Incidental Mutation 'R3970:Pik3r2'
| ID |
310921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r2
|
| Ensembl Gene |
ENSMUSG00000031834 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 2 |
| Synonyms |
p85beta |
| MMRRC Submission |
040938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3970 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,779 (GRCm39) |
M583T |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,661,457 (GRCm39) |
K51R |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,821,898 (GRCm39) |
Y513C |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,219,699 (GRCm39) |
L34* |
probably null |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,161,700 (GRCm39) |
N749D |
probably benign |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
| Cherp |
T |
C |
8: 73,223,795 (GRCm39) |
H196R |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
T |
3: 113,890,838 (GRCm39) |
T392S |
unknown |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Csf2rb |
T |
C |
15: 78,225,667 (GRCm39) |
V286A |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,578,756 (GRCm39) |
E128G |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,200,601 (GRCm39) |
L332P |
probably damaging |
Het |
| Nampt |
T |
A |
12: 32,883,095 (GRCm39) |
D93E |
probably benign |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,501,568 (GRCm39) |
A45E |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,488 (GRCm39) |
P4898L |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,222 (GRCm39) |
V15A |
probably damaging |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 80,007,706 (GRCm39) |
G286S |
possibly damaging |
Het |
| Pcdha2 |
C |
A |
18: 37,073,750 (GRCm39) |
Y460* |
probably null |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,583,728 (GRCm39) |
S125A |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,824,218 (GRCm39) |
E1566K |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,546,171 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
A |
T |
4: 143,795,044 (GRCm39) |
N477I |
possibly damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
| Sf3b1 |
G |
A |
1: 55,051,341 (GRCm39) |
R196* |
probably null |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc6a7 |
A |
C |
18: 61,136,417 (GRCm39) |
L328R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,714,750 (GRCm39) |
T139A |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,479,106 (GRCm39) |
I613N |
probably damaging |
Het |
| Tlk1 |
A |
G |
2: 70,546,996 (GRCm39) |
V695A |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,733,531 (GRCm39) |
D160G |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,236,684 (GRCm39) |
A84T |
probably damaging |
Het |
| Zfp219 |
T |
A |
14: 52,244,421 (GRCm39) |
Q541L |
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 |
|
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'- TCAATAGTGCTGGCTGGCTG -3'
(R):5'- GTACCAACAAGTGTGTGCTG -3'
Sequencing Primer
(F):5'- GGGAATCCCAAACCTAGATTTGTAAG -3'
(R):5'- AACAAGTGTGTGCTGCGCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation