Incidental Mutation 'R2015:Pik3c2a'
ID 222818
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 040024-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2015 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 115950166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000206219]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000170430
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660

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 null
Transcript: ENSMUST00000206219
Predicted Effect probably benign
Transcript: ENSMUST00000206385
Meta Mutation Damage Score 0.9500 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,022,672 (GRCm39) M1022K probably benign Het
Abhd4 T A 14: 54,500,289 (GRCm39) H74Q probably damaging Het
Actg1 A G 11: 120,237,636 (GRCm39) S49P possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Akr1c18 T A 13: 4,195,308 (GRCm39) D50V probably damaging Het
Ankrd13a C A 5: 114,930,170 (GRCm39) A185E probably damaging Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Armc8 A T 9: 99,365,158 (GRCm39) C661* probably null Het
Bbs10 C T 10: 111,136,716 (GRCm39) Q610* probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
Cdk14 T C 5: 5,430,082 (GRCm39) K15R probably benign Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cep250 A C 2: 155,823,373 (GRCm39) H1009P probably damaging Het
Cfap97d1 C A 11: 101,878,044 (GRCm39) H35Q probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Col19a1 C G 1: 24,598,834 (GRCm39) G53A unknown Het
Cpne1 G A 2: 155,920,308 (GRCm39) R166C probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Gm9936 T A 5: 114,995,482 (GRCm39) probably benign Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
H2ac25 T A 11: 58,845,754 (GRCm39) L64Q probably damaging Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Herpud1 T C 8: 95,118,834 (GRCm39) V196A probably benign Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Klra8 C A 6: 130,092,536 (GRCm39) C255F probably damaging Het
Krtap4-6 A T 11: 99,556,398 (GRCm39) C110S unknown Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lnpep G A 17: 17,799,325 (GRCm39) T110I probably damaging Het
Lrp1 T A 10: 127,376,563 (GRCm39) T4282S probably benign Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Ly6g5b A C 17: 35,333,654 (GRCm39) S53A possibly damaging Het
M6pr T G 6: 122,290,332 (GRCm39) N98K probably damaging Het
Mal2 T C 15: 54,464,136 (GRCm39) *176Q probably null Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Marchf1 C A 8: 66,574,473 (GRCm39) N11K probably damaging Het
Mast3 T A 8: 71,240,007 (GRCm39) I338F probably benign Het
Mcm3 A G 1: 20,873,804 (GRCm39) L772P probably damaging Het
Mib2 C T 4: 155,742,337 (GRCm39) G176D probably damaging Het
Mier2 A T 10: 79,377,036 (GRCm39) probably null Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Msl2 G T 9: 100,957,304 (GRCm39) probably benign Het
Naa16 A T 14: 79,582,499 (GRCm39) M530K probably damaging Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Ndufb10 T C 17: 24,941,503 (GRCm39) probably null Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Npffr2 T A 5: 89,730,751 (GRCm39) I227N probably damaging Het
Nup210l T A 3: 90,092,739 (GRCm39) L1231Q probably damaging Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Pclo C A 5: 14,571,515 (GRCm39) P300Q probably damaging Het
Plekha5 T A 6: 140,480,290 (GRCm39) probably null Het
Pls1 A G 9: 95,643,418 (GRCm39) V527A possibly damaging Het
Ppfia2 T C 10: 106,310,538 (GRCm39) M15T probably benign Het
Prkd2 T A 7: 16,581,602 (GRCm39) C152* probably null Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rbbp8 T C 18: 11,853,681 (GRCm39) M296T probably benign Het
Rfc3 T C 5: 151,571,003 (GRCm39) probably null Het
Rnf17 A G 14: 56,724,426 (GRCm39) N1090S probably benign Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sgta A T 10: 80,887,130 (GRCm39) V45E probably damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slc2a8 A C 2: 32,871,392 (GRCm39) V136G probably benign Het
Smg7 A T 1: 152,736,259 (GRCm39) N166K probably damaging Het
Spata21 C T 4: 140,834,640 (GRCm39) Q505* probably null Het
Strn4 T C 7: 16,566,953 (GRCm39) S458P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Trabd T A 15: 88,968,929 (GRCm39) M149K possibly damaging Het
Trpv3 A T 11: 73,170,653 (GRCm39) N178Y probably damaging Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsg101 C T 7: 46,558,652 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Unc13d A G 11: 115,959,581 (GRCm39) S631P probably damaging Het
Unc5d T C 8: 29,249,007 (GRCm39) T297A probably damaging Het
Usp18 A T 6: 121,245,509 (GRCm39) E1V probably damaging Het
Vapb C A 2: 173,613,391 (GRCm39) P97T probably benign Het
Vmn1r33 T A 6: 66,589,356 (GRCm39) D66V probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdfy3 A C 5: 102,008,352 (GRCm39) S2778A probably null Het
Zbtb2 T A 10: 4,319,757 (GRCm39) I90F possibly damaging Het
Zfp518b C A 5: 38,829,345 (GRCm39) V887F probably benign Het
Zfp790 A G 7: 29,528,286 (GRCm39) T324A probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly damaging 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
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
R9758:Pik3c2a UTSW 7 115,945,427 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAAAGACGGTTACCAGTGAG -3'
(R):5'- CCACTGTTGAATATGTCTTTGAGG -3'

Sequencing Primer
(F):5'- CGGTTACCAGTGAGAGAAGGTTAAG -3'
(R):5'- TCTGTTCCAATGATGAAGTTGC -3'
Posted On 2014-08-25