Incidental Mutation 'IGL01637:Pik3r2'
ID 93086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3r2
Ensembl Gene ENSMUSG00000031834
Gene Name phosphoinositide-3-kinase regulatory subunit 2
Synonyms p85beta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01637
Quality Score
Status
Chromosome 8
Chromosomal Location 71220820-71229357 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 71224992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000143785]
AlphaFold O08908
Predicted Effect probably benign
Transcript: ENSMUST00000034296
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834

DomainStartEndE-ValueType
SH3 7 79 4e-7 SMART
RhoGAP 122 286 2.36e-18 SMART
low complexity region 291 311 N/A INTRINSIC
SH2 322 405 4.51e-26 SMART
Pfam:PI3K_P85_iSH2 422 590 1.7e-64 PFAM
SH2 614 696 9.96e-28 SMART
low complexity region 713 718 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142370
Predicted Effect probably benign
Transcript: ENSMUST00000143785
SMART Domains Protein: ENSMUSP00000122065
Gene: ENSMUSG00000031834

DomainStartEndE-ValueType
Blast:RhoGAP 1 30 1e-8 BLAST
Pfam:SH2 33 70 4.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152545
Predicted Effect probably benign
Transcript: ENSMUST00000154685
SMART Domains Protein: ENSMUSP00000121463
Gene: ENSMUSG00000031834

DomainStartEndE-ValueType
PDB:2XS6|A 43 84 3e-11 PDB
SCOP:d1pbwa_ 47 79 6e-9 SMART
Blast:RhoGAP 58 84 4e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191396
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene have lower blood glucose levels both when fed and after fasting. Insulin sensitivity is improved as well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,604,109 (GRCm39) I384N probably damaging Het
Adsl G T 15: 80,832,901 (GRCm39) Q51H probably null Het
Apcdd1 A G 18: 63,070,357 (GRCm39) E208G probably damaging Het
Arrdc4 G A 7: 68,394,580 (GRCm39) R155* probably null Het
Atp9b T C 18: 80,799,670 (GRCm39) E823G probably benign Het
Bmp1 A G 14: 70,729,901 (GRCm39) W468R probably damaging Het
C6 A G 15: 4,789,399 (GRCm39) I281M possibly damaging Het
Ccdc88b T C 19: 6,824,078 (GRCm39) T1392A probably benign Het
Dhx34 G T 7: 15,939,398 (GRCm39) S665Y probably damaging Het
Dock1 A T 7: 134,739,542 (GRCm39) probably null Het
Dpp7 T C 2: 25,244,625 (GRCm39) N252S probably benign Het
Dyrk2 A G 10: 118,696,412 (GRCm39) V282A probably damaging Het
Edrf1 T C 7: 133,252,254 (GRCm39) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm39) V150A probably benign Het
Fam170a A T 18: 50,414,734 (GRCm39) M127L possibly damaging Het
Gabrg1 T A 5: 70,934,548 (GRCm39) T277S probably damaging Het
Galntl5 T C 5: 25,394,823 (GRCm39) probably benign Het
Gbp2b A G 3: 142,304,073 (GRCm39) N56S probably damaging Het
Gfm2 T A 13: 97,286,917 (GRCm39) V172E probably damaging Het
Gm10419 T C 5: 108,520,224 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,906 (GRCm39) noncoding transcript Het
Gstm3 T C 3: 107,874,949 (GRCm39) E101G probably damaging Het
Ifnlr1 T C 4: 135,413,856 (GRCm39) W2R possibly damaging Het
Ighv13-1 A T 12: 114,231,353 (GRCm39) probably benign Het
Ighv7-1 T A 12: 113,860,123 (GRCm39) I90F possibly damaging Het
Itga2b A G 11: 102,346,409 (GRCm39) L1009P probably damaging Het
Kif1a A G 1: 92,967,575 (GRCm39) V1112A possibly damaging Het
Kif5a A T 10: 127,081,237 (GRCm39) D232E possibly damaging Het
Klb G A 5: 65,533,022 (GRCm39) probably null Het
Lrriq1 G A 10: 103,051,489 (GRCm39) A421V probably benign Het
Mdga1 G A 17: 30,058,845 (GRCm39) R721C probably damaging Het
Mrpl48 G T 7: 100,199,739 (GRCm39) probably benign Het
Myo18b T A 5: 112,988,495 (GRCm39) R1030S possibly damaging Het
Nf1 T A 11: 79,437,946 (GRCm39) H2101Q probably damaging Het
Nlrp3 C A 11: 59,440,204 (GRCm39) L594I probably damaging Het
Notch2 C T 3: 98,053,376 (GRCm39) T2013I probably damaging Het
Or2ah1 A T 2: 85,653,332 (GRCm39) T6S probably benign Het
Or2y3 G A 17: 38,392,994 (GRCm39) L292F possibly damaging Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c216 A G 10: 129,678,479 (GRCm39) L144P probably benign Het
Or7g27 T C 9: 19,250,260 (GRCm39) F168S probably damaging Het
Panx3 T C 9: 37,575,352 (GRCm39) D170G probably damaging Het
Pclo A G 5: 14,590,048 (GRCm39) S783G unknown Het
Pde3b T A 7: 114,126,136 (GRCm39) L790* probably null Het
Rassf4 A G 6: 116,618,651 (GRCm39) F211L probably damaging Het
Rbl2 C T 8: 91,833,066 (GRCm39) P666S probably benign Het
Rnf123 A G 9: 107,935,437 (GRCm39) F979L probably damaging Het
Rock2 T A 12: 17,015,172 (GRCm39) D788E probably benign Het
Serpina3b A G 12: 104,099,216 (GRCm39) T244A probably benign Het
Setd1b T C 5: 123,286,576 (GRCm39) S541P unknown Het
Slc12a4 T C 8: 106,687,339 (GRCm39) D60G possibly damaging Het
Stac2 T C 11: 97,932,180 (GRCm39) E241G probably benign Het
Tafa3 C T 3: 104,680,395 (GRCm39) V75M probably damaging Het
Tas2r115 A G 6: 132,714,592 (GRCm39) Y120H probably damaging Het
Tmtc2 A T 10: 105,205,946 (GRCm39) F450I probably benign Het
Txnl1 A T 18: 63,807,262 (GRCm39) I198N probably damaging Het
Ubr2 A T 17: 47,267,580 (GRCm39) M1049K probably damaging Het
Ugt2b5 T C 5: 87,287,759 (GRCm39) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm39) T3623I probably damaging Het
Usp13 T A 3: 32,973,213 (GRCm39) S797T probably benign Het
Vmn1r173 A T 7: 23,402,373 (GRCm39) T203S probably damaging Het
Vwf T A 6: 125,622,699 (GRCm39) I1718N probably damaging Het
Zfr A G 15: 12,159,732 (GRCm39) H676R probably benign Het
Other mutations in Pik3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pik3r2 APN 8 71,223,073 (GRCm39) missense probably damaging 1.00
IGL02514:Pik3r2 APN 8 71,223,236 (GRCm39) missense probably benign 0.00
IGL03395:Pik3r2 APN 8 71,224,999 (GRCm39) missense probably benign
kingfisher UTSW 8 71,223,545 (GRCm39) missense probably damaging 1.00
R0022:Pik3r2 UTSW 8 71,223,545 (GRCm39) missense probably damaging 1.00
R0022:Pik3r2 UTSW 8 71,223,545 (GRCm39) missense probably damaging 1.00
R0448:Pik3r2 UTSW 8 71,224,688 (GRCm39) unclassified probably benign
R1636:Pik3r2 UTSW 8 71,224,542 (GRCm39) missense probably benign
R1662:Pik3r2 UTSW 8 71,223,250 (GRCm39) missense probably damaging 1.00
R2114:Pik3r2 UTSW 8 71,222,029 (GRCm39) missense probably benign 0.31
R2879:Pik3r2 UTSW 8 71,225,029 (GRCm39) missense probably benign
R3830:Pik3r2 UTSW 8 71,223,065 (GRCm39) missense probably benign 0.19
R3852:Pik3r2 UTSW 8 71,223,065 (GRCm39) missense probably benign 0.19
R3859:Pik3r2 UTSW 8 71,222,630 (GRCm39) missense probably damaging 1.00
R3967:Pik3r2 UTSW 8 71,223,065 (GRCm39) missense probably benign 0.19
R3968:Pik3r2 UTSW 8 71,223,065 (GRCm39) missense probably benign 0.19
R3969:Pik3r2 UTSW 8 71,223,065 (GRCm39) missense probably benign 0.19
R3970:Pik3r2 UTSW 8 71,223,065 (GRCm39) missense probably benign 0.19
R4606:Pik3r2 UTSW 8 71,224,780 (GRCm39) nonsense probably null
R4666:Pik3r2 UTSW 8 71,221,503 (GRCm39) missense possibly damaging 0.93
R5481:Pik3r2 UTSW 8 71,222,408 (GRCm39) missense probably benign 0.31
R6445:Pik3r2 UTSW 8 71,224,670 (GRCm39) missense probably benign 0.01
R6578:Pik3r2 UTSW 8 71,225,283 (GRCm39) missense probably benign 0.00
R6667:Pik3r2 UTSW 8 71,221,817 (GRCm39) missense probably damaging 1.00
R6794:Pik3r2 UTSW 8 71,223,361 (GRCm39) missense probably benign 0.43
R6863:Pik3r2 UTSW 8 71,223,058 (GRCm39) missense probably damaging 1.00
R7378:Pik3r2 UTSW 8 71,222,025 (GRCm39) missense probably benign 0.03
R7750:Pik3r2 UTSW 8 71,223,545 (GRCm39) missense probably damaging 1.00
R7821:Pik3r2 UTSW 8 71,222,408 (GRCm39) missense probably damaging 1.00
R8056:Pik3r2 UTSW 8 71,225,011 (GRCm39) missense probably benign 0.14
R8237:Pik3r2 UTSW 8 71,224,794 (GRCm39) missense probably benign 0.00
R8414:Pik3r2 UTSW 8 71,223,079 (GRCm39) missense probably damaging 1.00
R8534:Pik3r2 UTSW 8 71,227,312 (GRCm39) missense probably benign
R8781:Pik3r2 UTSW 8 71,222,046 (GRCm39) missense possibly damaging 0.88
R8794:Pik3r2 UTSW 8 71,224,007 (GRCm39) missense probably benign
R9322:Pik3r2 UTSW 8 71,227,494 (GRCm39) missense possibly damaging 0.74
R9401:Pik3r2 UTSW 8 71,223,737 (GRCm39) missense possibly damaging 0.77
R9668:Pik3r2 UTSW 8 71,221,459 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09