Incidental Mutation 'R3969:Pik3r2'
ID 310879
Institutional Source Beutler Lab
Gene Symbol Pik3r2
Ensembl Gene ENSMUSG00000031834
Gene Name phosphoinositide-3-kinase regulatory subunit 2
Synonyms p85beta
MMRRC Submission 040937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3969 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 71220820-71229357 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71223065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 452 (R452C)
Ref Sequence ENSEMBL: ENSMUSP00000034296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000143785]
AlphaFold O08908
PDB Structure CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034296
AA Change: R452C

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: R452C

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: ENSMUST00000034299
SMART Domains Protein: ENSMUSP00000034299
Gene: ENSMUSG00000031838

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:GILT 60 163 4e-33 PFAM
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 noncoding transcript
Transcript: ENSMUST00000212384
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: ENSMUST00000222087
Meta Mutation Damage Score 0.4834 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,835,846 (GRCm39) K60E probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Camk2d G T 3: 126,590,608 (GRCm39) C273F possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Chia1 T G 3: 106,028,951 (GRCm39) probably null Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cpeb4 T C 11: 31,822,811 (GRCm39) I175T possibly damaging Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Faap100 A T 11: 120,269,531 (GRCm39) M1K probably null Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Fryl A T 5: 73,269,766 (GRCm39) S396R probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Habp2 A G 19: 56,300,133 (GRCm39) Y194C probably damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Irf5 A T 6: 29,536,781 (GRCm39) Q497H probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Lins1 C T 7: 66,357,946 (GRCm39) T27I probably benign Het
Ncstn A C 1: 171,897,576 (GRCm39) V439G probably damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Nol8 A T 13: 49,813,492 (GRCm39) K162* probably null Het
Or7g21 A G 9: 19,032,956 (GRCm39) E232G probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pole3 G T 4: 62,443,198 (GRCm39) N12K possibly damaging Het
Prl2a1 A G 13: 27,990,263 (GRCm39) S71G probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,738 (GRCm39) V496A probably benign Het
Slc26a1 A G 5: 108,821,818 (GRCm39) S24P probably benign Het
Tspoap1 A T 11: 87,653,272 (GRCm39) N113Y probably damaging Het
Usp17lc A T 7: 103,067,626 (GRCm39) H307L probably damaging Het
Vmn2r79 T C 7: 86,652,801 (GRCm39) W498R probably damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Wwc2 T C 8: 48,309,358 (GRCm39) D808G unknown Het
Ybx2 G A 11: 69,831,242 (GRCm39) R84Q probably damaging Het
Zfp462 C T 4: 55,012,402 (GRCm39) S308F probably damaging Het
Other mutations in Pik3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pik3r2 APN 8 71,223,073 (GRCm39) missense probably damaging 1.00
IGL01637:Pik3r2 APN 8 71,224,992 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACCTAGATTTGTAAGAAGCACTGG -3'
(R):5'- ATCACTGGCCCAGTACAACG -3'

Sequencing Primer
(F):5'- TTTGTAAGAAGCACTGGGAGGAAATG -3'
(R):5'- CTGTGTCCAAGTACCAACAAGTGTG -3'
Posted On 2015-04-29