Incidental Mutation 'R8534:Pik3r2'
| ID |
659159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r2
|
| Ensembl Gene |
ENSMUSG00000031834 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 2 |
| Synonyms |
p85beta |
| MMRRC Submission |
068503-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8534 (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 T
at 71227312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 104
(S104T)
|
| 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 |
probably benign
Transcript: ENSMUST00000034296
AA Change: S104T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: S104T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121463
Gene: ENSMUSG00000031834
AA Change: S7T
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| 4921504E06Rik |
A |
C |
2: 19,545,153 (GRCm39) |
L100R |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,283,182 (GRCm39) |
D282G |
probably damaging |
Het |
| Abcb11 |
G |
T |
2: 69,154,190 (GRCm39) |
N125K |
possibly damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,750 (GRCm39) |
D71V |
probably damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,357 (GRCm39) |
T646S |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,534,887 (GRCm39) |
Y5793H |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,368,799 (GRCm39) |
S125P |
probably damaging |
Het |
| B020011L13Rik |
C |
A |
1: 117,729,034 (GRCm39) |
H180Q |
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,365,653 (GRCm39) |
D219G |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,165,577 (GRCm39) |
S860P |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,671 (GRCm39) |
Q471L |
probably benign |
Het |
| Cyp2c54 |
A |
C |
19: 40,036,030 (GRCm39) |
D293E |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,023,805 (GRCm39) |
N962K |
probably benign |
Het |
| Dst |
C |
T |
1: 34,229,388 (GRCm39) |
T2002I |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,339,864 (GRCm39) |
N239K |
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,543,667 (GRCm39) |
F375L |
probably benign |
Het |
| G6pc2 |
T |
A |
2: 69,050,469 (GRCm39) |
N31K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm6569 |
G |
T |
15: 73,711,673 (GRCm39) |
|
probably benign |
Het |
| Insig1 |
C |
T |
5: 28,280,116 (GRCm39) |
S236L |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,622,979 (GRCm39) |
N882I |
probably benign |
Het |
| Kmt5a |
C |
A |
5: 124,598,635 (GRCm39) |
D309E |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,503,669 (GRCm39) |
T991N |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,528,353 (GRCm39) |
T79S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,134,335 (GRCm39) |
E330V |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,174,070 (GRCm39) |
V377A |
probably benign |
Het |
| Npy5r |
C |
A |
8: 67,134,688 (GRCm39) |
G35V |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,432 (GRCm39) |
I219N |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,448,605 (GRCm39) |
G207D |
possibly damaging |
Het |
| Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,302,432 (GRCm39) |
V1226A |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,351,659 (GRCm39) |
T949M |
probably benign |
Het |
| Phc1 |
G |
A |
6: 122,315,539 (GRCm39) |
|
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,083 (GRCm39) |
I55V |
possibly damaging |
Het |
| Pip |
T |
C |
6: 41,828,421 (GRCm39) |
V85A |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,445 (GRCm39) |
V86A |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 111,058,380 (GRCm39) |
P138S |
possibly damaging |
Het |
| Rab44 |
A |
G |
17: 29,363,547 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
A |
G |
2: 143,830,095 (GRCm39) |
S691P |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,079,118 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,826,542 (GRCm39) |
D1357G |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,312 (GRCm39) |
I476N |
probably damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,882,746 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc35b3 |
T |
A |
13: 39,128,566 (GRCm39) |
T174S |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,283,581 (GRCm39) |
I467F |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Spink14 |
G |
A |
18: 44,164,079 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
T |
A |
5: 77,207,325 (GRCm39) |
I361N |
probably damaging |
Het |
| Tmem59 |
T |
C |
4: 107,043,082 (GRCm39) |
|
probably null |
Het |
| Tnr |
G |
A |
1: 159,746,585 (GRCm39) |
E1235K |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,869,459 (GRCm39) |
R2015S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,565,370 (GRCm39) |
E132G |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,227,706 (GRCm39) |
N93S |
probably benign |
Het |
| Wdr17 |
T |
G |
8: 55,101,265 (GRCm39) |
I994L |
probably benign |
Het |
| Zfat |
G |
T |
15: 68,037,696 (GRCm39) |
H926Q |
probably damaging |
Het |
| Zfp2 |
C |
T |
11: 50,791,627 (GRCm39) |
E139K |
possibly 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 |
|
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 |
|
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'- GTGACACATTCTCACTTCCTGAATAAG -3'
(R):5'- TACAGGGCTGTGTACCCATTC -3'
Sequencing Primer
(F):5'- TCTCACTTCCTGAATAAGAAGCCTG -3'
(R):5'- TGAAGACCTGGAGCTGCTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation