Incidental Mutation 'R7133:Pik3c2b'
ID |
552791 |
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 |
045218-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R7133 (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 133017972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 945
(S945P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
AlphaFold |
E9QAN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077730
AA Change: S945P
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000076911 Gene: ENSMUSG00000026447 AA Change: S945P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (91/93) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
A |
10: 78,902,473 (GRCm39) |
K614N |
probably benign |
Het |
2610008E11Rik |
T |
G |
10: 78,902,474 (GRCm39) |
K614T |
probably benign |
Het |
Ahsa1 |
T |
A |
12: 87,317,116 (GRCm39) |
S120R |
probably benign |
Het |
Anapc16 |
G |
A |
10: 59,832,302 (GRCm39) |
T37I |
possibly damaging |
Het |
Arid2 |
C |
A |
15: 96,276,756 (GRCm39) |
P1606H |
probably damaging |
Het |
Ash1l |
TATCTCCTTTTCCAAAAA |
TA |
3: 88,890,764 (GRCm39) |
|
probably null |
Het |
Asic1 |
T |
A |
15: 99,569,968 (GRCm39) |
N96K |
probably damaging |
Het |
Asph |
A |
T |
4: 9,484,575 (GRCm39) |
D582E |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,400,557 (GRCm39) |
D528G |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,952,871 (GRCm39) |
V164A |
|
Het |
Cbx6 |
C |
T |
15: 79,712,866 (GRCm39) |
G187D |
possibly damaging |
Het |
Cct7 |
A |
G |
6: 85,443,627 (GRCm39) |
T332A |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,667,651 (GRCm39) |
L440* |
probably null |
Het |
Crybg2 |
A |
T |
4: 133,792,754 (GRCm39) |
I130F |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,357,167 (GRCm39) |
E798G |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,480,995 (GRCm39) |
E81G |
possibly damaging |
Het |
Cwc22 |
C |
T |
2: 77,759,822 (GRCm39) |
R75H |
possibly damaging |
Het |
Cym |
T |
G |
3: 107,121,530 (GRCm39) |
D254A |
probably damaging |
Het |
Dcaf11 |
T |
A |
14: 55,806,383 (GRCm39) |
|
probably null |
Het |
Dctn1 |
A |
T |
6: 83,157,026 (GRCm39) |
|
probably null |
Het |
Dennd5a |
C |
T |
7: 109,495,449 (GRCm39) |
|
probably null |
Het |
Dmpk |
T |
A |
7: 18,821,232 (GRCm39) |
C217S |
probably damaging |
Het |
Dnah1 |
C |
A |
14: 31,008,033 (GRCm39) |
V2125L |
probably benign |
Het |
Exoc4 |
G |
A |
6: 33,415,408 (GRCm39) |
A427T |
probably benign |
Het |
Farp2 |
G |
T |
1: 93,548,956 (GRCm39) |
V1021F |
probably damaging |
Het |
Flg2 |
T |
C |
3: 93,127,069 (GRCm39) |
S1994P |
unknown |
Het |
Fmnl1 |
T |
C |
11: 103,072,610 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
A |
3: 53,479,760 (GRCm39) |
I1978F |
possibly damaging |
Het |
Gan |
T |
A |
8: 117,913,969 (GRCm39) |
C122* |
probably null |
Het |
Gpr25 |
T |
A |
1: 136,188,559 (GRCm39) |
Y18F |
probably damaging |
Het |
Hoxa7 |
C |
T |
6: 52,192,720 (GRCm39) |
E223K |
probably benign |
Het |
Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
Ibsp |
A |
T |
5: 104,450,172 (GRCm39) |
K27* |
probably null |
Het |
Ighv6-5 |
T |
A |
12: 114,380,395 (GRCm39) |
T41S |
probably benign |
Het |
Ighv9-4 |
T |
C |
12: 114,263,757 (GRCm39) |
M59V |
probably benign |
Het |
Il17rb |
T |
C |
14: 29,718,828 (GRCm39) |
D418G |
probably damaging |
Het |
Ints5 |
T |
A |
19: 8,872,923 (GRCm39) |
V294E |
probably damaging |
Het |
Irx6 |
G |
A |
8: 93,405,041 (GRCm39) |
C303Y |
probably damaging |
Het |
Itih3 |
T |
A |
14: 30,639,655 (GRCm39) |
I389F |
probably damaging |
Het |
Lama1 |
C |
T |
17: 68,089,141 (GRCm39) |
T1604I |
|
Het |
Lama3 |
C |
A |
18: 12,672,843 (GRCm39) |
Q873K |
probably benign |
Het |
Lhx1 |
T |
G |
11: 84,410,746 (GRCm39) |
S284R |
probably benign |
Het |
Lrba |
T |
A |
3: 86,302,238 (GRCm39) |
|
probably null |
Het |
Lrg1 |
C |
T |
17: 56,427,592 (GRCm39) |
G127R |
possibly damaging |
Het |
Macir |
G |
A |
1: 97,573,645 (GRCm39) |
P140L |
probably benign |
Het |
Mapre1 |
T |
A |
2: 153,606,883 (GRCm39) |
L205H |
probably benign |
Het |
Meltf |
A |
G |
16: 31,711,617 (GRCm39) |
N581S |
probably damaging |
Het |
Mgat5 |
A |
C |
1: 127,292,926 (GRCm39) |
M149L |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,093,412 (GRCm39) |
T168A |
probably benign |
Het |
Naalad2 |
C |
T |
9: 18,238,673 (GRCm39) |
V681I |
probably benign |
Het |
Or51e2 |
A |
G |
7: 102,391,524 (GRCm39) |
S229P |
probably damaging |
Het |
Or52r1c |
T |
A |
7: 102,735,205 (GRCm39) |
L155Q |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,528,243 (GRCm39) |
T1326A |
probably benign |
Het |
Peg3 |
A |
T |
7: 6,711,944 (GRCm39) |
C1093S |
probably damaging |
Het |
Pidd1 |
T |
C |
7: 141,019,813 (GRCm39) |
S650G |
probably benign |
Het |
Plec |
T |
C |
15: 76,060,227 (GRCm39) |
T3237A |
possibly damaging |
Het |
Prpf3 |
A |
T |
3: 95,741,052 (GRCm39) |
|
probably null |
Het |
Prpf4b |
C |
A |
13: 35,085,477 (GRCm39) |
H974Q |
probably benign |
Het |
Ptpn3 |
T |
C |
4: 57,225,863 (GRCm39) |
T451A |
probably benign |
Het |
Ptprs |
A |
G |
17: 56,724,429 (GRCm39) |
Y1577H |
probably damaging |
Het |
Rgr |
C |
T |
14: 36,770,882 (GRCm39) |
M1I |
probably null |
Het |
Rxrg |
A |
T |
1: 167,458,678 (GRCm39) |
N257I |
probably benign |
Het |
Sbno2 |
T |
C |
10: 79,922,146 (GRCm39) |
D9G |
probably damaging |
Het |
Scd1 |
T |
C |
19: 44,395,034 (GRCm39) |
K64E |
probably damaging |
Het |
Serpinb1a |
T |
A |
13: 33,034,308 (GRCm39) |
I28F |
possibly damaging |
Het |
Sfmbt2 |
A |
T |
2: 10,406,818 (GRCm39) |
E39V |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,900,897 (GRCm39) |
M89T |
possibly damaging |
Het |
Slco4a1 |
T |
A |
2: 180,113,856 (GRCm39) |
V431E |
possibly damaging |
Het |
Smg1 |
C |
T |
7: 117,752,131 (GRCm39) |
C2698Y |
unknown |
Het |
Sptlc2 |
C |
T |
12: 87,397,151 (GRCm39) |
D212N |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,657,899 (GRCm39) |
T334A |
possibly damaging |
Het |
Stim2 |
A |
T |
5: 54,156,263 (GRCm39) |
D13V |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,181,592 (GRCm39) |
W4248R |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,627,953 (GRCm39) |
Y584H |
probably benign |
Het |
Thoc6 |
C |
A |
17: 23,892,634 (GRCm39) |
|
probably null |
Het |
Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,850,329 (GRCm39) |
Q1245L |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,994 (GRCm39) |
D661G |
probably benign |
Het |
Ttll8 |
C |
A |
15: 88,799,630 (GRCm39) |
V604L |
probably damaging |
Het |
Ubtfl1 |
A |
G |
9: 18,320,931 (GRCm39) |
D153G |
probably damaging |
Het |
Ufsp2 |
C |
A |
8: 46,436,661 (GRCm39) |
N137K |
probably benign |
Het |
Ugt2a3 |
A |
G |
5: 87,473,393 (GRCm39) |
I508T |
possibly damaging |
Het |
Uso1 |
G |
A |
5: 92,306,324 (GRCm39) |
E94K |
probably benign |
Het |
Usp54 |
A |
G |
14: 20,611,310 (GRCm39) |
S1169P |
probably benign |
Het |
Vmn1r235 |
C |
T |
17: 21,482,292 (GRCm39) |
P206S |
probably benign |
Het |
Vmn1r69 |
T |
C |
7: 10,314,995 (GRCm39) |
|
probably benign |
Het |
Zfp263 |
T |
A |
16: 3,567,255 (GRCm39) |
C523* |
probably null |
Het |
Zfp799 |
G |
T |
17: 33,039,210 (GRCm39) |
T352K |
probably benign |
Het |
Zfr |
T |
A |
15: 12,180,724 (GRCm39) |
V951E |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,330,926 (GRCm39) |
D431G |
probably benign |
Het |
Zswim9 |
C |
A |
7: 12,993,664 (GRCm39) |
A831S |
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 |
R7161:Pik3c2b
|
UTSW |
1 |
133,033,850 (GRCm39) |
missense |
probably damaging |
0.98 |
R7183:Pik3c2b
|
UTSW |
1 |
132,994,203 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AGGCTCTAACCTCTTTTGCAGC -3'
(R):5'- ATACTAGACCAAGGCCACAGGG -3'
Sequencing Primer
(F):5'- GATCGGCTCCCTCTCAGATG -3'
(R):5'- CCACAGGGAAGATGAGCAACATC -3'
|
Posted On |
2019-05-15 |