Incidental Mutation 'R7193:Pik3c2b'
| ID |
559697 |
| 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 |
045334-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R7193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132973410-133036429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133007512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 625
(H625Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077730]
|
| AlphaFold |
E9QAN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077730
AA Change: H625Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: H625Q
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,265,963 (GRCm39) |
|
probably null |
Het |
| Abca16 |
T |
C |
7: 120,026,409 (GRCm39) |
S124P |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,736,090 (GRCm39) |
S179C |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,630,967 (GRCm39) |
H319Q |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,945,635 (GRCm39) |
Q2535* |
probably null |
Het |
| Brpf3 |
T |
C |
17: 29,055,665 (GRCm39) |
*1205R |
probably null |
Het |
| Cabyr |
C |
A |
18: 12,884,815 (GRCm39) |
P434Q |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,300,057 (GRCm39) |
D2268Y |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,947,111 (GRCm39) |
T201A |
probably benign |
Het |
| Cdyl2 |
A |
C |
8: 117,350,733 (GRCm39) |
S133A |
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,774,204 (GRCm39) |
L14P |
possibly damaging |
Het |
| Cert1 |
T |
A |
13: 96,767,341 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
T |
16: 59,379,956 (GRCm39) |
S433T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,423 (GRCm39) |
K574R |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,084,792 (GRCm39) |
I527V |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,046,966 (GRCm39) |
N2142S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,450,870 (GRCm39) |
Y1506C |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,836,230 (GRCm39) |
S376C |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,292,258 (GRCm39) |
L530P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,525,331 (GRCm39) |
R3398G |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,836,905 (GRCm39) |
L587P |
probably damaging |
Het |
| Ints15 |
A |
G |
5: 143,293,598 (GRCm39) |
V293A |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,943,853 (GRCm39) |
Y39H |
probably benign |
Het |
| Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 141,728,980 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,880,669 (GRCm39) |
F186L |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,683 (GRCm39) |
K687N |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,130,441 (GRCm39) |
V24A |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,526,612 (GRCm39) |
E661G |
probably damaging |
Het |
| Nudt14 |
G |
T |
12: 112,902,940 (GRCm39) |
D28E |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,798 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,459,248 (GRCm39) |
C213S |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,485,987 (GRCm39) |
I4N |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,600 (GRCm39) |
V273E |
probably damaging |
Het |
| Pdk4 |
A |
T |
6: 5,487,089 (GRCm39) |
M319K |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,643,252 (GRCm39) |
N522S |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,207,817 (GRCm39) |
V234A |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,941,627 (GRCm39) |
S1117P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,907,464 (GRCm39) |
V36D |
probably damaging |
Het |
| Prep |
C |
T |
10: 44,968,795 (GRCm39) |
R98C |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,850,110 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
T |
A |
4: 62,533,573 (GRCm39) |
V138E |
probably damaging |
Het |
| Rnf185 |
T |
C |
11: 3,375,329 (GRCm39) |
T142A |
possibly damaging |
Het |
| Rsph6a |
C |
A |
7: 18,799,572 (GRCm39) |
P401Q |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,848,456 (GRCm39) |
T14S |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,317,042 (GRCm39) |
S841P |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,012,178 (GRCm39) |
L328Q |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,645,929 (GRCm39) |
V318M |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,639,489 (GRCm39) |
T902A |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,679 (GRCm39) |
H248R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,183,406 (GRCm39) |
Y4133C |
probably damaging |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,337 (GRCm39) |
T289M |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,588,943 (GRCm39) |
F1036Y |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,271,009 (GRCm39) |
C366R |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,772,756 (GRCm39) |
D1015V |
probably damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,966 (GRCm39) |
S696A |
probably benign |
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 |
|
R7183:Pik3c2b
|
UTSW |
1 |
132,994,203 (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'- GGCCCCTATTGAGTCCTAATGAG -3'
(R):5'- CTAGGCTCATCACCTTAGCC -3'
Sequencing Primer
(F):5'- AGTCCTAATGAGATTCTTTTCTGACC -3'
(R):5'- CCTGTGGCACCAGAATGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation