Incidental Mutation 'R1636:Pik3r2'
ID 173168
Institutional Source Beutler Lab
Gene Symbol Pik3r2
Ensembl Gene ENSMUSG00000031834
Gene Name phosphoinositide-3-kinase regulatory subunit 2
Synonyms p85beta
MMRRC Submission 039672-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1636 (G1)
Quality Score 140
Status Validated
Chromosome 8
Chromosomal Location 71220820-71229357 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71224542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 244 (H244Q)
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: H244Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: H244Q

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 96% (85/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abca7 A G 10: 79,844,832 (GRCm39) H1518R probably benign Het
Adam4 A G 12: 81,466,464 (GRCm39) L719S probably damaging Het
Adprm T C 11: 66,932,549 (GRCm39) Y120C possibly damaging Het
Arhgap25 T A 6: 87,472,923 (GRCm39) Y78F probably damaging Het
Asap1 G A 15: 63,995,761 (GRCm39) P665L probably damaging Het
Bank1 T C 3: 135,788,987 (GRCm39) K637R probably damaging Het
Bcr T A 10: 74,966,898 (GRCm39) L502M probably damaging Het
Brwd1 A G 16: 95,860,841 (GRCm39) L315P probably damaging Het
Btbd7 A T 12: 102,760,110 (GRCm39) Y613N probably damaging Het
Cdca7l G A 12: 117,840,663 (GRCm39) R395H probably damaging Het
Cftr T A 6: 18,226,156 (GRCm39) I368K probably damaging Het
D6Wsu163e T C 6: 126,923,564 (GRCm39) V150A possibly damaging Het
Ddx52 A G 11: 83,846,169 (GRCm39) T470A probably damaging Het
Def6 A G 17: 28,442,892 (GRCm39) E316G possibly damaging Het
Dip2a A T 10: 76,157,412 (GRCm39) N64K probably benign Het
Dlgap4 G T 2: 156,587,997 (GRCm39) E631* probably null Het
Dner T C 1: 84,563,051 (GRCm39) K190E possibly damaging Het
Eif2b4 T A 5: 31,349,610 (GRCm39) probably null Het
Eif3a A T 19: 60,770,343 (GRCm39) D119E possibly damaging Het
Ercc2 C T 7: 19,121,049 (GRCm39) T276M possibly damaging Het
Exoc1 A G 5: 76,715,965 (GRCm39) K830R probably benign Het
F2r G T 13: 95,740,400 (GRCm39) Y378* probably null Het
Fam186a G A 15: 99,839,539 (GRCm39) T2235I unknown Het
Fmo3 T G 1: 162,781,994 (GRCm39) K453T probably benign Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Galns A G 8: 123,330,955 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,550 (GRCm39) noncoding transcript Het
Gm9955 C A 18: 24,842,287 (GRCm39) probably benign Het
Immp2l T C 12: 41,750,470 (GRCm39) V113A probably damaging Het
Iyd T A 10: 3,495,588 (GRCm39) M82K possibly damaging Het
Kif21a A T 15: 90,869,008 (GRCm39) probably benign Het
Lipf A G 19: 33,953,935 (GRCm39) D342G probably damaging Het
Lmbrd1 C A 1: 24,786,011 (GRCm39) Y435* probably null Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mtrf1l A G 10: 5,763,265 (GRCm39) S355P probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Neo1 T C 9: 58,820,560 (GRCm39) S788G probably damaging Het
Nfx1 T G 4: 41,016,072 (GRCm39) probably null Het
Nlrp4c T C 7: 6,069,737 (GRCm39) V546A possibly damaging Het
Nwd2 G A 5: 63,964,900 (GRCm39) V1495M probably damaging Het
Oaf T A 9: 43,150,621 (GRCm39) I84F probably benign Het
Obscn A G 11: 59,013,463 (GRCm39) F1153S probably damaging Het
Ofcc1 A T 13: 40,333,904 (GRCm39) C396S possibly damaging Het
Omg A G 11: 79,393,166 (GRCm39) S231P probably benign Het
Or51a7 T G 7: 102,614,898 (GRCm39) I197S possibly damaging Het
Or8g35 T C 9: 39,381,215 (GRCm39) D269G probably benign Het
Pdcl3 A G 1: 39,034,016 (GRCm39) T53A possibly damaging Het
Pinx1 A T 14: 64,103,586 (GRCm39) H55L probably damaging Het
Pwwp2b T A 7: 138,834,758 (GRCm39) H66Q probably benign Het
Rell2 A G 18: 38,091,132 (GRCm39) D99G probably damaging Het
Reln G A 5: 22,203,681 (GRCm39) A1191V probably damaging Het
Rprm T C 2: 53,975,316 (GRCm39) M1V probably null Het
Sav1 A C 12: 70,031,269 (GRCm39) H84Q probably benign Het
Scamp5 T C 9: 57,358,692 (GRCm39) D28G possibly damaging Het
Selenbp2 G A 3: 94,604,122 (GRCm39) G9D probably damaging Het
Sh3tc2 T C 18: 62,122,792 (GRCm39) W518R probably damaging Het
Slc10a6 A T 5: 103,777,012 (GRCm39) N29K probably benign Het
Spindoc C A 19: 7,351,922 (GRCm39) D142Y probably damaging Het
Spink12 T A 18: 44,240,795 (GRCm39) D60E probably benign Het
Sugt1 A G 14: 79,825,422 (GRCm39) I23V probably benign Het
Syne2 T C 12: 76,051,506 (GRCm39) C4079R probably benign Het
Tex15 T G 8: 34,066,415 (GRCm39) Y1948* probably null Het
Thoc2l T A 5: 104,668,616 (GRCm39) M1046K probably damaging Het
Tln2 T C 9: 67,213,814 (GRCm39) E321G probably damaging Het
Tmem198b A G 10: 128,638,065 (GRCm39) L166P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ttn T A 2: 76,730,566 (GRCm39) probably benign Het
Unc13a G A 8: 72,106,034 (GRCm39) T690I probably damaging Het
Ush2a T C 1: 188,198,373 (GRCm39) I1479T possibly damaging Het
Vcan G A 13: 89,851,786 (GRCm39) T1058I possibly damaging Het
Vmn1r84 T C 7: 12,096,522 (GRCm39) Q45R probably benign Het
Vmn2r111 T C 17: 22,790,380 (GRCm39) N209D probably damaging Het
Wbp1l A G 19: 46,632,883 (GRCm39) Y40C probably damaging Het
Wdr72 A T 9: 74,086,907 (GRCm39) H625L probably benign Het
Zeb2 T C 2: 44,892,623 (GRCm39) Y195C probably damaging Het
Zkscan6 C T 11: 65,705,256 (GRCm39) probably benign Het
Zmym6 C A 4: 127,017,560 (GRCm39) H1022N 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
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
Predicted Primers PCR Primer
(F):5'- GGCTGTTCCCATCCAGGAAAACTAC -3'
(R):5'- ATTCACCAGGCTGGACTGTGATGC -3'

Sequencing Primer
(F):5'- CATCCAGGAAAACTACTTTTTCCC -3'
(R):5'- TGGTTACTGGCCCAACTGAC -3'
Posted On 2014-04-24