Incidental Mutation 'R0501:Pik3c2a'
ID 47125
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 038696-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0501 (G1)
Quality Score 206
Status Not validated
Chromosome 7
Chromosomal Location 116337265-116443449 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116354055 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1202 (V1202L)
Ref Sequence ENSEMBL: ENSMUSP00000146181 (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: V1202L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: V1202L

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: V1202L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000206385
AA Change: V365L
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,372 (GRCm38) S415P probably benign Het
Adam19 C T 11: 46,123,130 (GRCm38) P316S probably damaging Het
Adamts2 A G 11: 50,668,145 (GRCm38) D229G probably benign Het
Adcy10 C T 1: 165,510,390 (GRCm38) P191L probably damaging Het
Adgrv1 T C 13: 81,559,150 (GRCm38) Y1379C probably damaging Het
Akap9 T C 5: 3,970,685 (GRCm38) L1132P probably damaging Het
Aoah A G 13: 21,005,073 (GRCm38) T489A probably benign Het
Apc2 T C 10: 80,315,124 (GRCm38) L1975P probably damaging Het
Bpifa5 A T 2: 154,163,696 (GRCm38) D66V probably benign Het
C230029F24Rik T C 1: 49,335,470 (GRCm38) noncoding transcript Het
Cacna1h A T 17: 25,388,667 (GRCm38) V892E probably damaging Het
Car4 G A 11: 84,963,442 (GRCm38) V72I probably benign Het
Chst3 A G 10: 60,186,227 (GRCm38) L266P probably damaging Het
Ckap2l G A 2: 129,285,491 (GRCm38) R256W possibly damaging Het
Cntn4 A T 6: 106,618,335 (GRCm38) D471V probably damaging Het
Cntrob G A 11: 69,322,868 (GRCm38) S32F probably damaging Het
Cpne7 T A 8: 123,126,255 (GRCm38) N200K possibly damaging Het
Creb3l3 C A 10: 81,086,582 (GRCm38) M271I probably benign Het
Csmd1 T A 8: 17,027,323 (GRCm38) Q106L probably damaging Het
D7Ertd443e G A 7: 134,294,972 (GRCm38) T563I probably damaging Het
Dmac1 T G 4: 75,278,176 (GRCm38) N26H unknown Het
Dopey2 T C 16: 93,752,862 (GRCm38) F230L probably benign Het
Dpp6 T A 5: 27,725,606 (GRCm38) I812N probably damaging Het
Fabp12 T C 3: 10,250,143 (GRCm38) D48G probably benign Het
Fbn1 G A 2: 125,301,749 (GRCm38) T2820M probably benign Het
Fcho1 C T 8: 71,712,560 (GRCm38) A418T probably benign Het
Fcho2 A T 13: 98,764,515 (GRCm38) S277R possibly damaging Het
Fmo2 A G 1: 162,876,928 (GRCm38) S470P probably benign Het
Gm17541 T G 12: 4,689,730 (GRCm38) probably benign Het
Gm4353 A T 7: 116,083,471 (GRCm38) Y292N probably benign Het
Igkv4-71 A T 6: 69,243,306 (GRCm38) I69N probably damaging Het
Insrr G T 3: 87,810,684 (GRCm38) A871S probably benign Het
Irs2 C T 8: 11,006,396 (GRCm38) V679M probably damaging Het
Itpr3 T A 17: 27,107,289 (GRCm38) H1344Q probably benign Het
Kcnma1 T C 14: 23,311,716 (GRCm38) M1074V possibly damaging Het
Kif1a G A 1: 93,056,245 (GRCm38) R602W probably damaging Het
Kif21b A T 1: 136,163,099 (GRCm38) D1215V probably benign Het
Maats1 C G 16: 38,335,635 (GRCm38) M75I probably damaging Het
Mapk13 G A 17: 28,776,353 (GRCm38) V183M probably damaging Het
Mbp C T 18: 82,575,197 (GRCm38) S100F probably damaging Het
Mcm6 A G 1: 128,355,636 (GRCm38) I44T probably benign Het
Ncor1 T A 11: 62,373,322 (GRCm38) D418V possibly damaging Het
Nid2 T A 14: 19,789,668 (GRCm38) probably null Het
Nolc1 T C 19: 46,078,920 (GRCm38) V80A probably damaging Het
Olfr1024 A G 2: 85,905,004 (GRCm38) F17L probably damaging Het
Olfr1121 A T 2: 87,371,552 (GRCm38) R7W probably damaging Het
Olfr1162 A T 2: 88,050,471 (GRCm38) I51N probably damaging Het
Olfr1240 T C 2: 89,439,716 (GRCm38) T188A probably benign Het
Olfr1338 C A 4: 118,753,830 (GRCm38) C238F probably benign Het
Olfr1508 T A 14: 52,463,926 (GRCm38) M1L possibly damaging Het
Olfr3 A T 2: 36,812,480 (GRCm38) L204* probably null Het
Olfr70 A C 4: 43,697,079 (GRCm38) C31W probably damaging Het
Olfr700 G A 7: 106,805,811 (GRCm38) S217F probably damaging Het
Olfr705 A T 7: 106,714,603 (GRCm38) M26K probably benign Het
Olfr713 A T 7: 107,036,232 (GRCm38) T26S probably benign Het
Olfr855 T A 9: 19,584,618 (GRCm38) I27N probably damaging Het
Pcgf3 T A 5: 108,475,112 (GRCm38) C38S probably damaging Het
Pdia4 A T 6: 47,801,002 (GRCm38) V352E probably damaging Het
Rbm15 G T 3: 107,332,530 (GRCm38) A184E possibly damaging Het
Rsph3a T A 17: 7,979,120 (GRCm38) L442* probably null Het
Scg2 G C 1: 79,435,603 (GRCm38) L468V probably damaging Het
Sdk1 A T 5: 141,937,718 (GRCm38) I365L probably benign Het
Setdb1 A G 3: 95,338,829 (GRCm38) V595A probably benign Het
Slc22a22 T A 15: 57,249,650 (GRCm38) T398S probably benign Het
Stk11 C A 10: 80,126,285 (GRCm38) P217Q probably damaging Het
Tes G A 6: 17,097,558 (GRCm38) D222N probably benign Het
Tmem132e T A 11: 82,435,068 (GRCm38) I206N possibly damaging Het
Tmem214 G T 5: 30,872,532 (GRCm38) R251L probably damaging Het
Tmem253 T A 14: 52,018,579 (GRCm38) I105N probably damaging Het
Toe1 A G 4: 116,807,485 (GRCm38) V12A probably benign Het
Top1 C A 2: 160,714,159 (GRCm38) H513N probably damaging Het
Tph1 G T 7: 46,649,988 (GRCm38) Y376* probably null Het
Trim45 T A 3: 100,923,219 (GRCm38) L103Q probably damaging Het
Ttc37 A C 13: 76,147,806 (GRCm38) M1063L probably benign Het
Ttn T A 2: 76,944,174 (GRCm38) probably null Het
Twnk T C 19: 45,007,746 (GRCm38) V206A probably damaging Het
Ube2z A G 11: 96,050,288 (GRCm38) S343P probably damaging Het
Vmn2r8 T C 5: 108,803,183 (GRCm38) D132G probably benign Het
Wdr20rt A T 12: 65,225,807 (GRCm38) T15S probably benign Het
Wdr59 C T 8: 111,458,947 (GRCm38) R841Q possibly damaging Het
Wdtc1 A G 4: 133,308,840 (GRCm38) F130L possibly damaging Het
Wnk1 C T 6: 119,962,803 (GRCm38) R43Q probably damaging Het
Ythdf3 T C 3: 16,205,072 (GRCm38) L461P probably damaging Het
Zcchc2 T G 1: 106,016,091 (GRCm38) F462C possibly damaging Het
Other mutations in Pik3c2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Pik3c2a APN 7 116,376,283 (GRCm38) missense possibly damaging 0.50
IGL00732:Pik3c2a APN 7 116,364,500 (GRCm38) missense possibly damaging 0.82
IGL01303:Pik3c2a APN 7 116,373,803 (GRCm38) missense possibly damaging 0.94
IGL01443:Pik3c2a APN 7 116,418,194 (GRCm38) missense probably benign 0.01
IGL01462:Pik3c2a APN 7 116,376,250 (GRCm38) missense possibly damaging 0.94
IGL01641:Pik3c2a APN 7 116,350,765 (GRCm38) intron probably benign
IGL01695:Pik3c2a APN 7 116,417,518 (GRCm38) missense possibly damaging 0.82
IGL02095:Pik3c2a APN 7 116,346,188 (GRCm38) missense probably damaging 1.00
IGL02137:Pik3c2a APN 7 116,350,804 (GRCm38) missense probably benign 0.00
IGL02160:Pik3c2a APN 7 116,388,064 (GRCm38) missense probably damaging 1.00
IGL02224:Pik3c2a APN 7 116,363,340 (GRCm38) splice site probably benign
IGL02345:Pik3c2a APN 7 116,405,891 (GRCm38) missense probably damaging 1.00
IGL02644:Pik3c2a APN 7 116,372,814 (GRCm38) missense probably benign 0.00
IGL02756:Pik3c2a APN 7 116,364,513 (GRCm38) missense probably benign 0.01
IGL03339:Pik3c2a APN 7 116,418,021 (GRCm38) missense possibly damaging 0.57
IGL03412:Pik3c2a APN 7 116,417,839 (GRCm38) missense probably benign 0.21
R0046:Pik3c2a UTSW 7 116,354,072 (GRCm38) missense probably damaging 1.00
R0387:Pik3c2a UTSW 7 116,373,744 (GRCm38) missense probably damaging 1.00
R0650:Pik3c2a UTSW 7 116,346,247 (GRCm38) splice site probably benign
R0991:Pik3c2a UTSW 7 116,362,045 (GRCm38) critical splice donor site probably null
R1074:Pik3c2a UTSW 7 116,350,925 (GRCm38) nonsense probably null
R1485:Pik3c2a UTSW 7 116,417,673 (GRCm38) missense possibly damaging 0.50
R1495:Pik3c2a UTSW 7 116,388,065 (GRCm38) missense probably benign 0.01
R1510:Pik3c2a UTSW 7 116,388,045 (GRCm38) missense probably benign 0.00
R1654:Pik3c2a UTSW 7 116,368,848 (GRCm38) missense probably benign 0.02
R1711:Pik3c2a UTSW 7 116,417,927 (GRCm38) nonsense probably null
R1733:Pik3c2a UTSW 7 116,418,520 (GRCm38) start codon destroyed possibly damaging 0.96
R1751:Pik3c2a UTSW 7 116,346,236 (GRCm38) missense probably damaging 0.98
R1812:Pik3c2a UTSW 7 116,417,664 (GRCm38) missense probably damaging 0.98
R1817:Pik3c2a UTSW 7 116,376,512 (GRCm38) critical splice donor site probably null
R1826:Pik3c2a UTSW 7 116,368,117 (GRCm38) missense probably benign
R1875:Pik3c2a UTSW 7 116,417,971 (GRCm38) missense probably benign 0.35
R1995:Pik3c2a UTSW 7 116,354,006 (GRCm38) missense probably damaging 1.00
R2007:Pik3c2a UTSW 7 116,342,237 (GRCm38) missense probably damaging 1.00
R2009:Pik3c2a UTSW 7 116,364,503 (GRCm38) missense probably damaging 1.00
R2013:Pik3c2a UTSW 7 116,350,931 (GRCm38) critical splice acceptor site probably null
R2014:Pik3c2a UTSW 7 116,350,931 (GRCm38) critical splice acceptor site probably null
R2015:Pik3c2a UTSW 7 116,350,931 (GRCm38) critical splice acceptor site probably null
R2027:Pik3c2a UTSW 7 116,350,822 (GRCm38) missense probably damaging 1.00
R2050:Pik3c2a UTSW 7 116,417,451 (GRCm38) critical splice donor site probably null
R2068:Pik3c2a UTSW 7 116,372,891 (GRCm38) nonsense probably null
R3814:Pik3c2a UTSW 7 116,348,179 (GRCm38) missense probably damaging 1.00
R3848:Pik3c2a UTSW 7 116,364,550 (GRCm38) nonsense probably null
R4386:Pik3c2a UTSW 7 116,354,099 (GRCm38) missense probably damaging 1.00
R4668:Pik3c2a UTSW 7 116,358,688 (GRCm38) missense probably benign 0.16
R4783:Pik3c2a UTSW 7 116,417,825 (GRCm38) missense probably damaging 1.00
R4860:Pik3c2a UTSW 7 116,340,156 (GRCm38) missense probably damaging 1.00
R4860:Pik3c2a UTSW 7 116,340,156 (GRCm38) missense probably damaging 1.00
R5057:Pik3c2a UTSW 7 116,376,283 (GRCm38) missense possibly damaging 0.50
R5080:Pik3c2a UTSW 7 116,348,274 (GRCm38) missense probably damaging 1.00
R5083:Pik3c2a UTSW 7 116,342,401 (GRCm38) missense probably damaging 1.00
R5144:Pik3c2a UTSW 7 116,350,786 (GRCm38) missense probably benign 0.01
R5589:Pik3c2a UTSW 7 116,417,658 (GRCm38) missense probably benign 0.02
R5646:Pik3c2a UTSW 7 116,405,951 (GRCm38) missense probably damaging 1.00
R5829:Pik3c2a UTSW 7 116,372,814 (GRCm38) missense probably benign 0.00
R5951:Pik3c2a UTSW 7 116,368,184 (GRCm38) missense probably damaging 0.96
R5958:Pik3c2a UTSW 7 116,362,564 (GRCm38) missense probably damaging 1.00
R6356:Pik3c2a UTSW 7 116,348,205 (GRCm38) missense possibly damaging 0.46
R6551:Pik3c2a UTSW 7 116,417,496 (GRCm38) missense probably damaging 0.97
R6641:Pik3c2a UTSW 7 116,340,225 (GRCm38) critical splice acceptor site probably null
R6661:Pik3c2a UTSW 7 116,368,758 (GRCm38) missense possibly damaging 0.77
R6789:Pik3c2a UTSW 7 116,362,184 (GRCm38) missense probably damaging 1.00
R6874:Pik3c2a UTSW 7 116,394,305 (GRCm38) missense probably damaging 1.00
R6985:Pik3c2a UTSW 7 116,417,988 (GRCm38) missense probably damaging 0.98
R7106:Pik3c2a UTSW 7 116,418,133 (GRCm38) nonsense probably null
R7153:Pik3c2a UTSW 7 116,342,252 (GRCm38) missense probably damaging 1.00
R7176:Pik3c2a UTSW 7 116,388,096 (GRCm38) missense possibly damaging 0.47
R7265:Pik3c2a UTSW 7 116,388,086 (GRCm38) missense probably damaging 1.00
R7303:Pik3c2a UTSW 7 116,405,943 (GRCm38) missense probably benign 0.00
R7308:Pik3c2a UTSW 7 116,373,839 (GRCm38) missense probably damaging 1.00
R7375:Pik3c2a UTSW 7 116,376,386 (GRCm38) missense probably damaging 1.00
R7406:Pik3c2a UTSW 7 116,354,007 (GRCm38) missense probably damaging 1.00
R7426:Pik3c2a UTSW 7 116,372,854 (GRCm38) missense probably damaging 1.00
R7528:Pik3c2a UTSW 7 116,394,239 (GRCm38) missense probably damaging 1.00
R7539:Pik3c2a UTSW 7 116,340,096 (GRCm38) missense probably damaging 0.97
R7684:Pik3c2a UTSW 7 116,388,077 (GRCm38) nonsense probably null
R7737:Pik3c2a UTSW 7 116,356,253 (GRCm38) missense probably damaging 0.99
R7739:Pik3c2a UTSW 7 116,394,294 (GRCm38) missense probably benign 0.26
R7852:Pik3c2a UTSW 7 116,417,458 (GRCm38) missense probably benign
R7922:Pik3c2a UTSW 7 116,391,282 (GRCm38) missense probably damaging 1.00
R7956:Pik3c2a UTSW 7 116,350,115 (GRCm38) missense probably benign 0.01
R8005:Pik3c2a UTSW 7 116,418,036 (GRCm38) missense probably damaging 1.00
R8158:Pik3c2a UTSW 7 116,342,997 (GRCm38) missense probably benign 0.00
R8329:Pik3c2a UTSW 7 116,418,048 (GRCm38) missense probably damaging 1.00
R8478:Pik3c2a UTSW 7 116,418,349 (GRCm38) missense probably damaging 0.96
R8736:Pik3c2a UTSW 7 116,376,229 (GRCm38) missense possibly damaging 0.47
R8812:Pik3c2a UTSW 7 116,351,877 (GRCm38) missense probably damaging 1.00
R8922:Pik3c2a UTSW 7 116,418,424 (GRCm38) missense probably damaging 1.00
R8953:Pik3c2a UTSW 7 116,388,085 (GRCm38) missense probably benign 0.19
R9105:Pik3c2a UTSW 7 116,372,814 (GRCm38) missense probably benign 0.00
R9111:Pik3c2a UTSW 7 116,394,296 (GRCm38) missense probably damaging 0.99
R9152:Pik3c2a UTSW 7 116,417,769 (GRCm38) missense probably benign 0.30
R9241:Pik3c2a UTSW 7 116,417,880 (GRCm38) missense probably benign 0.02
R9301:Pik3c2a UTSW 7 116,346,178 (GRCm38) missense probably damaging 1.00
R9325:Pik3c2a UTSW 7 116,391,323 (GRCm38) missense probably damaging 0.99
R9482:Pik3c2a UTSW 7 116,362,054 (GRCm38) missense probably benign 0.04
R9513:Pik3c2a UTSW 7 116,340,086 (GRCm38) missense probably benign 0.06
R9569:Pik3c2a UTSW 7 116,358,704 (GRCm38) missense possibly damaging 0.89
R9758:Pik3c2a UTSW 7 116,346,192 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCACCTAAATTAGGCAGCTAAATGAC -3'
(R):5'- gccatctctccagATCTTGGATGCTTTT -3'

Sequencing Primer
(F):5'- TGACATTGAACCTGGAGTCC -3'
(R):5'- ctgtaacgaaatctgatgccc -3'
Posted On 2013-06-12