Incidental Mutation 'R9322:Pik3r2'
| ID |
706268 |
| 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)
|
| Stock # |
R9322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71220820-71229357 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71227494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 43
(V43A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000034296
AA Change: V43A
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: V43A
| 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 |
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 |
probably benign
Transcript: ENSMUST00000166004
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,192,331 (GRCm39) |
V727A |
probably damaging |
Het |
| Arhgef33 |
T |
A |
17: 80,677,818 (GRCm39) |
L455* |
probably null |
Het |
| Arnt |
T |
C |
3: 95,397,929 (GRCm39) |
S591P |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,446,462 (GRCm39) |
M335V |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,107,625 (GRCm39) |
S665P |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,333 (GRCm39) |
N148S |
probably damaging |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,503,272 (GRCm39) |
Y144F |
probably damaging |
Het |
| Ccdc9 |
T |
C |
7: 16,012,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Ciao3 |
G |
C |
17: 25,998,548 (GRCm39) |
Q217H |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,978 (GRCm39) |
Y332H |
probably damaging |
Het |
| Csrnp1 |
T |
C |
9: 119,801,853 (GRCm39) |
E402G |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,189,001 (GRCm39) |
I1455N |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,934 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Dsn1 |
C |
T |
2: 156,843,669 (GRCm39) |
V144I |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,765,199 (GRCm39) |
E2501V |
probably benign |
Het |
| Epha6 |
A |
T |
16: 60,245,118 (GRCm39) |
S360R |
probably damaging |
Het |
| Fasl |
A |
T |
1: 161,609,512 (GRCm39) |
L158Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,014 (GRCm39) |
V535E |
probably benign |
Het |
| Fmo5 |
A |
T |
3: 97,546,190 (GRCm39) |
K168* |
probably null |
Het |
| Gm5157 |
T |
G |
7: 20,919,431 (GRCm39) |
K37N |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,363,728 (GRCm39) |
I596F |
possibly damaging |
Het |
| Il23a |
T |
C |
10: 128,132,990 (GRCm39) |
E123G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,226,587 (GRCm39) |
T1386A |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,840,245 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Lhx4 |
A |
G |
1: 155,578,353 (GRCm39) |
I263T |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,747,601 (GRCm39) |
L34P |
probably damaging |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,844 (GRCm39) |
H138L |
possibly damaging |
Het |
| Nat3 |
A |
T |
8: 68,000,162 (GRCm39) |
K14* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,297,818 (GRCm39) |
I1216N |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,118 (GRCm39) |
E461G |
probably benign |
Het |
| Or11h23 |
C |
A |
14: 50,948,507 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,561 (GRCm39) |
T57A |
probably damaging |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Pdha2 |
C |
A |
3: 140,916,550 (GRCm39) |
M319I |
probably benign |
Het |
| Psd |
T |
A |
19: 46,301,880 (GRCm39) |
E902V |
probably damaging |
Het |
| Psme3 |
A |
C |
11: 101,211,437 (GRCm39) |
H198P |
probably damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,003 (GRCm39) |
D219G |
possibly damaging |
Het |
| Scn1b |
C |
A |
7: 30,824,517 (GRCm39) |
W57L |
probably damaging |
Het |
| Sfrp2 |
T |
C |
3: 83,674,006 (GRCm39) |
I53T |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,439 (GRCm39) |
|
probably null |
Het |
| Slc18a3 |
A |
G |
14: 32,185,282 (GRCm39) |
I367T |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,258,246 (GRCm39) |
R499W |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,865,747 (GRCm39) |
D75G |
probably benign |
Het |
| Trim67 |
C |
A |
8: 125,549,967 (GRCm39) |
Y532* |
probably null |
Het |
| Ttc16 |
C |
T |
2: 32,664,952 (GRCm39) |
|
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,517,124 (GRCm39) |
S487T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,087 (GRCm39) |
T125A |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,498 (GRCm39) |
T660A |
possibly damaging |
Het |
| Zer1 |
A |
T |
2: 30,000,923 (GRCm39) |
V166D |
probably benign |
Het |
|
| Other mutations in Pik3r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- CAGAAGATCCATCCAAGGGC -3'
(R):5'- TAGAGGTCTACAAGCCCACC -3'
Sequencing Primer
(F):5'- ATCCATCCAAGGGCCTGGC -3'
(R):5'- AGCCCATGGGGTCCCTAGAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation