Incidental Mutation 'R2879:Pik3r2'
ID 260233
Institutional Source Beutler Lab
Gene Symbol Pik3r2
Ensembl Gene ENSMUSG00000031834
Gene Name phosphoinositide-3-kinase regulatory subunit 2
Synonyms p85beta
MMRRC Submission 040467-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2879 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 71220820-71229357 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71225029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 145 (Y145H)
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: Y145H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: Y145H

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 unknown
Transcript: ENSMUST00000154685
AA Change: Y80H
SMART Domains Protein: ENSMUSP00000121463
Gene: ENSMUSG00000031834
AA Change: Y80H

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: ENSMUST00000191396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212384
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Acte1 T A 7: 143,447,800 (GRCm39) Y214* probably null Het
Akap9 A G 5: 4,026,353 (GRCm39) probably benign Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Arhgef10l G T 4: 140,242,598 (GRCm39) H890Q probably benign Het
Ccnj T A 19: 40,833,158 (GRCm39) L112Q probably damaging Het
Chaf1a T C 17: 56,351,114 (GRCm39) probably null Het
Chchd4 A G 6: 91,442,200 (GRCm39) S73P probably damaging Het
Chd3 T C 11: 69,254,924 (GRCm39) K139E possibly damaging Het
Cyp2b13 T G 7: 25,785,456 (GRCm39) probably null Het
Dagla T C 19: 10,248,448 (GRCm39) I71V possibly damaging Het
Epor A T 9: 21,870,936 (GRCm39) W315R probably damaging Het
Etv1 T A 12: 38,833,809 (GRCm39) probably null Het
Fbn2 A T 18: 58,202,314 (GRCm39) C1280S probably damaging Het
Fbxo2 G C 4: 148,250,468 (GRCm39) R269P probably damaging Het
Fer1l4 A T 2: 155,894,120 (GRCm39) L61Q probably damaging Het
Ggnbp2 C T 11: 84,723,797 (GRCm39) probably null Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Ibsp G A 5: 104,458,260 (GRCm39) E266K possibly damaging Het
Lamb3 T A 1: 193,013,092 (GRCm39) M439K possibly damaging Het
Lnx1 C T 5: 74,780,784 (GRCm39) V246M probably benign Het
Lrrc32 A G 7: 98,148,984 (GRCm39) Q588R probably benign Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Med13 C T 11: 86,189,988 (GRCm39) A974T possibly damaging Het
Mogat2 A T 7: 98,871,573 (GRCm39) I246N possibly damaging Het
Myl2 T C 5: 122,242,748 (GRCm39) probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or1p1c T A 11: 74,161,049 (GRCm39) V278D probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Plg A G 17: 12,622,987 (GRCm39) E509G possibly damaging Het
Pnkp T A 7: 44,508,102 (GRCm39) S142T probably damaging Het
Ros1 C T 10: 52,048,936 (GRCm39) probably null Het
Sbno1 A G 5: 124,526,635 (GRCm39) M960T probably damaging Het
Smad1 T C 8: 80,080,084 (GRCm39) probably null Het
Ssc5d G A 7: 4,939,906 (GRCm39) probably null Het
Tfcp2 C T 15: 100,449,201 (GRCm39) probably null Het
Tmem121 A G 12: 113,152,028 (GRCm39) Y82C probably damaging Het
Tmem131 T C 1: 36,880,788 (GRCm39) I161V possibly damaging Het
Tpp2 T A 1: 44,010,783 (GRCm39) F523L probably damaging Het
Ttn C T 2: 76,601,849 (GRCm39) silent Het
Ttpal A G 2: 163,457,503 (GRCm39) probably null Het
Vdr T A 15: 97,757,008 (GRCm39) Y288F probably benign Het
Wipf2 C T 11: 98,783,480 (GRCm39) A302V probably benign Het
Zfp346 T G 13: 55,253,163 (GRCm39) C3G possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTAACAGCATCATACAAGGCGG -3'
(R):5'- TTGAGCAAGCAGGTGAGGTC -3'

Sequencing Primer
(F):5'- CATCATACAAGGCGGTGCGG -3'
(R):5'- AAGCAGGTGAGGTCCAGCC -3'
Posted On 2015-01-23