Incidental Mutation 'R9758:Pik3c2a'
ID 732855
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115945427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1460 (F1460L)
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: F1460L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: F1460L

DomainStartEndE-ValueType
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: F1460L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206385
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 113,879,799 (GRCm39) Y220C probably damaging Het
Actmap T C 7: 26,896,655 (GRCm39) S73P possibly damaging Het
Bmper G A 9: 23,286,902 (GRCm39) G276D possibly damaging Het
C2cd5 A T 6: 142,984,613 (GRCm39) M549K probably benign Het
Caprin1 A G 2: 103,606,283 (GRCm39) V319A possibly damaging Het
Cchcr1 G A 17: 35,839,285 (GRCm39) probably null Het
Cdc42bpb A T 12: 111,265,783 (GRCm39) V1383E possibly damaging Het
Cep350 T C 1: 155,770,433 (GRCm39) E1819G probably damaging Het
Ces4a A G 8: 105,869,054 (GRCm39) E163G possibly damaging Het
Chrnd C T 1: 87,118,792 (GRCm39) R50* probably null Het
Cntn3 A G 6: 102,183,511 (GRCm39) S715P probably damaging Het
Creb1 A T 1: 64,598,909 (GRCm39) R95S probably benign Het
Ctdp1 T C 18: 80,492,710 (GRCm39) Y595C probably damaging Het
Cts7 C T 13: 61,504,223 (GRCm39) E86K probably damaging Het
Dazap1 A G 10: 80,113,440 (GRCm39) N113S unknown Het
Dhdds T C 4: 133,727,706 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,554,938 (GRCm39) S998P probably damaging Het
Dnah1 T C 14: 30,985,395 (GRCm39) D3832G probably damaging Het
Drd1 A G 13: 54,207,182 (GRCm39) L344P probably damaging Het
Fam135b G A 15: 71,324,199 (GRCm39) T1256I probably benign Het
Fam234a A T 17: 26,432,627 (GRCm39) D507E probably benign Het
Fbxw16 A T 9: 109,278,169 (GRCm39) I3N probably benign Het
Foxd4 A T 19: 24,877,670 (GRCm39) W177R probably damaging Het
Fyb2 A G 4: 104,802,961 (GRCm39) S288G probably benign Het
Gadl1 A G 9: 115,789,519 (GRCm39) H275R probably benign Het
Gbp5 A G 3: 142,206,366 (GRCm39) T17A probably benign Het
Gm1110 A T 9: 26,800,894 (GRCm39) Y433* probably null Het
Gm6408 C A 5: 146,420,628 (GRCm39) D169E probably benign Het
Gramd2b T A 18: 56,611,972 (GRCm39) V145E probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hcn1 GCA GCAACA 13: 118,112,305 (GRCm39) probably benign Het
Hif1an G A 19: 44,558,378 (GRCm39) V293M probably damaging Het
Hyal3 A G 9: 107,462,347 (GRCm39) D127G probably damaging Het
Ighg1 T A 12: 113,293,252 (GRCm39) D146V possibly damaging Het
Iws1 T A 18: 32,216,347 (GRCm39) D362E probably damaging Het
Kif21b G A 1: 136,080,961 (GRCm39) E601K probably damaging Het
Kndc1 C A 7: 139,500,620 (GRCm39) P662T possibly damaging Het
Krtap13-1 C T 16: 88,526,229 (GRCm39) T151I probably benign Het
Ndufa10 A T 1: 92,379,752 (GRCm39) I327N probably benign Het
Or10ag53 A G 2: 87,082,439 (GRCm39) I53V possibly damaging Het
Or10z1 A G 1: 174,077,902 (GRCm39) L197P probably damaging Het
Pcdhb14 T C 18: 37,582,040 (GRCm39) V382A probably benign Het
Pex1 A T 5: 3,685,876 (GRCm39) I1206F probably damaging Het
Pi4k2b T A 5: 52,918,331 (GRCm39) D386E probably benign Het
Plcb2 A C 2: 118,545,921 (GRCm39) M588R probably damaging Het
Prl7d1 C A 13: 27,893,260 (GRCm39) R216L possibly damaging Het
Psg28 G T 7: 18,156,887 (GRCm39) Y449* probably null Het
Psg28 T A 7: 18,164,602 (GRCm39) T37S probably benign Het
Psmd9 G T 5: 123,372,745 (GRCm39) R76M probably damaging Het
Rfc1 T C 5: 65,459,391 (GRCm39) D189G probably benign Het
Rnf207 A G 4: 152,397,666 (GRCm39) S363P probably benign Het
Sco1 T A 11: 66,949,250 (GRCm39) D239E probably damaging Het
Sec24d C T 3: 123,136,803 (GRCm39) T512M probably damaging Het
Shkbp1 T C 7: 27,046,442 (GRCm39) K441E probably benign Het
Slc44a5 A T 3: 153,959,322 (GRCm39) I338F probably damaging Het
Slc4a3 A T 1: 75,534,319 (GRCm39) I1161F probably damaging Het
Spmip11 T A 15: 98,483,264 (GRCm39) L65I probably damaging Het
Tnfsf9 T A 17: 57,414,355 (GRCm39) L261M probably damaging Het
Trim55 C T 3: 19,699,498 (GRCm39) R77C probably damaging Het
Vmn2r27 A G 6: 124,168,637 (GRCm39) I831T possibly damaging Het
Vwa3b A G 1: 37,081,438 (GRCm39) I60V probably benign Het
Vwf A G 6: 125,603,230 (GRCm39) N860S Het
Zfp54 T A 17: 21,654,149 (GRCm39) N214K probably benign Het
Zfp707 T C 15: 75,845,418 (GRCm39) I94T Het
Other mutations in Pik3c2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATGCATCACCAGGCCTAATTTAAG -3'
(R):5'- ACCAAGGTTAAAAGCACTTGC -3'

Sequencing Primer
(F):5'- GATTTTAGTCACATGCTCATTCAAC -3'
(R):5'- GTAACGTGGCTATTACATGAT -3'
Posted On 2022-11-14