Incidental Mutation 'R9513:Pik3c2a'
ID 718300
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 # R9513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115939321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 1672 (K1672N)
Ref Sequence ENSEMBL: ENSMUSP00000126092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000206219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000170430
AA Change: K1672N

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: K1672N

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 benign
Transcript: ENSMUST00000206219
AA Change: K1672N

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000206385
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Accsl T C 2: 93,699,498 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,530,472 (GRCm39) K5867N possibly damaging Het
Adh1 T A 3: 137,988,571 (GRCm39) Y181* probably null Het
Agbl2 T C 2: 90,631,458 (GRCm39) V272A possibly damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Amotl1 A T 9: 14,526,063 (GRCm39) S6T probably benign Het
Bicd1 T A 6: 149,414,391 (GRCm39) V368E probably damaging Het
Brinp2 G A 1: 158,074,273 (GRCm39) T616I probably damaging Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Cacna1e T A 1: 154,318,033 (GRCm39) I1450F probably damaging Het
Camk2a A G 18: 61,088,607 (GRCm39) probably null Het
Ccdc125 A G 13: 100,826,875 (GRCm39) E244G probably benign Het
Cdh23 C T 10: 60,166,995 (GRCm39) A1884T probably damaging Het
Clcn1 T C 6: 42,282,462 (GRCm39) I510T probably damaging Het
Copb1 A T 7: 113,831,432 (GRCm39) V572D probably benign Het
Ctf1 AGCAAC A 7: 127,316,180 (GRCm39) probably null Het
Dnhd1 T A 7: 105,354,179 (GRCm39) L3053Q probably damaging Het
Ephb4 T A 5: 137,361,564 (GRCm39) H531Q possibly damaging Het
Fgl2 T A 5: 21,580,790 (GRCm39) C377* probably null Het
Frmd4a T C 2: 4,608,711 (GRCm39) F860L probably damaging Het
Gbp9 T C 5: 105,229,091 (GRCm39) N519D probably benign Het
Gm1110 A G 9: 26,795,083 (GRCm39) S468P possibly damaging Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gnas T C 2: 174,185,089 (GRCm39) Y916H probably damaging Het
Hectd1 T C 12: 51,816,079 (GRCm39) D1336G possibly damaging Het
Herc2 G T 7: 55,762,848 (GRCm39) G859V probably damaging Het
Hydin G A 8: 111,322,114 (GRCm39) D4589N probably damaging Het
Itfg1 A T 8: 86,490,875 (GRCm39) N351K possibly damaging Het
Kcnd3 G A 3: 105,572,863 (GRCm39) probably null Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Lcn4 C T 2: 26,560,613 (GRCm39) probably null Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Lrrtm2 A G 18: 35,346,687 (GRCm39) I205T probably damaging Het
Mepce G C 5: 137,783,759 (GRCm39) P189R probably damaging Het
Mfap1a T C 2: 121,330,084 (GRCm39) K221E probably benign Het
Myo7a A G 7: 97,746,818 (GRCm39) probably null Het
Ncbp3 T C 11: 72,938,727 (GRCm39) M1T probably null Het
Nck1 A T 9: 100,379,369 (GRCm39) M294K probably benign Het
Nr2f2 A T 7: 70,010,056 (GRCm39) W8R probably damaging Het
Or12e10 T A 2: 87,640,187 (GRCm39) S8T possibly damaging Het
Or1e20-ps1 T A 11: 73,324,818 (GRCm39) Q78L unknown Het
Or4c12b A T 2: 89,647,553 (GRCm39) R288S probably damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or7e169 A G 9: 19,757,816 (GRCm39) L33P possibly damaging Het
Or8g18 T C 9: 39,149,625 (GRCm39) T32A probably benign Het
Or8j3c A T 2: 86,253,707 (GRCm39) F104L probably damaging Het
Pcdha1 A G 18: 37,065,286 (GRCm39) K650R probably benign Het
Pgm1 T A 4: 99,841,242 (GRCm39) I532N probably damaging Het
Pou3f1 G A 4: 124,552,835 (GRCm39) G446S probably benign Het
Ppm1j T C 3: 104,693,134 (GRCm39) I497T probably damaging Het
Pprc1 C T 19: 46,056,500 (GRCm39) Q1202* probably null Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Prdm15 T C 16: 97,607,704 (GRCm39) N713S probably damaging Het
Ptprb A G 10: 116,138,142 (GRCm39) T62A probably benign Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Ranbp3l A T 15: 9,037,176 (GRCm39) R149* probably null Het
Resf1 T A 6: 149,229,793 (GRCm39) Y946* probably null Het
Rfx4 T A 10: 84,674,050 (GRCm39) M1K probably null Het
Ripk4 G T 16: 97,547,098 (GRCm39) S388* probably null Het
Rnft1 T G 11: 86,377,065 (GRCm39) I43R possibly damaging Het
Setbp1 A T 18: 78,899,781 (GRCm39) F1295L probably damaging Het
Sez6 A G 11: 77,865,409 (GRCm39) D682G probably damaging Het
Slc1a1 T C 19: 28,812,734 (GRCm39) probably null Het
Slc7a5 G T 8: 122,613,616 (GRCm39) T312K probably benign Het
Slco4c1 A T 1: 96,799,643 (GRCm39) N64K probably benign Het
Spata13 C T 14: 60,929,849 (GRCm39) T469I probably benign Het
Stxbp5 T A 10: 9,687,754 (GRCm39) N440I probably benign Het
Tas2r114 T A 6: 131,666,746 (GRCm39) Q94L probably benign Het
Tasor T A 14: 27,186,271 (GRCm39) C823* probably null Het
Tfr2 A G 5: 137,575,769 (GRCm39) D295G possibly damaging Het
Thap7 A G 16: 17,348,152 (GRCm39) Y60H probably damaging Het
Tjap1 G T 17: 46,569,733 (GRCm39) P409H probably damaging Het
Tmtc4 G A 14: 123,209,204 (GRCm39) A147V probably benign Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trafd1 T C 5: 121,516,837 (GRCm39) N122S possibly damaging Het
Vmn1r151 T A 7: 22,199,096 (GRCm39) D3V probably benign Het
Wdr20rt A G 12: 65,272,825 (GRCm39) Y96C probably damaging Het
Zfp507 A G 7: 35,475,573 (GRCm39) V880A probably benign Het
Zfp598 A G 17: 24,896,568 (GRCm39) D215G probably damaging Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp738 A T 13: 67,817,635 (GRCm39) C785* probably null Het
Zfp985 C T 4: 147,667,999 (GRCm39) T289I probably damaging Het
Zkscan6 T A 11: 65,712,795 (GRCm39) Y243N probably 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
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
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'- GACAGTTGGTCCAACATGTTAAG -3'
(R):5'- TCAGTGCCATTCATTGCATCAC -3'

Sequencing Primer
(F):5'- GTTCCCAAGTGTGTGTATG -3'
(R):5'- CATTGCATCACTTTTTGACTGATG -3'
Posted On 2022-07-18