Incidental Mutation 'R2027:Pik3c2a'
ID 220796
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 040035-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2027 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115950057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1320 (Y1320C)
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: Y1320C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: Y1320C

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: Y1320C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206385
Meta Mutation Damage Score 0.9468 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,502,254 (GRCm39) V138A possibly damaging Het
Aatk A G 11: 119,900,143 (GRCm39) S1291P probably damaging Het
Adgrv1 C T 13: 81,743,301 (GRCm39) V67M probably damaging Het
Apoa4 G A 9: 46,154,298 (GRCm39) V300M probably damaging Het
Bcl2a1d A T 9: 88,613,438 (GRCm39) V112E possibly damaging Het
Bltp1 T A 3: 37,102,110 (GRCm39) probably benign Het
Cabp2 T A 19: 4,137,126 (GRCm39) M166K probably damaging Het
Camsap1 A G 2: 25,828,538 (GRCm39) V1062A possibly damaging Het
Cap1 T G 4: 122,756,686 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,385 (GRCm39) Y141H probably damaging Het
Card11 T C 5: 140,892,522 (GRCm39) Y181C probably damaging Het
Ccdc107 T C 4: 43,495,874 (GRCm39) V259A probably benign Het
Ccn4 A G 15: 66,789,258 (GRCm39) E248G possibly damaging Het
Chd9 A G 8: 91,634,619 (GRCm39) probably benign Het
Cibar1 T A 4: 12,171,216 (GRCm39) D79V probably damaging Het
Col12a1 T C 9: 79,553,075 (GRCm39) probably null Het
Cuzd1 T C 7: 130,921,820 (GRCm39) T61A possibly damaging Het
Dbp C A 7: 45,357,700 (GRCm39) D89E probably benign Het
Dhps A T 8: 85,799,240 (GRCm39) N140Y probably damaging Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dnah9 T G 11: 65,846,164 (GRCm39) N2958T probably benign Het
Dpp8 T A 9: 64,986,056 (GRCm39) Y849N probably damaging Het
Dsg2 A G 18: 20,716,061 (GRCm39) probably benign Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Faxc T C 4: 21,958,439 (GRCm39) probably benign Het
Frem3 G T 8: 81,421,966 (GRCm39) C2122F possibly damaging Het
Gan T C 8: 117,914,238 (GRCm39) probably null Het
Gnl1 A G 17: 36,293,850 (GRCm39) N274D probably benign Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Itpr1 C A 6: 108,363,814 (GRCm39) S812Y possibly damaging Het
Kbtbd3 C T 9: 4,317,075 (GRCm39) probably benign Het
Macf1 C T 4: 123,265,711 (GRCm39) A4821T probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msantd5f6 A G 4: 73,321,295 (GRCm39) I154T possibly damaging Het
Myh11 A G 16: 14,050,532 (GRCm39) Y478H probably damaging Het
Myo7b A G 18: 32,118,013 (GRCm39) V871A probably benign Het
Nckap1 A T 2: 80,365,862 (GRCm39) M466K probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4k6 A G 14: 50,475,406 (GRCm39) I312T probably benign Het
Or52r1b A T 7: 102,690,731 (GRCm39) H15L probably benign Het
Or5aq1b T A 2: 86,901,897 (GRCm39) N194Y possibly damaging Het
Or5m13 A C 2: 85,749,114 (GRCm39) S282R probably damaging Het
Or9k2 A G 10: 129,998,604 (GRCm39) I197T probably benign Het
Or9s23 A T 1: 92,501,489 (GRCm39) T199S probably damaging Het
Otof T C 5: 30,578,358 (GRCm39) T97A probably benign Het
Peli2 G A 14: 48,493,602 (GRCm39) E275K probably benign Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Pramel5 A G 4: 143,998,274 (GRCm39) L323P probably damaging Het
Prr5 A T 15: 84,585,580 (GRCm39) R183W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rabgef1 A G 5: 130,237,620 (GRCm39) D231G possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rc3h1 C T 1: 160,782,507 (GRCm39) P662L probably benign Het
Rpl7a-ps5 G T 17: 58,146,090 (GRCm39) Q47K probably benign Het
Sclt1 G A 3: 41,685,323 (GRCm39) T45I probably benign Het
Slc22a17 A G 14: 55,145,543 (GRCm39) I202T probably damaging Het
Slc25a13 A G 6: 6,073,487 (GRCm39) L457S probably damaging Het
Slc44a3 T C 3: 121,257,059 (GRCm39) probably benign Het
Slc7a9 G A 7: 35,153,562 (GRCm39) V188M probably damaging Het
Spata31d1e A G 13: 59,890,401 (GRCm39) M55T possibly damaging Het
Tmem161a T A 8: 70,630,170 (GRCm39) F119I probably damaging Het
Tmem240 A G 4: 155,819,892 (GRCm39) D32G possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Uqcrc1 G A 9: 108,776,083 (GRCm39) V262M probably benign Het
Vmn1r87 G A 7: 12,865,823 (GRCm39) R155C probably damaging Het
Vmn2r100 A T 17: 19,742,334 (GRCm39) Q236L probably benign Het
Vmn2r97 T A 17: 19,149,944 (GRCm39) I444N unknown Het
Yif1a A T 19: 5,139,900 (GRCm39) H115L probably damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null 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
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'- CATTGGGGATTCATAGCTGTAATC -3'
(R):5'- TGTCACAGCTCACATGGCTTC -3'

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