Incidental Mutation 'R5373:Pik3c3'
ID 428899
Institutional Source Beutler Lab
Gene Symbol Pik3c3
Ensembl Gene ENSMUSG00000033628
Gene Name phosphatidylinositol 3-kinase catalytic subunit type 3
Synonyms 5330434F23Rik, Vps34
MMRRC Submission 042949-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5373 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 30405800-30481179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30445614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 534 (S534P)
Ref Sequence ENSEMBL: ENSMUSP00000111478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091978] [ENSMUST00000115811] [ENSMUST00000115812] [ENSMUST00000131405]
AlphaFold Q6PF93
Predicted Effect probably benign
Transcript: ENSMUST00000091978
AA Change: S534P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: S534P

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 530 3.08e-111 SMART
PI3Kc 632 848 1.02e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115811
AA Change: S534P

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: S534P

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 530 3.08e-111 SMART
PI3Kc 632 756 5.33e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115812
AA Change: S534P

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: S534P

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 530 3.08e-111 SMART
PI3Kc 632 884 1.21e-118 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131405
SMART Domains Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 506 1.78e-84 SMART
Meta Mutation Damage Score 0.0882 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (74/77)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display embryonic lethality between implantation and placentation, arrest prior to gastrulation, and show reduced cell proliferation. Mice homozygous for a conditional allele activated in T cells exhibit impaired naive Tcell homeostasis and mitophagy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Abcb5 G T 12: 118,850,912 (GRCm39) T887K probably damaging Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Arpp21 T G 9: 111,896,336 (GRCm39) M687L probably benign Het
Camkv T C 9: 107,824,088 (GRCm39) S221P probably benign Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Chsy1 C T 7: 65,759,824 (GRCm39) Q56* probably null Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,472,824 (GRCm39) I317T probably damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Eml2 A T 7: 18,913,188 (GRCm39) D62V possibly damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Evc2 C T 5: 37,535,554 (GRCm39) R410W probably damaging Het
Fam169b T C 7: 67,950,586 (GRCm39) Y13H probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Fezf2 A T 14: 12,344,803 (GRCm38) V128E possibly damaging Het
Ighv3-5 A G 12: 114,226,573 (GRCm39) S18P probably damaging Het
Kcnq5 T A 1: 22,031,795 (GRCm39) H4L unknown Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Lig1 AG A 7: 13,039,849 (GRCm39) probably null Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Mtfr2 G T 10: 20,228,598 (GRCm39) C48F probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptpn14 T C 1: 189,583,160 (GRCm39) M669T probably benign Het
Ptprf G T 4: 118,083,238 (GRCm39) T923K possibly damaging Het
Ptprg A G 14: 12,213,665 (GRCm38) N1011S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Slc26a7 A T 4: 14,546,447 (GRCm39) I294N probably damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Spata6 T A 4: 111,680,031 (GRCm39) probably null Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Susd5 G A 9: 113,911,653 (GRCm39) G188R probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Vmn1r85 A T 7: 12,818,255 (GRCm39) Y296* probably null Het
Vmn2r71 C T 7: 85,267,750 (GRCm39) T68I possibly damaging Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp85 T C 13: 67,897,577 (GRCm39) Y165C probably damaging Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging Het
Other mutations in Pik3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Pik3c3 APN 18 30,436,131 (GRCm39) splice site probably benign
IGL00743:Pik3c3 APN 18 30,407,417 (GRCm39) missense probably damaging 1.00
IGL01622:Pik3c3 APN 18 30,426,102 (GRCm39) splice site probably benign
IGL01622:Pik3c3 APN 18 30,423,578 (GRCm39) nonsense probably null
IGL01623:Pik3c3 APN 18 30,426,102 (GRCm39) splice site probably benign
IGL01623:Pik3c3 APN 18 30,423,578 (GRCm39) nonsense probably null
IGL01773:Pik3c3 APN 18 30,410,155 (GRCm39) missense probably damaging 1.00
IGL01917:Pik3c3 APN 18 30,407,499 (GRCm39) missense probably damaging 1.00
IGL02033:Pik3c3 APN 18 30,445,703 (GRCm39) missense possibly damaging 0.85
IGL02465:Pik3c3 APN 18 30,477,113 (GRCm39) missense probably damaging 0.97
IGL03161:Pik3c3 APN 18 30,426,760 (GRCm39) missense probably benign 0.37
IGL03221:Pik3c3 APN 18 30,435,984 (GRCm39) missense probably benign 0.45
H8786:Pik3c3 UTSW 18 30,427,396 (GRCm39) missense probably damaging 0.99
R0089:Pik3c3 UTSW 18 30,436,131 (GRCm39) splice site probably benign
R1512:Pik3c3 UTSW 18 30,455,289 (GRCm39) critical splice donor site probably null
R1713:Pik3c3 UTSW 18 30,456,639 (GRCm39) missense possibly damaging 0.73
R1758:Pik3c3 UTSW 18 30,410,063 (GRCm39) missense probably damaging 1.00
R1822:Pik3c3 UTSW 18 30,477,130 (GRCm39) critical splice donor site probably null
R1870:Pik3c3 UTSW 18 30,426,185 (GRCm39) critical splice donor site probably null
R2680:Pik3c3 UTSW 18 30,477,131 (GRCm39) critical splice donor site probably null
R3768:Pik3c3 UTSW 18 30,466,326 (GRCm39) missense probably damaging 1.00
R3926:Pik3c3 UTSW 18 30,444,382 (GRCm39) splice site probably benign
R4154:Pik3c3 UTSW 18 30,444,336 (GRCm39) missense probably benign 0.35
R4293:Pik3c3 UTSW 18 30,477,043 (GRCm39) missense probably damaging 1.00
R4570:Pik3c3 UTSW 18 30,423,603 (GRCm39) missense possibly damaging 0.94
R4858:Pik3c3 UTSW 18 30,477,131 (GRCm39) critical splice donor site probably null
R4893:Pik3c3 UTSW 18 30,415,053 (GRCm39) missense probably benign 0.16
R4901:Pik3c3 UTSW 18 30,435,982 (GRCm39) missense possibly damaging 0.65
R5216:Pik3c3 UTSW 18 30,406,029 (GRCm39) missense probably damaging 1.00
R5358:Pik3c3 UTSW 18 30,456,597 (GRCm39) missense probably damaging 1.00
R5374:Pik3c3 UTSW 18 30,445,614 (GRCm39) missense probably benign 0.40
R5600:Pik3c3 UTSW 18 30,444,346 (GRCm39) missense probably damaging 1.00
R5680:Pik3c3 UTSW 18 30,410,166 (GRCm39) nonsense probably null
R5965:Pik3c3 UTSW 18 30,431,633 (GRCm39) missense probably damaging 1.00
R6492:Pik3c3 UTSW 18 30,457,615 (GRCm39) missense probably damaging 1.00
R6576:Pik3c3 UTSW 18 30,475,794 (GRCm39) intron probably benign
R6700:Pik3c3 UTSW 18 30,449,954 (GRCm39) missense probably benign 0.02
R7523:Pik3c3 UTSW 18 30,426,708 (GRCm39) missense probably damaging 1.00
R7883:Pik3c3 UTSW 18 30,407,416 (GRCm39) missense probably benign 0.04
R7884:Pik3c3 UTSW 18 30,445,624 (GRCm39) missense probably benign 0.00
R7886:Pik3c3 UTSW 18 30,452,641 (GRCm39) nonsense probably null
R8075:Pik3c3 UTSW 18 30,438,082 (GRCm39) missense probably damaging 0.99
R9163:Pik3c3 UTSW 18 30,427,483 (GRCm39) critical splice donor site probably null
R9246:Pik3c3 UTSW 18 30,466,364 (GRCm39) missense probably damaging 1.00
R9311:Pik3c3 UTSW 18 30,445,666 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCCTGTTGTGTCACATGGTC -3'
(R):5'- ACAGAGCATGTAAGAAACTGTCCC -3'

Sequencing Primer
(F):5'- GCTCAGGACCCAGGTAATTTTC -3'
(R):5'- GCATGTAAGAAACTGTCCCTAAAAAG -3'
Posted On 2016-09-06