Incidental Mutation 'R8534:Pik3r2'
ID 659159
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 # R8534 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70768176-70776713 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70774668 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 104 (S104T)
Ref Sequence ENSEMBL: ENSMUSP00000034296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000166004] [ENSMUST00000211948]
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: S104T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: S104T

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
SMART Domains Protein: ENSMUSP00000121463
Gene: ENSMUSG00000031834
AA Change: S7T

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 probably benign
Transcript: ENSMUST00000166004
SMART Domains Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Pfam:DUF1908 64 337 4.4e-128 PFAM
S_TKc 373 646 2.77e-99 SMART
S_TK_X 647 710 2.39e-1 SMART
low complexity region 820 833 N/A INTRINSIC
low complexity region 910 942 N/A INTRINSIC
PDZ 958 1038 3.8e-15 SMART
low complexity region 1053 1074 N/A INTRINSIC
low complexity region 1089 1121 N/A INTRINSIC
low complexity region 1124 1150 N/A INTRINSIC
low complexity region 1180 1204 N/A INTRINSIC
low complexity region 1231 1248 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211948
Predicted Effect probably benign
Transcript: ENSMUST00000212140
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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
4921504E06Rik A C 2: 19,540,342 L100R probably damaging Het
4930430A15Rik G A 2: 111,228,035 P138S possibly damaging Het
6820408C15Rik A G 2: 152,441,262 D282G probably damaging Het
Abcb11 G T 2: 69,323,846 N125K possibly damaging Het
Acbd7 A T 2: 3,340,713 D71V probably damaging Het
Adgrb1 A T 15: 74,543,508 T646S probably damaging Het
Adgrv1 A G 13: 81,386,768 Y5793H probably benign Het
Agmo A G 12: 37,252,539 D125G probably damaging Het
Ahrr A G 13: 74,220,680 S125P probably damaging Het
B020011L13Rik C A 1: 117,801,304 H180Q probably benign Het
Cbfa2t3 T C 8: 122,638,914 D219G probably damaging Het
Ccdc187 A G 2: 26,275,565 S860P possibly damaging Het
Ceacam5 A T 7: 17,750,746 Q471L probably benign Het
Cyp2c54 A C 19: 40,047,586 D293E probably damaging Het
Dnah1 G T 14: 31,301,848 N962K probably benign Het
Dst C T 1: 34,190,307 T2002I probably benign Het
Elavl1 A T 8: 4,289,864 N239K probably benign Het
Elmod3 A G 6: 72,566,684 F375L probably benign Het
G6pc2 T A 2: 69,220,125 N31K probably benign Het
Ggnbp2 C T 11: 84,837,989 probably null Het
Gm6569 G T 15: 73,839,824 probably benign Het
Insig1 C T 5: 28,075,118 S236L probably damaging Het
Itih4 A T 14: 30,901,022 N882I probably benign Het
Kmt5a C A 5: 124,460,572 D309E probably benign Het
Kndc1 C A 7: 139,923,753 T991N probably benign Het
Lingo1 T A 9: 56,621,069 T79S probably benign Het
Myh4 A T 11: 67,243,509 E330V probably benign Het
Nlrx1 A G 9: 44,262,773 V377A probably benign Het
Npy5r C A 8: 66,682,036 G35V probably benign Het
Olfr1454 T A 19: 13,064,068 I219N probably damaging Het
Olfr853 C T 9: 19,537,309 G207D possibly damaging Het
Pabpn1l T C 8: 122,622,619 T20A probably benign Het
Pcf11 A G 7: 92,653,224 V1226A probably benign Het
Per2 G A 1: 91,423,937 T949M probably benign Het
Phc1 G A 6: 122,338,580 probably benign Het
Pias2 A G 18: 77,097,387 I55V possibly damaging Het
Pip T C 6: 41,851,487 V85A probably benign Het
Pms2 T C 5: 143,923,627 V86A probably benign Het
Rab44 A G 17: 29,144,573 probably null Het
Rrbp1 A G 2: 143,988,175 S691P probably damaging Het
Ruvbl2 A T 7: 45,429,694 probably null Het
Setbp1 T C 18: 78,783,327 D1357G possibly damaging Het
Slc12a6 T A 2: 112,343,967 I476N probably damaging Het
Slc1a1 C T 19: 28,905,346 P337S probably damaging Het
Slc35b3 T A 13: 38,944,590 T174S probably benign Het
Slc4a4 A T 5: 89,135,722 I467F probably damaging Het
Slc50a1 G A 3: 89,270,403 probably null Het
Spink14 G A 18: 44,031,012 probably null Het
Thegl T A 5: 77,059,478 I361N probably damaging Het
Tmem59 T C 4: 107,185,885 probably null Het
Tnr G A 1: 159,919,015 E1235K probably benign Het
Trpm6 A T 19: 18,892,095 R2015S probably benign Het
Tsnaxip1 A G 8: 105,838,738 E132G probably damaging Het
Vps54 A G 11: 21,277,706 N93S probably benign Het
Wdr17 T G 8: 54,648,230 I994L probably benign Het
Zfat G T 15: 68,165,847 H926Q probably damaging Het
Zfp2 C T 11: 50,900,800 E139K possibly damaging 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
R8237:Pik3r2 UTSW 8 70772150 missense probably benign 0.00
R8414:Pik3r2 UTSW 8 70770435 missense probably damaging 1.00
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'- GTGACACATTCTCACTTCCTGAATAAG -3'
(R):5'- TACAGGGCTGTGTACCCATTC -3'

Sequencing Primer
(F):5'- TCTCACTTCCTGAATAAGAAGCCTG -3'
(R):5'- TGAAGACCTGGAGCTGCTC -3'
Posted On 2021-01-18