Incidental Mutation 'R7750:Pik3r2'
| ID |
597156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r2
|
| Ensembl Gene |
ENSMUSG00000031834 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 2 |
| Synonyms |
p85beta |
| MMRRC Submission |
045806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71220820-71229357 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71223545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 346
(F346S)
|
| 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: F346S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: F346S
| 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 |
0.9749 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,199 (GRCm39) |
D816V |
possibly damaging |
Het |
| Abca16 |
A |
T |
7: 120,113,928 (GRCm39) |
N933I |
probably benign |
Het |
| Acly |
A |
T |
11: 100,368,839 (GRCm39) |
|
probably null |
Het |
| Acox1 |
C |
T |
11: 116,074,406 (GRCm39) |
G105D |
possibly damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,628 (GRCm39) |
E939G |
possibly damaging |
Het |
| Bard1 |
T |
A |
1: 71,106,101 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
T |
17: 32,432,521 (GRCm39) |
N579K |
unknown |
Het |
| C1qc |
T |
C |
4: 136,617,592 (GRCm39) |
Y168C |
probably damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,858 (GRCm39) |
D175G |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,190 (GRCm39) |
Y388* |
probably null |
Het |
| Clasrp |
A |
T |
7: 19,318,516 (GRCm39) |
*628R |
probably null |
Het |
| Cox4i1 |
A |
G |
8: 121,400,049 (GRCm39) |
I111V |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,076,913 (GRCm39) |
|
probably null |
Het |
| Frem2 |
C |
A |
3: 53,431,103 (GRCm39) |
L2743F |
possibly damaging |
Het |
| Frmd4a |
A |
T |
2: 4,606,160 (GRCm39) |
H628L |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,690,184 (GRCm39) |
D809G |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,274,652 (GRCm39) |
M1491K |
possibly damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,810 (GRCm39) |
H183Y |
possibly damaging |
Het |
| H1f7 |
A |
G |
15: 98,154,565 (GRCm39) |
S195P |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,866,920 (GRCm39) |
Y2858C |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,412 (GRCm39) |
F108L |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,846,251 (GRCm39) |
V443A |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myh9 |
C |
T |
15: 77,667,610 (GRCm39) |
V608I |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,464,849 (GRCm39) |
D475G |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,170,728 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
A |
11: 71,059,665 (GRCm39) |
I769F |
probably benign |
Het |
| Nol8 |
G |
T |
13: 49,815,742 (GRCm39) |
V617F |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,740 (GRCm39) |
C109* |
probably null |
Het |
| Pou3f3 |
T |
A |
1: 42,737,308 (GRCm39) |
F335I |
probably damaging |
Het |
| Ppp1r3e |
T |
C |
14: 55,114,084 (GRCm39) |
D196G |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,041,757 (GRCm39) |
T545A |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rprd1a |
T |
A |
18: 24,641,311 (GRCm39) |
K102* |
probably null |
Het |
| Sim1 |
A |
G |
10: 50,772,131 (GRCm39) |
T47A |
possibly damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,728,498 (GRCm39) |
A102T |
probably damaging |
Het |
| Slc6a11 |
C |
T |
6: 114,207,098 (GRCm39) |
P361S |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,998 (GRCm39) |
F286S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,113,030 (GRCm39) |
S421P |
probably benign |
Het |
| Snap91 |
A |
C |
9: 86,680,762 (GRCm39) |
|
probably null |
Het |
| Sppl2a |
A |
G |
2: 126,761,625 (GRCm39) |
L293P |
probably damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,360 (GRCm39) |
I66K |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,311 (GRCm39) |
I85V |
probably benign |
Het |
| Thop1 |
G |
T |
10: 80,916,025 (GRCm39) |
A403S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,706,354 (GRCm39) |
M52K |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,118,609 (GRCm39) |
N111D |
probably damaging |
Het |
| Trip10 |
G |
A |
17: 57,568,667 (GRCm39) |
V419I |
possibly damaging |
Het |
| Trpv3 |
T |
C |
11: 73,176,847 (GRCm39) |
Y409H |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,283,399 (GRCm39) |
T1143A |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,108 (GRCm39) |
S20T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,823 (GRCm39) |
F406L |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,040,884 (GRCm39) |
E1788G |
probably benign |
Het |
| Usp45 |
A |
G |
4: 21,780,430 (GRCm39) |
D27G |
probably damaging |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,726 (GRCm39) |
V367I |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,185 (GRCm39) |
K849I |
probably damaging |
Het |
| Zfp119b |
A |
T |
17: 56,245,682 (GRCm39) |
H501Q |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,016,958 (GRCm39) |
H893N |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,663,525 (GRCm39) |
E88G |
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 |
|
|
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 |
|
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'- TGGGAGATGAGTTCCACCAC -3'
(R):5'- TTCAGGATGCAGAGTGGTACTG -3'
Sequencing Primer
(F):5'- GCTCTGAGAAGCCATAGTGACC -3'
(R):5'- CTGCTGCAGCAAAAGATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation