C	6: 29,713,519 (GRCm39)	F149L	probably benign	Het
Ttn	A	G	2: 76,606,683 (GRCm39)	Y18076H	probably damaging	Het
Utrn	G	A	10: 12,516,764 (GRCm39)	R2277C	probably damaging	Het
Vmn2r101	T	A	17: 19,831,652 (GRCm39)	D549E	probably damaging	Het
Vmn2r107	T	A	17: 20,576,138 (GRCm39)	I156K	probably benign	Het
Wwc2	T	G	8: 48,316,955 (GRCm39)	S713R	unknown	Het
Xndc1	C	A	7: 101,730,687 (GRCm39)		probably null	Het
Zfp810	A	G	9: 22,201,833 (GRCm39)		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
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
R7539:Pik3c2a	UTSW	7	115,939,331 (GRCm39)	missense	probably damaging	0.97
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'- ACTAACACTAAGTGTAACTTGTGGG -3'
(R):5'- TACAGGTGACTTCATTATCTGGAAG -3'

Sequencing Primer
(F):5'- TGGATGTCCTTTAAGCAGCTAC -3'
(R):5'- GTGACTTCATTATCTGGAAGTGACAC -3'

Posted On

2019-09-13