Incidental Mutation 'R8922:Pik3c2a'
ID 679331
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 068767-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8922 (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 T at 116017659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 33 (Q33K)
Ref Sequence ENSEMBL: ENSMUSP00000126092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000205378] [ENSMUST00000206219]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000170430
AA Change: Q33K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: Q33K

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: Q33K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000206219
AA Change: Q33K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (78/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 88,295,177 (GRCm39) D105G possibly damaging Het
Abhd14b T C 9: 106,328,835 (GRCm39) probably null Het
Acot1 C T 12: 84,064,085 (GRCm39) Q398* probably null Het
Adam26b A T 8: 43,973,216 (GRCm39) D595E probably damaging Het
Aldh1l1 T A 6: 90,536,256 (GRCm39) F54I probably damaging Het
Arhgap33 C T 7: 30,223,417 (GRCm39) E871K probably damaging Het
Aspg A T 12: 112,089,830 (GRCm39) D456V possibly damaging Het
Cacna1b A C 2: 24,622,340 (GRCm39) S215A possibly damaging Het
Car3 A T 3: 14,931,952 (GRCm39) T108S Het
Ccdc91 C T 6: 147,412,358 (GRCm39) Q23* probably null Het
Cd300lg A T 11: 101,945,028 (GRCm39) I413F probably damaging Het
Ces2h T A 8: 105,744,756 (GRCm39) M378K probably benign Het
Cfap44 C T 16: 44,272,030 (GRCm39) T1261I probably benign Het
Cir1 G A 2: 73,118,053 (GRCm39) S164L possibly damaging Het
Clasp2 A T 9: 113,725,728 (GRCm39) K790* probably null Het
Cpne8 A T 15: 90,456,213 (GRCm39) D183E probably damaging Het
Dhrs13 A G 11: 77,923,425 (GRCm39) I48V possibly damaging Het
Dpp8 G T 9: 64,981,793 (GRCm39) V692L probably benign Het
Exoc2 A T 13: 31,055,838 (GRCm39) I660N probably benign Het
Exosc5 T C 7: 25,363,673 (GRCm39) V88A probably benign Het
Extl3 G A 14: 65,292,255 (GRCm39) T856I probably damaging Het
Flnc T C 6: 29,456,835 (GRCm39) V2277A probably damaging Het
Frmd8 A G 19: 5,923,295 (GRCm39) I52T probably benign Het
Gm8947 C T 1: 151,068,655 (GRCm39) R163C probably benign Het
Golga7 A T 8: 23,740,288 (GRCm39) C81S probably damaging Het
Grik1 A C 16: 87,693,167 (GRCm39) S879A unknown Het
Helz A G 11: 107,539,985 (GRCm39) T1002A possibly damaging Het
Hes1 T A 16: 29,884,725 (GRCm39) L62* probably null Het
Hmgn2-ps A G 8: 73,058,953 (GRCm39) S25P probably benign Het
Hnrnpdl A T 5: 100,184,419 (GRCm39) Y371* probably null Het
Ifna11 T C 4: 88,738,431 (GRCm39) V79A probably benign Het
Itga4 A G 2: 79,085,938 (GRCm39) probably benign Het
Kap T C 6: 133,827,054 (GRCm39) I110V probably benign Het
Lmbrd2 A G 15: 9,172,231 (GRCm39) K342E probably damaging Het
Lrba A G 3: 86,263,973 (GRCm39) D1549G probably damaging Het
Luzp1 C T 4: 136,270,233 (GRCm39) H819Y probably damaging Het
Mmp21 T A 7: 133,276,000 (GRCm39) probably benign Het
Mto1 T C 9: 78,377,928 (GRCm39) V590A probably benign Het
Myom3 T C 4: 135,492,222 (GRCm39) L122P probably damaging Het
Nat10 T C 2: 103,582,938 (GRCm39) Y161C probably damaging Het
Ncor2 A G 5: 125,163,939 (GRCm39) V197A unknown Het
Opn4 A C 14: 34,314,955 (GRCm39) S439R probably benign Het
Or12j3 T A 7: 139,953,389 (GRCm39) I45F possibly damaging Het
Or4c3d C A 2: 89,882,695 (GRCm39) probably benign Het
Or56a41 C A 7: 104,740,469 (GRCm39) V126L probably benign Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Or5p75-ps1 T A 7: 108,107,957 (GRCm39) D231E unknown Het
Pm20d1 G T 1: 131,728,853 (GRCm39) S93I possibly damaging Het
Pou3f1 C T 4: 124,552,176 (GRCm39) A226V possibly damaging Het
Ppl T C 16: 4,923,815 (GRCm39) E191G probably benign Het
Prkag1 T C 15: 98,712,147 (GRCm39) T208A probably benign Het
Rb1cc1 T C 1: 6,319,194 (GRCm39) I871T probably benign Het
Rhd T C 4: 134,612,627 (GRCm39) S293P probably damaging Het
Rprd2 G T 3: 95,687,896 (GRCm39) T252K probably damaging Het
Scn5a C A 9: 119,363,766 (GRCm39) R458L probably benign Het
Scrib C T 15: 75,933,587 (GRCm39) probably null Het
Sec24d G A 3: 123,144,488 (GRCm39) G655E probably damaging Het
Serpine3 A G 14: 62,910,503 (GRCm39) R199G probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc44a1 A G 4: 53,544,545 (GRCm39) K419E probably damaging Het
Speer4a3 C T 5: 26,156,594 (GRCm39) M128I possibly damaging Het
Styxl1 T C 5: 135,776,634 (GRCm39) E318G probably benign Het
Tcstv2a A G 13: 120,725,666 (GRCm39) E110G probably benign Het
Tesmin A G 19: 3,454,163 (GRCm39) K346E probably damaging Het
Thpo A T 16: 20,547,680 (GRCm39) L6Q unknown Het
Tlr2 T A 3: 83,745,075 (GRCm39) E336V probably benign Het
Tmem167b A G 3: 108,467,541 (GRCm39) L35P probably benign Het
Topaz1 A T 9: 122,625,101 (GRCm39) E1395D possibly damaging Het
Trim29 G T 9: 43,233,636 (GRCm39) R434L possibly damaging Het
Trim68 T C 7: 102,327,550 (GRCm39) I468V probably benign Het
Ttn C A 2: 76,542,628 (GRCm39) V33453F probably benign Het
Ubac1 A T 2: 25,896,621 (GRCm39) V298D probably damaging Het
Vmn1r185 C A 7: 26,310,825 (GRCm39) V227F probably damaging Het
Vmn1r21 T A 6: 57,820,829 (GRCm39) H205L probably damaging Het
Zbtb16 A G 9: 48,743,857 (GRCm39) Y152H probably benign Het
Zbtb20 A T 16: 43,397,968 (GRCm39) N19I probably damaging Het
Zfp438 A G 18: 5,213,422 (GRCm39) M512T 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
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
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'- GCCTGGGTGAGCTTTTCTA -3'
(R):5'- TGTGTTTAGAAAATCTAACTGACTGT -3'

Sequencing Primer
(F):5'- GGGTGAGCTTTTCTACATCAATATC -3'
(R):5'- GTGGACATGGCTCAGATT -3'
Posted On 2021-08-02