Incidental Mutation 'R8237:Pik3r2'
ID 637419
Institutional Source Beutler Lab
Gene Symbol Pik3r2
Ensembl Gene ENSMUSG00000031834
Gene Name phosphoinositide-3-kinase regulatory subunit 2
Synonyms p85beta
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8237 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70768176-70776713 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70772150 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 194 (A194V)
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: A194V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: A194V

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 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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.2%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,880,547 L285P probably damaging Het
Abca4 T C 3: 122,162,303 I1905T probably benign Het
Abca5 A T 11: 110,310,155 I473K probably benign Het
Adgrl3 CAA CA 5: 81,787,561 probably null Het
Ap2a1 C A 7: 44,900,796 R959L probably damaging Het
Birc6 G C 17: 74,611,131 L1845F probably damaging Het
Cbs T C 17: 31,615,480 I512V probably benign Het
Ceacam3 T C 7: 17,163,157 Y683H Het
Chd8 C T 14: 52,213,352 S1426N probably damaging Het
Cog8 T C 8: 107,056,291 D122G probably benign Het
Crybg1 G A 10: 43,966,380 Q1772* probably null Het
Cspg4 T C 9: 56,892,680 F1576S probably damaging Het
Ctse T A 1: 131,662,729 V63E probably benign Het
Dnah3 G T 7: 119,926,413 T3917N probably benign Het
Dst C T 1: 34,169,793 T1124M possibly damaging Het
Fkbp10 A G 11: 100,415,959 Q59R probably damaging Het
Fsip1 A G 2: 118,233,002 S329P probably damaging Het
Ginm1 G T 10: 7,792,655 S56R unknown Het
Gm10110 C T 14: 89,898,241 V76M noncoding transcript Het
Gm6401 T A 14: 41,965,495 I125F probably damaging Het
Helz2 T C 2: 181,229,331 D2815G possibly damaging Het
Hes1 T C 16: 30,067,229 V217A probably damaging Het
Hrasls C A 16: 29,220,354 T62K probably benign Het
Hsd3b1 C T 3: 98,853,110 M188I possibly damaging Het
Ighv1-75 T C 12: 115,834,256 probably benign Het
Kif1b T A 4: 149,191,185 N1423I probably benign Het
Lmntd1 G A 6: 145,427,420 T129M probably damaging Het
Lonrf2 T A 1: 38,800,773 T414S probably benign Het
Lrp1b T C 2: 40,851,774 D3161G Het
Lyst T C 13: 13,651,732 I1608T probably benign Het
Map9 C T 3: 82,377,160 P347L probably damaging Het
Mixl1 G A 1: 180,696,757 Q86* probably null Het
Muc5b T C 7: 141,857,960 S1548P unknown Het
Myo15b A G 11: 115,877,001 K1376E Het
Nlrc5 A G 8: 94,526,125 T105A unknown Het
Npepps A G 11: 97,248,200 probably null Het
Nup205 T A 6: 35,227,503 F1441L possibly damaging Het
Olfr494 A C 7: 108,368,027 H179P probably damaging Het
Pbx4 A G 8: 69,864,443 T117A probably benign Het
Phf2 T A 13: 48,823,038 T234S unknown Het
Plbd2 T C 5: 120,499,049 D116G probably damaging Het
Plpp2 G A 10: 79,527,460 A235V possibly damaging Het
Prkce G T 17: 86,559,218 R502L probably damaging Het
Psrc1 C T 3: 108,386,614 A249V probably damaging Het
Ptdss1 T C 13: 66,976,777 C347R probably damaging Het
Serpina1b C A 12: 103,818,804 probably null Het
Spcs1 C G 14: 31,000,701 A113P noncoding transcript Het
Ssfa2 T C 2: 79,657,270 S566P probably benign Het
Stxbp2 C T 8: 3,635,695 T247M Het
Tex15 A G 8: 33,577,399 T2286A possibly damaging Het
Usp45 T G 4: 21,834,274 V736G probably damaging Het
Vmn2r69 A G 7: 85,411,132 S415P probably benign Het
Wisp1 C A 15: 66,919,234 T295N probably benign Het
Zfp407 T C 18: 84,560,144 E948G possibly damaging Het
Zfp942 A T 17: 21,928,245 C468S possibly damaging Het
Zmym6 A G 4: 127,122,751 E775G probably damaging Het
Zranb2 A G 3: 157,545,040 R283G probably null Het
Other mutations in Pik3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pik3r2 APN 8 70770429 missense probably damaging 1.00
IGL01637:Pik3r2 APN 8 70772348 unclassified probably benign
IGL02514:Pik3r2 APN 8 70770592 missense probably benign 0.00
IGL03395:Pik3r2 APN 8 70772355 missense probably benign
kingfisher UTSW 8 70770901 missense probably damaging 1.00
R0022:Pik3r2 UTSW 8 70770901 missense probably damaging 1.00
R0022:Pik3r2 UTSW 8 70770901 missense probably damaging 1.00
R0448:Pik3r2 UTSW 8 70772044 unclassified probably benign
R1636:Pik3r2 UTSW 8 70771898 missense probably benign
R1662:Pik3r2 UTSW 8 70770606 missense probably damaging 1.00
R2114:Pik3r2 UTSW 8 70769385 missense probably benign 0.31
R2879:Pik3r2 UTSW 8 70772385 missense probably benign
R3830:Pik3r2 UTSW 8 70770421 missense probably benign 0.19
R3852:Pik3r2 UTSW 8 70770421 missense probably benign 0.19
R3859:Pik3r2 UTSW 8 70769986 missense probably damaging 1.00
R3967:Pik3r2 UTSW 8 70770421 missense probably benign 0.19
R3968:Pik3r2 UTSW 8 70770421 missense probably benign 0.19
R3969:Pik3r2 UTSW 8 70770421 missense probably benign 0.19
R3970:Pik3r2 UTSW 8 70770421 missense probably benign 0.19
R4606:Pik3r2 UTSW 8 70772136 nonsense probably null
R4666:Pik3r2 UTSW 8 70768859 missense possibly damaging 0.93
R5481:Pik3r2 UTSW 8 70769764 missense probably benign 0.31
R6445:Pik3r2 UTSW 8 70772026 missense probably benign 0.01
R6578:Pik3r2 UTSW 8 70772639 missense probably benign 0.00
R6667:Pik3r2 UTSW 8 70769173 missense probably damaging 1.00
R6794:Pik3r2 UTSW 8 70770717 missense probably benign 0.43
R6863:Pik3r2 UTSW 8 70770414 missense probably damaging 1.00
R7378:Pik3r2 UTSW 8 70769381 missense probably benign 0.03
R7750:Pik3r2 UTSW 8 70770901 missense probably damaging 1.00
R7821:Pik3r2 UTSW 8 70769764 missense probably damaging 1.00
R8056:Pik3r2 UTSW 8 70772367 missense probably benign 0.14
R8414:Pik3r2 UTSW 8 70770435 missense probably damaging 1.00
R8534:Pik3r2 UTSW 8 70774668 missense probably benign
R8781:Pik3r2 UTSW 8 70769402 missense possibly damaging 0.88
R8794:Pik3r2 UTSW 8 70771363 missense probably benign
R9322:Pik3r2 UTSW 8 70774850 missense possibly damaging 0.74
R9401:Pik3r2 UTSW 8 70771093 missense possibly damaging 0.77
R9668:Pik3r2 UTSW 8 70768815 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTGTTGCAGCAGGAAAC -3'
(R):5'- AGGTTAGGGATCCTGCTGAC -3'

Sequencing Primer
(F):5'- ACGCAGTGTGAGAGCCTG -3'
(R):5'- AGGGATCCTGCTGACTTTCC -3'
Posted On 2020-07-13