Incidental Mutation 'R6985:Pik3c2a'
ID 542905
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 045092-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6985 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116017223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 178 (T178I)
Ref Sequence ENSEMBL: ENSMUSP00000145572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000205378] [ENSMUST00000206219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000170430
AA Change: T178I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: T178I

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: ENSMUST00000205378
AA Change: T178I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206219
AA Change: T178I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.1038 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin1 A G 4: 123,630,649 (GRCm39) *192R probably null Het
Ankar A C 1: 72,697,641 (GRCm39) L836R probably damaging Het
Anxa7 G T 14: 20,521,636 (GRCm39) A20E unknown Het
Arhgap1 T A 2: 91,498,543 (GRCm39) Y147N probably damaging Het
Arid2 T C 15: 96,268,029 (GRCm39) V714A probably benign Het
Arrdc3 T C 13: 81,031,776 (GRCm39) L3P probably damaging Het
Bhmt2 T C 13: 93,799,830 (GRCm39) D202G possibly damaging Het
Bub1b A G 2: 118,437,095 (GRCm39) R98G probably damaging Het
Capn10 T C 1: 92,871,146 (GRCm39) Y319H probably damaging Het
Cep95 T C 11: 106,709,529 (GRCm39) F115S probably damaging Het
Chsy3 A T 18: 59,309,560 (GRCm39) probably null Het
Cnot1 T C 8: 96,460,757 (GRCm39) N1755S probably benign Het
Cntn4 A G 6: 106,656,378 (GRCm39) N893S probably benign Het
Ctsh G A 9: 89,936,657 (GRCm39) A19T possibly damaging Het
Cttn C A 7: 144,006,324 (GRCm39) E214* probably null Het
Des A G 1: 75,343,431 (GRCm39) E438G possibly damaging Het
Dnaja4 T C 9: 54,615,679 (GRCm39) V109A probably benign Het
Dock1 A G 7: 134,765,132 (GRCm39) E1708G possibly damaging Het
Dst T C 1: 34,229,934 (GRCm39) I2184T probably benign Het
Enc1 C T 13: 97,381,628 (GRCm39) T46I possibly damaging Het
Etaa1 A G 11: 17,896,108 (GRCm39) S670P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fbn2 A T 18: 58,201,460 (GRCm39) V1319E probably damaging Het
Fcrl1 T A 3: 87,296,957 (GRCm39) V302E probably benign Het
Fgfr3 G C 5: 33,892,785 (GRCm39) E744Q probably null Het
Gmps T A 3: 63,922,960 (GRCm39) I641N probably damaging Het
Gpc2 T A 5: 138,276,670 (GRCm39) Y152F probably damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Herc2 A G 7: 55,782,228 (GRCm39) D1305G probably damaging Het
Ighv1-37 T C 12: 114,860,252 (GRCm39) T14A probably benign Het
Insr T A 8: 3,211,372 (GRCm39) M1156L possibly damaging Het
Kirrel2 C A 7: 30,154,731 (GRCm39) G127C probably damaging Het
Krt10 T C 11: 99,276,456 (GRCm39) N65S possibly damaging Het
Lrig3 A G 10: 125,850,738 (GRCm39) I1101M possibly damaging Het
Lrrc55 T G 2: 85,022,274 (GRCm39) N306H probably benign Het
Map4k3 A G 17: 80,944,161 (GRCm39) S329P probably damaging Het
Mapkap1 T G 2: 34,322,122 (GRCm39) H13Q probably damaging Het
Mki67 A G 7: 135,315,594 (GRCm39) L60S probably damaging Het
Muc4 A T 16: 32,570,817 (GRCm39) M626L probably benign Het
Mycbp2 C T 14: 103,444,117 (GRCm39) V1914I possibly damaging Het
Myo5b T C 18: 74,786,432 (GRCm39) F442L possibly damaging Het
Naa35 T A 13: 59,775,757 (GRCm39) M545K probably benign Het
Nrxn2 T A 19: 6,531,275 (GRCm39) V645E probably damaging Het
Or52z14 A G 7: 103,252,875 (GRCm39) T5A probably benign Het
Or5af2 T C 11: 58,707,939 (GRCm39) F35S probably damaging Het
Otx1 A T 11: 21,946,615 (GRCm39) Y231* probably null Het
Pcdhb19 A G 18: 37,630,211 (GRCm39) E2G probably benign Het
Plxna4 A G 6: 32,214,643 (GRCm39) S613P probably damaging Het
Pon1 T G 6: 5,168,345 (GRCm39) D354A probably benign Het
Prtg T G 9: 72,758,783 (GRCm39) I379S probably damaging Het
Rbm17 T G 2: 11,595,504 (GRCm39) M234L probably benign Het
Rex1bd T C 8: 70,958,555 (GRCm39) S71G probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Shank1 A G 7: 43,994,337 (GRCm39) I833V unknown Het
Slc35f1 C A 10: 52,898,007 (GRCm39) D139E probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Spata31d1d T A 13: 59,879,429 (GRCm39) I36F probably benign Het
Sstr4 T A 2: 148,238,169 (GRCm39) M260K probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trat1 A G 16: 48,574,634 (GRCm39) Y55H probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Vcan T C 13: 89,828,075 (GRCm39) T3124A probably damaging Het
Wdfy4 A T 14: 32,821,074 (GRCm39) F1385Y possibly damaging Het
Xrcc3 T C 12: 111,778,530 (GRCm39) D7G 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
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'- TGCAGACTGAAGCTTTCGAG -3'
(R):5'- GCCAGTTACTCCTGTTCTGAG -3'

Sequencing Primer
(F):5'- CAGACTGAAGCTTTCGAGTTTGC -3'
(R):5'- GAGCCCTTCGTTCTCAACACAG -3'
Posted On 2018-11-28