Incidental Mutation 'R3830:Pik3r2'
| ID |
273950 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71220820-71229357 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71223065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 452
(R452C)
|
| 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: R452C
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: R452C
| 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
|
| Meta Mutation Damage Score |
0.4834 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,929,621 (GRCm39) |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,670 (GRCm39) |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,044,877 (GRCm39) |
L465Q |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,850,453 (GRCm39) |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,804,905 (GRCm39) |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,313,443 (GRCm39) |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,699,242 (GRCm39) |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 101,032,252 (GRCm39) |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,618 (GRCm39) |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,228 (GRCm39) |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,520,643 (GRCm39) |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,012,112 (GRCm39) |
I231T |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or2b11 |
G |
T |
11: 59,462,427 (GRCm39) |
N46K |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,924,755 (GRCm39) |
N468S |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,443 (GRCm39) |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Six2 |
G |
T |
17: 85,992,615 (GRCm39) |
S296Y |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,463,081 (GRCm39) |
C392* |
probably null |
Het |
| Snx5 |
A |
T |
2: 144,096,821 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,997 (GRCm39) |
F744Y |
probably damaging |
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 |
|
|
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'- AACCTAGATTTGTAAGAAGCACTGG -3'
(R):5'- ATCACTGGCCCAGTACAACG -3'
Sequencing Primer
(F):5'- TTTGTAAGAAGCACTGGGAGGAAATG -3'
(R):5'- CTGTGTCCAAGTACCAACAAGTGTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation