Incidental Mutation 'R7183:Pik3c2b'
ID |
559088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3c2b
|
Ensembl Gene |
ENSMUSG00000026447 |
Gene Name |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
Synonyms |
PI3K-C2beta, C330011J12Rik |
MMRRC Submission |
045235-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R7183 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132994203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 56
(S56P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
[ENSMUST00000153707]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077730
AA Change: S56P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: S56P
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
PI3K_rbd
|
363 |
465 |
2.15e-19 |
SMART |
PI3K_C2
|
618 |
726 |
6.17e-29 |
SMART |
PI3Ka
|
804 |
990 |
1.66e-84 |
SMART |
PI3Kc
|
1078 |
1340 |
3.45e-132 |
SMART |
PX
|
1364 |
1476 |
9.44e-27 |
SMART |
low complexity region
|
1481 |
1492 |
N/A |
INTRINSIC |
C2
|
1517 |
1622 |
1.82e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153707
AA Change: S56P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115469 Gene: ENSMUSG00000026447 AA Change: S56P
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (65/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,215,706 (GRCm39) |
M816L |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,995,032 (GRCm39) |
F5439L |
probably damaging |
Het |
Apba2 |
G |
A |
7: 64,383,293 (GRCm39) |
D369N |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,097,679 (GRCm39) |
N228D |
probably benign |
Het |
Arhgap33 |
T |
A |
7: 30,225,296 (GRCm39) |
|
probably null |
Het |
Cacna1g |
C |
T |
11: 94,330,563 (GRCm39) |
C984Y |
probably benign |
Het |
Cadm2 |
C |
A |
16: 66,679,720 (GRCm39) |
G47* |
probably null |
Het |
Ccdc125 |
A |
G |
13: 100,826,866 (GRCm39) |
D241G |
possibly damaging |
Het |
Ccdc39 |
T |
G |
3: 33,868,620 (GRCm39) |
E822A |
probably damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,360,827 (GRCm39) |
D195G |
probably damaging |
Het |
Cdkl1 |
T |
C |
12: 69,795,706 (GRCm39) |
R275G |
probably damaging |
Het |
Chst4 |
T |
C |
8: 110,756,630 (GRCm39) |
N411S |
possibly damaging |
Het |
Cir1 |
A |
G |
2: 73,116,730 (GRCm39) |
V210A |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,552,093 (GRCm39) |
|
probably null |
Het |
Crmp1 |
C |
A |
5: 37,446,161 (GRCm39) |
H606N |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,367,418 (GRCm39) |
N233K |
probably damaging |
Het |
Dennd1b |
A |
T |
1: 139,097,990 (GRCm39) |
Q677L |
unknown |
Het |
Dnah17 |
G |
A |
11: 118,020,014 (GRCm39) |
T11I |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,347,684 (GRCm39) |
H346R |
probably benign |
Het |
Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
Emc3 |
G |
T |
6: 113,508,345 (GRCm39) |
Y33* |
probably null |
Het |
Ercc5 |
A |
T |
1: 44,200,968 (GRCm39) |
|
probably null |
Het |
Ercc5 |
G |
T |
1: 44,200,969 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
C |
9: 15,834,133 (GRCm39) |
I4153S |
possibly damaging |
Het |
Fn3krp |
T |
C |
11: 121,312,431 (GRCm39) |
|
probably null |
Het |
Gmnc |
C |
T |
16: 26,779,279 (GRCm39) |
D249N |
probably benign |
Het |
Gsn |
C |
T |
2: 35,184,960 (GRCm39) |
A305V |
probably benign |
Het |
Haus6 |
A |
T |
4: 86,501,989 (GRCm39) |
H627Q |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,558,920 (GRCm39) |
|
probably null |
Het |
Hoxd9 |
G |
T |
2: 74,528,709 (GRCm39) |
V104L |
possibly damaging |
Het |
Igkv10-96 |
A |
C |
6: 68,609,200 (GRCm39) |
S32A |
probably benign |
Het |
Kcnd2 |
G |
A |
6: 21,216,436 (GRCm39) |
V47M |
probably damaging |
Het |
Mab21l3 |
C |
T |
3: 101,722,469 (GRCm39) |
V386M |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,696,614 (GRCm39) |
S404G |
probably benign |
Het |
Or5b102 |
A |
G |
19: 13,041,680 (GRCm39) |
I302V |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,486 (GRCm39) |
Q304L |
probably benign |
Het |
Or7g20 |
G |
T |
9: 18,946,628 (GRCm39) |
D70Y |
probably damaging |
Het |
P4htm |
A |
T |
9: 108,459,059 (GRCm39) |
M291K |
possibly damaging |
Het |
Pde6c |
T |
C |
19: 38,121,538 (GRCm39) |
S49P |
probably benign |
Het |
Pdzd7 |
A |
G |
19: 45,025,553 (GRCm39) |
V314A |
probably benign |
Het |
Pfkl |
G |
A |
10: 77,837,916 (GRCm39) |
R31* |
probably null |
Het |
Phlpp2 |
C |
A |
8: 110,666,585 (GRCm39) |
P1038Q |
probably damaging |
Het |
Plec |
A |
G |
15: 76,089,905 (GRCm39) |
V145A |
unknown |
Het |
Prg3 |
G |
A |
2: 84,821,848 (GRCm39) |
V158I |
probably benign |
Het |
Prg3 |
G |
T |
2: 84,823,367 (GRCm39) |
D181Y |
probably damaging |
Het |
Rbp3 |
A |
G |
14: 33,677,161 (GRCm39) |
T370A |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Rubcnl |
T |
A |
14: 75,287,066 (GRCm39) |
M578K |
probably damaging |
Het |
Siae |
G |
A |
9: 37,528,242 (GRCm39) |
V72M |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,660,511 (GRCm39) |
D1864E |
probably benign |
Het |
Smox |
T |
C |
2: 131,362,486 (GRCm39) |
I255T |
possibly damaging |
Het |
Spata31e2 |
G |
A |
1: 26,721,914 (GRCm39) |
L1089F |
probably benign |
Het |
Tas2r123 |
A |
G |
6: 132,824,661 (GRCm39) |
N186S |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,910,378 (GRCm39) |
I74F |
possibly damaging |
Het |
Timm44 |
T |
C |
8: 4,317,311 (GRCm39) |
D238G |
probably damaging |
Het |
Tlk2 |
T |
C |
11: 105,112,185 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
G |
4: 63,931,365 (GRCm39) |
S782P |
probably damaging |
Het |
Tpr |
A |
T |
1: 150,282,302 (GRCm39) |
K336N |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,257,049 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,440 (GRCm39) |
I812N |
probably damaging |
Het |
Vps33a |
T |
C |
5: 123,673,278 (GRCm39) |
Q436R |
probably null |
Het |
Ywhaq |
T |
C |
12: 21,466,870 (GRCm39) |
K75E |
possibly damaging |
Het |
Zfp87 |
A |
G |
13: 67,665,593 (GRCm39) |
S290P |
probably damaging |
Het |
|
Other mutations in Pik3c2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01086:Pik3c2b
|
APN |
1 |
133,019,356 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01288:Pik3c2b
|
APN |
1 |
133,022,543 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01313:Pik3c2b
|
APN |
1 |
132,999,369 (GRCm39) |
nonsense |
probably null |
|
IGL01367:Pik3c2b
|
APN |
1 |
133,033,726 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02379:Pik3c2b
|
APN |
1 |
133,022,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02638:Pik3c2b
|
APN |
1 |
133,005,056 (GRCm39) |
splice site |
probably benign |
|
IGL02728:Pik3c2b
|
APN |
1 |
133,020,065 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02992:Pik3c2b
|
APN |
1 |
132,994,718 (GRCm39) |
nonsense |
probably null |
|
IGL03121:Pik3c2b
|
APN |
1 |
133,007,483 (GRCm39) |
missense |
probably benign |
0.00 |
R0453:Pik3c2b
|
UTSW |
1 |
133,005,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0518:Pik3c2b
|
UTSW |
1 |
133,033,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R0616:Pik3c2b
|
UTSW |
1 |
133,028,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Pik3c2b
|
UTSW |
1 |
132,998,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1542:Pik3c2b
|
UTSW |
1 |
133,017,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Pik3c2b
|
UTSW |
1 |
133,022,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Pik3c2b
|
UTSW |
1 |
132,994,365 (GRCm39) |
missense |
probably benign |
0.00 |
R1816:Pik3c2b
|
UTSW |
1 |
133,029,108 (GRCm39) |
missense |
probably benign |
0.00 |
R1897:Pik3c2b
|
UTSW |
1 |
132,994,654 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2006:Pik3c2b
|
UTSW |
1 |
132,994,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Pik3c2b
|
UTSW |
1 |
133,027,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Pik3c2b
|
UTSW |
1 |
133,031,166 (GRCm39) |
missense |
probably benign |
|
R2294:Pik3c2b
|
UTSW |
1 |
132,994,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R2320:Pik3c2b
|
UTSW |
1 |
133,031,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R4735:Pik3c2b
|
UTSW |
1 |
132,994,787 (GRCm39) |
missense |
probably benign |
0.25 |
R4926:Pik3c2b
|
UTSW |
1 |
133,027,364 (GRCm39) |
nonsense |
probably null |
|
R4948:Pik3c2b
|
UTSW |
1 |
133,027,453 (GRCm39) |
critical splice donor site |
probably null |
|
R4997:Pik3c2b
|
UTSW |
1 |
133,032,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Pik3c2b
|
UTSW |
1 |
132,998,146 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5461:Pik3c2b
|
UTSW |
1 |
133,027,440 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5722:Pik3c2b
|
UTSW |
1 |
133,031,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5971:Pik3c2b
|
UTSW |
1 |
133,002,365 (GRCm39) |
splice site |
probably null |
|
R5980:Pik3c2b
|
UTSW |
1 |
133,016,046 (GRCm39) |
missense |
probably benign |
0.43 |
R6036:Pik3c2b
|
UTSW |
1 |
133,018,451 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6138:Pik3c2b
|
UTSW |
1 |
133,002,365 (GRCm39) |
splice site |
probably null |
|
R6223:Pik3c2b
|
UTSW |
1 |
132,998,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Pik3c2b
|
UTSW |
1 |
132,994,449 (GRCm39) |
missense |
probably benign |
0.02 |
R6742:Pik3c2b
|
UTSW |
1 |
133,003,559 (GRCm39) |
missense |
probably benign |
|
R6954:Pik3c2b
|
UTSW |
1 |
132,994,041 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6998:Pik3c2b
|
UTSW |
1 |
133,030,110 (GRCm39) |
missense |
probably benign |
0.23 |
R7103:Pik3c2b
|
UTSW |
1 |
133,033,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7133:Pik3c2b
|
UTSW |
1 |
133,017,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7161:Pik3c2b
|
UTSW |
1 |
133,033,850 (GRCm39) |
missense |
probably damaging |
0.98 |
R7193:Pik3c2b
|
UTSW |
1 |
133,007,512 (GRCm39) |
missense |
probably benign |
0.00 |
R7252:Pik3c2b
|
UTSW |
1 |
133,022,472 (GRCm39) |
missense |
probably benign |
0.19 |
R7263:Pik3c2b
|
UTSW |
1 |
133,017,940 (GRCm39) |
missense |
probably damaging |
0.98 |
R7404:Pik3c2b
|
UTSW |
1 |
133,018,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:Pik3c2b
|
UTSW |
1 |
133,007,579 (GRCm39) |
critical splice donor site |
probably null |
|
R7712:Pik3c2b
|
UTSW |
1 |
133,013,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Pik3c2b
|
UTSW |
1 |
133,030,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Pik3c2b
|
UTSW |
1 |
132,998,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7913:Pik3c2b
|
UTSW |
1 |
133,017,799 (GRCm39) |
critical splice donor site |
probably null |
|
R7916:Pik3c2b
|
UTSW |
1 |
133,028,642 (GRCm39) |
missense |
probably benign |
0.30 |
R7960:Pik3c2b
|
UTSW |
1 |
133,031,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Pik3c2b
|
UTSW |
1 |
133,003,547 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8346:Pik3c2b
|
UTSW |
1 |
133,017,984 (GRCm39) |
missense |
probably damaging |
0.97 |
R8938:Pik3c2b
|
UTSW |
1 |
133,016,068 (GRCm39) |
missense |
probably benign |
0.19 |
R8997:Pik3c2b
|
UTSW |
1 |
133,018,517 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9416:Pik3c2b
|
UTSW |
1 |
133,005,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Pik3c2b
|
UTSW |
1 |
133,012,725 (GRCm39) |
critical splice donor site |
probably null |
|
R9621:Pik3c2b
|
UTSW |
1 |
132,999,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Pik3c2b
|
UTSW |
1 |
133,022,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Pik3c2b
|
UTSW |
1 |
133,018,588 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9786:Pik3c2b
|
UTSW |
1 |
133,019,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
U15987:Pik3c2b
|
UTSW |
1 |
133,002,365 (GRCm39) |
splice site |
probably null |
|
X0060:Pik3c2b
|
UTSW |
1 |
133,012,674 (GRCm39) |
missense |
probably benign |
0.18 |
Z1176:Pik3c2b
|
UTSW |
1 |
133,027,424 (GRCm39) |
nonsense |
probably null |
|
Z1176:Pik3c2b
|
UTSW |
1 |
132,994,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCATGTCTTCCACTCAGGG -3'
(R):5'- AAGAGCATCTCCCCTCTGAG -3'
Sequencing Primer
(F):5'- ATGTCTTCCACTCAGGGCAATGG -3'
(R):5'- TCCAGACAGGGAGCCCTTG -3'
|
Posted On |
2019-06-26 |