Incidental Mutation 'R9100:Pik3ca'
ID 691597
Institutional Source Beutler Lab
Gene Symbol Pik3ca
Ensembl Gene ENSMUSG00000027665
Gene Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Synonyms 6330412C24Rik, caPI3K, p110alpha
MMRRC Submission 068914-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9100 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32451203-32520256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32514168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 885 (N885D)
Ref Sequence ENSEMBL: ENSMUSP00000029201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029201] [ENSMUST00000108242] [ENSMUST00000108243]
AlphaFold P42337
PDB Structure Crystal structure of p110alpha in complex with iSH2 of p85alpha and the inhibitor PIK-108 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000029201
AA Change: N885D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: N885D

DomainStartEndE-ValueType
PI3K_p85B 31 108 3.03e-46 SMART
PI3K_rbd 173 292 5e-47 SMART
PI3K_C2 322 425 2.39e-35 SMART
C2 333 441 3.95e-1 SMART
PI3Ka 518 704 8.35e-99 SMART
Blast:PI3Kc 733 766 1e-11 BLAST
PI3Kc 798 1065 8.82e-130 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108242
AA Change: N763D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: N763D

DomainStartEndE-ValueType
PI3K_rbd 51 170 5e-47 SMART
PI3K_C2 200 303 2.39e-35 SMART
C2 211 319 3.95e-1 SMART
PI3Ka 396 582 8.35e-99 SMART
Blast:PI3Kc 611 644 1e-11 BLAST
PI3Kc 676 943 8.82e-130 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108243
AA Change: N885D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: N885D

DomainStartEndE-ValueType
PI3K_p85B 31 108 3.03e-46 SMART
PI3K_rbd 173 292 5e-47 SMART
PI3K_C2 322 425 2.39e-35 SMART
C2 333 441 3.95e-1 SMART
PI3Ka 518 704 8.35e-99 SMART
Blast:PI3Kc 733 766 1e-11 BLAST
PI3Kc 798 1065 8.82e-130 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (75/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,853,800 (GRCm39) V444A possibly damaging Het
Add1 T A 5: 34,770,622 (GRCm39) probably benign Het
Adgrg3 A G 8: 95,762,891 (GRCm39) probably benign Het
Adgrl3 A C 5: 81,842,299 (GRCm39) Q809P possibly damaging Het
Ankmy2 T C 12: 36,236,806 (GRCm39) C205R probably damaging Het
Atp6v1b2 A G 8: 69,541,476 (GRCm39) N11S Het
B3gnt6 T A 7: 97,843,958 (GRCm39) M1L not run Het
Bltp1 A G 3: 37,098,907 (GRCm39) K1256R Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdca8 T C 4: 124,830,238 (GRCm39) T45A probably benign Het
Ces2b C A 8: 105,558,221 (GRCm39) probably benign Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot3 A G 7: 3,661,192 (GRCm39) D567G probably benign Het
Cnot6l T C 5: 96,230,875 (GRCm39) D364G probably damaging Het
Cpped1 A G 16: 11,646,419 (GRCm39) V111A Het
Cstdc4 T A 16: 36,008,285 (GRCm39) M57K possibly damaging Het
Cyp11b2 T C 15: 74,722,995 (GRCm39) K468E probably damaging Het
Dpp4 T G 2: 62,204,733 (GRCm39) T245P possibly damaging Het
Efcab15 T C 11: 103,090,893 (GRCm39) T151A probably benign Het
Fat2 A G 11: 55,153,347 (GRCm39) W3622R probably damaging Het
Fat4 A C 3: 39,064,803 (GRCm39) K4920Q Het
Frmpd2 A G 14: 33,252,407 (GRCm39) I656M probably benign Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gde1 C T 7: 118,294,305 (GRCm39) R166H probably benign Het
Gdf7 A T 12: 8,348,652 (GRCm39) F215Y unknown Het
Gdpgp1 A G 7: 79,888,282 (GRCm39) I104M probably benign Het
Gldc A G 19: 30,077,314 (GRCm39) S953P possibly damaging Het
Golga3 C T 5: 110,337,544 (GRCm39) H411Y probably benign Het
Gpn1 G T 5: 31,655,740 (GRCm39) R101I probably damaging Het
Itgb5 T A 16: 33,740,551 (GRCm39) S554T possibly damaging Het
Klhl1 G A 14: 96,584,364 (GRCm39) L289F probably damaging Het
Klhl13 C T X: 23,113,733 (GRCm39) R95Q probably benign Het
Kmt2d G C 15: 98,747,832 (GRCm39) T3164R unknown Het
Knl1 T C 2: 118,899,469 (GRCm39) V390A probably benign Het
Krtap5-2 GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA GCCACAGCCCCCACAGGAACTACA 7: 141,728,836 (GRCm39) probably benign Het
Lamtor4 G A 5: 138,254,595 (GRCm39) probably benign Het
Lonrf1 AGGCGGCGGCGGCGG AGGCGGCGGCGG 8: 36,715,919 (GRCm39) probably benign Het
Ltbp1 C T 17: 75,622,102 (GRCm39) L829F probably benign Het
Ltbp1 T A 17: 75,622,103 (GRCm39) L829H probably damaging Het
Mrgpra1 C T 7: 46,984,732 (GRCm39) E316K probably damaging Het
Muc16 T A 9: 18,556,966 (GRCm39) H3109L unknown Het
Nck1 T C 9: 100,377,561 (GRCm39) E368G probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nus1 A T 10: 52,305,287 (GRCm39) probably null Het
Nxph2 T C 2: 23,289,780 (GRCm39) V44A probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Or4f56 A G 2: 111,703,606 (GRCm39) M198T possibly damaging Het
Or4k35 A G 2: 111,100,094 (GRCm39) L206P probably benign Het
Or4z4 G T 19: 12,076,254 (GRCm39) H250N probably benign Het
Or5d35 T C 2: 87,855,330 (GRCm39) I88T probably benign Het
Or5m11b A G 2: 85,806,096 (GRCm39) K170E probably benign Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Otof T C 5: 30,539,696 (GRCm39) D1039G possibly damaging Het
Parpbp T A 10: 87,968,969 (GRCm39) Q159L possibly damaging Het
Per2 A T 1: 91,351,464 (GRCm39) L1014Q possibly damaging Het
Pik3ap1 C G 19: 41,312,924 (GRCm39) silent Het
Pip5k1c T C 10: 81,145,056 (GRCm39) V299A probably benign Het
Polr3h A T 15: 81,806,717 (GRCm39) probably benign Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel23 T G 4: 143,425,727 (GRCm39) N72T probably benign Het
Pus3 C A 9: 35,476,946 (GRCm39) Q248K probably benign Het
Sectm1a T A 11: 120,960,569 (GRCm39) Q82L possibly damaging Het
Sema3e A G 5: 14,282,208 (GRCm39) Y448C probably damaging Het
Slc12a4 A T 8: 106,675,774 (GRCm39) S584T probably benign Het
Slc25a40 T C 5: 8,499,613 (GRCm39) F249L probably benign Het
St3gal6 T A 16: 58,306,793 (GRCm39) N79I Het
Stxbp4 A T 11: 90,426,320 (GRCm39) I496K possibly damaging Het
Sulf1 A G 1: 12,878,118 (GRCm39) Y202C probably damaging Het
Swt1 A G 1: 151,299,256 (GRCm39) probably null Het
Tdrd6 T C 17: 43,936,305 (GRCm39) Y1581C possibly damaging Het
Tenm4 G C 7: 96,495,061 (GRCm39) G1163A probably damaging Het
Tlr4 A G 4: 66,758,518 (GRCm39) E437G probably benign Het
Txnrd2 A T 16: 18,256,315 (GRCm39) H101L probably damaging Het
Uba3 A T 6: 97,163,671 (GRCm39) V306E probably damaging Het
Unc5b T C 10: 60,604,152 (GRCm39) Q814R probably damaging Het
Vamp5 T G 6: 72,347,304 (GRCm39) E5A possibly damaging Het
Vmn1r69 T A 7: 10,314,064 (GRCm39) R222S probably damaging Het
Zfp507 G A 7: 35,494,446 (GRCm39) T199I probably benign Het
Zfyve19 T G 2: 119,041,718 (GRCm39) L95R probably benign Het
Other mutations in Pik3ca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Pik3ca APN 3 32,516,733 (GRCm39) missense probably damaging 1.00
IGL01894:Pik3ca APN 3 32,504,175 (GRCm39) missense possibly damaging 0.91
IGL03118:Pik3ca APN 3 32,514,084 (GRCm39) missense probably damaging 1.00
IGL03184:Pik3ca APN 3 32,494,035 (GRCm39) missense probably benign 0.27
IGL03401:Pik3ca APN 3 32,491,963 (GRCm39) splice site probably null
Interrupted UTSW 3 32,492,211 (GRCm39) missense probably damaging 1.00
Lilfella UTSW 3 32,508,569 (GRCm39) missense probably damaging 1.00
Peninsular UTSW 3 32,516,970 (GRCm39) missense probably benign 0.38
Severed UTSW 3 32,492,076 (GRCm39) missense possibly damaging 0.65
R0084:Pik3ca UTSW 3 32,516,937 (GRCm39) missense possibly damaging 0.78
R0116:Pik3ca UTSW 3 32,514,094 (GRCm39) missense probably damaging 1.00
R0278:Pik3ca UTSW 3 32,493,902 (GRCm39) missense possibly damaging 0.60
R0513:Pik3ca UTSW 3 32,515,660 (GRCm39) missense probably damaging 1.00
R0543:Pik3ca UTSW 3 32,504,410 (GRCm39) critical splice acceptor site probably null
R0622:Pik3ca UTSW 3 32,490,701 (GRCm39) missense probably damaging 1.00
R0630:Pik3ca UTSW 3 32,504,176 (GRCm39) missense possibly damaging 0.91
R1193:Pik3ca UTSW 3 32,510,242 (GRCm39) missense probably damaging 0.99
R1292:Pik3ca UTSW 3 32,508,569 (GRCm39) missense probably damaging 1.00
R1464:Pik3ca UTSW 3 32,515,990 (GRCm39) missense probably damaging 1.00
R1464:Pik3ca UTSW 3 32,515,990 (GRCm39) missense probably damaging 1.00
R1869:Pik3ca UTSW 3 32,504,499 (GRCm39) missense probably damaging 0.99
R1962:Pik3ca UTSW 3 32,498,016 (GRCm39) missense probably benign 0.27
R1969:Pik3ca UTSW 3 32,505,903 (GRCm39) critical splice acceptor site probably null
R2006:Pik3ca UTSW 3 32,504,206 (GRCm39) missense probably damaging 1.00
R2264:Pik3ca UTSW 3 32,492,076 (GRCm39) missense possibly damaging 0.65
R2366:Pik3ca UTSW 3 32,516,943 (GRCm39) nonsense probably null
R2680:Pik3ca UTSW 3 32,498,034 (GRCm39) missense probably benign 0.00
R2680:Pik3ca UTSW 3 32,490,697 (GRCm39) nonsense probably null
R3001:Pik3ca UTSW 3 32,516,946 (GRCm39) missense probably damaging 1.00
R3002:Pik3ca UTSW 3 32,516,946 (GRCm39) missense probably damaging 1.00
R4303:Pik3ca UTSW 3 32,494,084 (GRCm39) nonsense probably null
R4416:Pik3ca UTSW 3 32,515,679 (GRCm39) missense probably damaging 0.99
R4758:Pik3ca UTSW 3 32,492,127 (GRCm39) missense probably benign 0.20
R4822:Pik3ca UTSW 3 32,492,131 (GRCm39) missense probably benign 0.04
R4856:Pik3ca UTSW 3 32,491,312 (GRCm39) missense probably damaging 1.00
R4886:Pik3ca UTSW 3 32,491,312 (GRCm39) missense probably damaging 1.00
R5297:Pik3ca UTSW 3 32,504,202 (GRCm39) missense probably damaging 1.00
R5636:Pik3ca UTSW 3 32,515,709 (GRCm39) missense probably damaging 1.00
R5663:Pik3ca UTSW 3 32,516,928 (GRCm39) missense probably damaging 1.00
R6249:Pik3ca UTSW 3 32,515,712 (GRCm39) missense probably damaging 1.00
R6264:Pik3ca UTSW 3 32,494,863 (GRCm39) critical splice donor site probably null
R6347:Pik3ca UTSW 3 32,516,970 (GRCm39) missense probably benign 0.38
R6538:Pik3ca UTSW 3 32,493,853 (GRCm39) missense probably damaging 1.00
R7020:Pik3ca UTSW 3 32,490,428 (GRCm39) missense probably damaging 0.97
R7720:Pik3ca UTSW 3 32,490,367 (GRCm39) missense probably damaging 1.00
R7864:Pik3ca UTSW 3 32,497,762 (GRCm39) nonsense probably null
R8218:Pik3ca UTSW 3 32,491,996 (GRCm39) missense possibly damaging 0.74
R8478:Pik3ca UTSW 3 32,505,997 (GRCm39) missense probably benign
R9169:Pik3ca UTSW 3 32,503,755 (GRCm39) critical splice donor site probably null
R9255:Pik3ca UTSW 3 32,496,981 (GRCm39) critical splice donor site probably null
R9267:Pik3ca UTSW 3 32,492,211 (GRCm39) missense probably damaging 1.00
R9278:Pik3ca UTSW 3 32,508,587 (GRCm39) missense probably damaging 1.00
R9501:Pik3ca UTSW 3 32,504,062 (GRCm39) missense probably damaging 1.00
R9555:Pik3ca UTSW 3 32,505,916 (GRCm39) missense probably damaging 1.00
Z1177:Pik3ca UTSW 3 32,492,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCTGTTTTAAGATTCTGCCT -3'
(R):5'- AACTGGTACACATGTTCATTTTGT -3'

Sequencing Primer
(F):5'- AAGATTCTGCCTTTGTCAATTTCCAG -3'
(R):5'- GGGTCCACCAAAGCAATT -3'
Posted On 2021-12-30