Incidental Mutation 'IGL00487:Pik3r2'
| ID |
5029 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pik3r2
|
| Ensembl Gene |
ENSMUSG00000031834 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 2 |
| Synonyms |
p85beta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70768176-70776713 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70770429 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 449
(D449G)
|
| 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 damaging
Transcript: ENSMUST00000034296
AA Change: D449G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: D449G
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000222087
|
| Coding Region Coverage |
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,309,450 |
|
probably null |
Het |
| Dusp23 |
T |
C |
1: 172,631,632 |
|
probably benign |
Het |
| Invs |
C |
T |
4: 48,407,689 |
Q555* |
probably null |
Het |
| Mak16 |
T |
C |
8: 31,166,750 |
N9D |
probably benign |
Het |
| Mrps7 |
T |
C |
11: 115,604,858 |
I74T |
possibly damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,449,985 |
V339G |
possibly damaging |
Het |
| Nucb1 |
A |
G |
7: 45,501,651 |
L102P |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 104,594,197 |
M226T |
probably benign |
Het |
| Rnf157 |
G |
A |
11: 116,362,355 |
P76S |
probably benign |
Het |
| Senp6 |
C |
A |
9: 80,113,838 |
Q267K |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,742,658 |
E349G |
probably damaging |
Het |
| Snx14 |
G |
T |
9: 88,402,190 |
S475Y |
probably damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,952,523 |
H37L |
probably benign |
Het |
| Wdr66 |
T |
G |
5: 123,274,177 |
I84S |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 96,038,949 |
H1371L |
probably benign |
Het |
|
| Other mutations in Pik3r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation