Incidental Mutation 'R6863:Pik3r2'
| ID |
535754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r2
|
| Ensembl Gene |
ENSMUSG00000031834 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 2 |
| Synonyms |
p85beta |
| MMRRC Submission |
044963-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6863 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71220820-71229357 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71223058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 454
(Y454C)
|
| 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: Y454C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: Y454C
| 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.5198 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,277,627 (GRCm39) |
Y278* |
probably null |
Het |
| Agap3 |
A |
T |
5: 24,657,461 (GRCm39) |
Y86F |
possibly damaging |
Het |
| Agap3 |
C |
A |
5: 24,657,462 (GRCm39) |
Y86* |
probably null |
Het |
| Ahnak |
T |
C |
19: 8,989,729 (GRCm39) |
|
probably benign |
Het |
| Arhgap45 |
G |
T |
10: 79,853,616 (GRCm39) |
E43D |
probably benign |
Het |
| Cacna1d |
A |
C |
14: 29,797,809 (GRCm39) |
I1426S |
probably damaging |
Het |
| Calhm5 |
C |
A |
10: 33,968,451 (GRCm39) |
A201S |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,193,003 (GRCm39) |
E159G |
probably benign |
Het |
| Cep85l |
C |
A |
10: 53,225,214 (GRCm39) |
W125L |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,043,647 (GRCm39) |
V431M |
possibly damaging |
Het |
| Csmd1 |
G |
A |
8: 17,584,929 (GRCm39) |
A21V |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,951,486 (GRCm39) |
Y243* |
probably null |
Het |
| Ctu1 |
A |
G |
7: 43,326,046 (GRCm39) |
E235G |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,668,457 (GRCm39) |
Y14C |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,137,351 (GRCm39) |
F235L |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,942,290 (GRCm39) |
S5P |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,618,614 (GRCm39) |
I3288T |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,751 (GRCm39) |
L30Q |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,968 (GRCm39) |
Y95C |
probably damaging |
Het |
| Etaa1 |
T |
A |
11: 17,903,794 (GRCm39) |
M1L |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,120 (GRCm39) |
T1068A |
probably benign |
Het |
| Eya1 |
C |
A |
1: 14,341,199 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
T |
8: 45,497,501 (GRCm39) |
V4329L |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,691,165 (GRCm39) |
Q127L |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,792,360 (GRCm39) |
Y590S |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,860 (GRCm39) |
Q135* |
probably null |
Het |
| Greb1 |
A |
T |
12: 16,734,421 (GRCm39) |
V1523D |
probably damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,854 (GRCm39) |
N210S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,618,029 (GRCm39) |
K487E |
possibly damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,997,195 (GRCm39) |
Y139* |
probably null |
Het |
| Klhl2 |
A |
T |
8: 65,275,743 (GRCm39) |
N53K |
probably benign |
Het |
| Lrit2 |
G |
T |
14: 36,793,901 (GRCm39) |
G322C |
probably damaging |
Het |
| Macir |
T |
C |
1: 97,574,030 (GRCm39) |
T12A |
probably benign |
Het |
| Matcap1 |
T |
C |
8: 106,012,435 (GRCm39) |
D4G |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,705,943 (GRCm39) |
Q4L |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,797,225 (GRCm39) |
T1365A |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mydgf |
C |
A |
17: 56,490,789 (GRCm39) |
V35L |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,341 (GRCm39) |
|
probably null |
Het |
| Or10s1 |
A |
G |
9: 39,986,110 (GRCm39) |
Y173C |
probably damaging |
Het |
| Or52ad1 |
C |
T |
7: 102,996,123 (GRCm39) |
C4Y |
possibly damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,437,206 (GRCm39) |
S50T |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,300 (GRCm39) |
S755G |
probably damaging |
Het |
| Shb |
A |
G |
4: 45,458,163 (GRCm39) |
W135R |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,264,001 (GRCm39) |
K239E |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,142,798 (GRCm39) |
V248D |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,107 (GRCm39) |
Y288* |
probably null |
Het |
| Sptbn1 |
T |
C |
11: 30,096,777 (GRCm39) |
M267V |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,471,109 (GRCm39) |
R661Q |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,397,030 (GRCm39) |
I819F |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,516,907 (GRCm39) |
W198R |
probably damaging |
Het |
| Timd4 |
C |
G |
11: 46,706,270 (GRCm39) |
S24* |
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,800,952 (GRCm39) |
D2G |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,040,047 (GRCm39) |
D384G |
probably damaging |
Het |
| Zfp560 |
C |
A |
9: 20,259,795 (GRCm39) |
V356F |
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 |
|
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'- ACCAACAAGTGTGTGCTGC -3'
Sequencing Primer
(F):5'- TGGCTGGCTGCACTCAG -3'
(R):5'- CAAGTGTGTGCTGCGCTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation