Incidental Mutation 'R1875:Pik3c2a'
ID 211144
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 039897-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1875 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116017206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 184 (S184T)
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: S184T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: S184T

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: ENSMUST00000205378
AA Change: S184T

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205767
Predicted Effect probably benign
Transcript: ENSMUST00000206219
AA Change: S184T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 98% (85/87)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,847,190 (GRCm39) M685L possibly damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam26a C A 8: 44,022,888 (GRCm39) V201L probably benign Het
Adamts20 G T 15: 94,229,277 (GRCm39) D947E probably benign Het
Ankrd26 A G 6: 118,517,410 (GRCm39) probably null Het
Apol11a C A 15: 77,397,766 (GRCm39) T39N possibly damaging Het
Arhgef38 T A 3: 132,839,501 (GRCm39) probably null Het
Armh4 T C 14: 49,919,815 (GRCm39) D772G probably damaging Het
Atp11b T C 3: 35,893,296 (GRCm39) L883P probably damaging Het
Btnl10 T A 11: 58,814,586 (GRCm39) I422N probably damaging Het
C2cd3 A G 7: 100,056,232 (GRCm39) K547E possibly damaging Het
Cdh2 T A 18: 16,757,934 (GRCm39) L549F probably benign Het
Celsr3 T C 9: 108,713,037 (GRCm39) V1825A probably benign Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cimap2 G A 4: 106,470,453 (GRCm39) probably benign Het
Csmd1 T C 8: 15,979,101 (GRCm39) K2828E probably damaging Het
Ddah2 T C 17: 35,279,821 (GRCm39) F137S probably damaging Het
Ddx21 A G 10: 62,429,847 (GRCm39) I299T probably damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Elmod1 A G 9: 53,843,151 (GRCm39) I9T probably benign Het
Epha2 A G 4: 141,036,290 (GRCm39) E242G probably benign Het
Erbb3 T C 10: 128,410,335 (GRCm39) H641R possibly damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fli1 T C 9: 32,335,209 (GRCm39) M408V probably benign Het
Fmo4 T C 1: 162,631,187 (GRCm39) N260S possibly damaging Het
Fry A G 5: 150,249,597 (GRCm39) E136G probably damaging Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gm8258 A G 5: 104,924,320 (GRCm39) noncoding transcript Het
Gpr68 T A 12: 100,845,049 (GRCm39) D165V probably damaging Het
Htt T A 5: 34,951,456 (GRCm39) M139K probably benign Het
Jup A G 11: 100,263,120 (GRCm39) probably null Het
Kifc5b G A 17: 27,136,264 (GRCm39) probably null Het
Krba1 T A 6: 48,390,983 (GRCm39) probably null Het
Lamp1 G A 8: 13,217,257 (GRCm39) G89R probably damaging Het
Lrrc17 C T 5: 21,765,650 (GRCm39) S44F possibly damaging Het
Mdga1 T C 17: 30,071,581 (GRCm39) T347A probably damaging Het
Mical3 A T 6: 121,019,025 (GRCm39) W66R probably damaging Het
Mpl A G 4: 118,314,026 (GRCm39) Y73H probably benign Het
Mterf1b T A 5: 4,247,364 (GRCm39) I335N possibly damaging Het
Mylk3 A G 8: 86,079,494 (GRCm39) I388T probably damaging Het
Myo15a C T 11: 60,398,354 (GRCm39) R2775W probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Ndrg1 T C 15: 66,802,940 (GRCm39) T137A possibly damaging Het
Neil3 G T 8: 54,052,454 (GRCm39) N381K probably damaging Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Or2b4 A G 17: 38,115,996 (GRCm39) probably benign Het
Or6b6 G A 7: 106,571,389 (GRCm39) S54F possibly damaging Het
Otogl T C 10: 107,735,451 (GRCm39) D111G probably damaging Het
Parp10 T C 15: 76,127,051 (GRCm39) E103G probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pcdh18 A T 3: 49,709,154 (GRCm39) F720L probably damaging Het
Phf3 T C 1: 30,869,704 (GRCm39) E448G possibly damaging Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Pkd1l1 A G 11: 8,794,670 (GRCm39) probably benign Het
Plch2 G A 4: 155,082,965 (GRCm39) S485F probably damaging Het
Plxnd1 G T 6: 115,955,045 (GRCm39) probably null Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Prl8a2 T C 13: 27,535,037 (GRCm39) V103A probably benign Het
Psg23 G A 7: 18,344,375 (GRCm39) T360I probably benign Het
Rad51c A T 11: 87,279,469 (GRCm39) I323N probably damaging Het
Rsbn1l C T 5: 21,156,696 (GRCm39) E30K probably benign Het
Serpina3c C A 12: 104,118,145 (GRCm39) L64F probably damaging Het
Shroom1 A G 11: 53,356,502 (GRCm39) D392G probably damaging Het
Slc26a5 T A 5: 22,020,725 (GRCm39) I540L probably benign Het
Slc37a4 A G 9: 44,312,808 (GRCm39) T321A probably damaging Het
Slc41a2 A G 10: 83,091,949 (GRCm39) L438S probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Spef2 C T 15: 9,597,487 (GRCm39) G1390R possibly damaging Het
Spmap2l A T 5: 77,202,431 (GRCm39) K284M probably benign Het
Synj2 G T 17: 6,078,825 (GRCm39) A740S possibly damaging Het
Tigd4 A C 3: 84,502,394 (GRCm39) D437A probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem106a CAGCTCAACACGACGGTA CAGCTCAACACGACGGTAAGCTCAACACGACGGTA 11: 101,477,204 (GRCm39) probably benign Het
Tmem131l A T 3: 83,812,383 (GRCm39) C1313* probably null Het
Tmem86b A T 7: 4,632,698 (GRCm39) I47N possibly damaging Het
Tspan13 T C 12: 36,070,550 (GRCm39) probably null Het
Vps54 A G 11: 21,250,251 (GRCm39) T396A probably benign Het
Zfp106 A T 2: 120,344,096 (GRCm39) probably null Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null Het
Zfp809 A T 9: 22,150,027 (GRCm39) R175* 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
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
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'- TTGCAGACTGAAGCTTTCGAG -3'
(R):5'- AGCCCTTCGTTCTCAACACAG -3'

Sequencing Primer
(F):5'- CAGACTGAAGCTTTCGAGTTTGC -3'
(R):5'- CACAGCTGTATCTTAGACCTAGTGG -3'
Posted On 2014-06-30