Incidental Mutation 'R4595:Pik3cb'
| ID |
344330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3cb
|
| Ensembl Gene |
ENSMUSG00000032462 |
| Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
| Synonyms |
1110001J02Rik, p110beta |
| MMRRC Submission |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
98920455-99022264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98937459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 745
(Y745H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035037]
[ENSMUST00000136965]
|
| AlphaFold |
Q8BTI9 |
| PDB Structure |
CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]
Discovery and Optimization of Pyrimidone Indoline Amide PI3Kbeta Inhibitors for the Treatment of Phosphatase and TENsin homologue (PTEN)-Deficient Cancers [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035037
AA Change: Y745H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: Y745H
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
35 |
112 |
2.44e-50 |
SMART |
|
PI3K_rbd
|
174 |
282 |
1.88e-42 |
SMART |
|
low complexity region
|
305 |
311 |
N/A |
INTRINSIC |
|
PI3K_C2
|
315 |
417 |
4.64e-33 |
SMART |
|
PI3Ka
|
519 |
705 |
1.08e-92 |
SMART |
|
PI3Kc
|
795 |
1061 |
8.75e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136965
|
| SMART Domains |
Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
35 |
112 |
2.44e-50 |
SMART |
|
PI3K_rbd
|
174 |
282 |
1.88e-42 |
SMART |
|
low complexity region
|
305 |
311 |
N/A |
INTRINSIC |
|
PI3K_C2
|
315 |
417 |
4.64e-33 |
SMART |
|
Blast:PI3Ka
|
450 |
520 |
1e-37 |
BLAST |
|
| Meta Mutation Damage Score |
0.0674 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia. Mice homozygous for a different knock-out allele die prior to E8.5 [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
probably damaging |
Het |
|
| Other mutations in Pik3cb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00933:Pik3cb
|
APN |
9 |
98,983,339 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01354:Pik3cb
|
APN |
9 |
98,946,221 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02132:Pik3cb
|
APN |
9 |
98,953,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02268:Pik3cb
|
APN |
9 |
98,928,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02376:Pik3cb
|
APN |
9 |
98,934,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02378:Pik3cb
|
APN |
9 |
98,944,893 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02748:Pik3cb
|
APN |
9 |
98,945,021 (GRCm39) |
splice site |
probably benign |
|
|
IGL03038:Pik3cb
|
APN |
9 |
98,947,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03142:Pik3cb
|
APN |
9 |
98,947,615 (GRCm39) |
missense |
probably benign |
0.10 |
|
H8786:Pik3cb
|
UTSW |
9 |
98,928,612 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0071:Pik3cb
|
UTSW |
9 |
98,926,918 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0071:Pik3cb
|
UTSW |
9 |
98,926,918 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0305:Pik3cb
|
UTSW |
9 |
98,946,129 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0464:Pik3cb
|
UTSW |
9 |
98,926,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0635:Pik3cb
|
UTSW |
9 |
98,946,271 (GRCm39) |
splice site |
probably benign |
|
|
R1386:Pik3cb
|
UTSW |
9 |
98,946,080 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1530:Pik3cb
|
UTSW |
9 |
98,936,026 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1802:Pik3cb
|
UTSW |
9 |
98,983,342 (GRCm39) |
nonsense |
probably null |
|
|
R1815:Pik3cb
|
UTSW |
9 |
98,975,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2011:Pik3cb
|
UTSW |
9 |
98,987,632 (GRCm39) |
nonsense |
probably null |
|
|
R2079:Pik3cb
|
UTSW |
9 |
98,942,257 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2153:Pik3cb
|
UTSW |
9 |
98,983,297 (GRCm39) |
nonsense |
probably null |
|
|
R2237:Pik3cb
|
UTSW |
9 |
98,923,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Pik3cb
|
UTSW |
9 |
98,923,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Pik3cb
|
UTSW |
9 |
98,943,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Pik3cb
|
UTSW |
9 |
98,928,654 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4009:Pik3cb
|
UTSW |
9 |
98,922,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4246:Pik3cb
|
UTSW |
9 |
98,983,229 (GRCm39) |
splice site |
probably null |
|
|
R4248:Pik3cb
|
UTSW |
9 |
98,983,229 (GRCm39) |
splice site |
probably null |
|
|
R4249:Pik3cb
|
UTSW |
9 |
98,983,229 (GRCm39) |
splice site |
probably null |
|
|
R4334:Pik3cb
|
UTSW |
9 |
98,943,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Pik3cb
|
UTSW |
9 |
98,921,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4568:Pik3cb
|
UTSW |
9 |
98,972,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4571:Pik3cb
|
UTSW |
9 |
98,972,310 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4599:Pik3cb
|
UTSW |
9 |
98,943,817 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4820:Pik3cb
|
UTSW |
9 |
98,955,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4887:Pik3cb
|
UTSW |
9 |
98,983,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4967:Pik3cb
|
UTSW |
9 |
98,987,685 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5029:Pik3cb
|
UTSW |
9 |
98,936,113 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5031:Pik3cb
|
UTSW |
9 |
98,953,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Pik3cb
|
UTSW |
9 |
98,970,716 (GRCm39) |
missense |
probably benign |
|
|
R5769:Pik3cb
|
UTSW |
9 |
98,975,212 (GRCm39) |
nonsense |
probably null |
|
|
R6128:Pik3cb
|
UTSW |
9 |
98,946,152 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6250:Pik3cb
|
UTSW |
9 |
98,976,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6354:Pik3cb
|
UTSW |
9 |
98,955,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6370:Pik3cb
|
UTSW |
9 |
98,922,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6664:Pik3cb
|
UTSW |
9 |
98,976,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6665:Pik3cb
|
UTSW |
9 |
98,955,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6751:Pik3cb
|
UTSW |
9 |
98,976,574 (GRCm39) |
missense |
probably benign |
|
|
R6781:Pik3cb
|
UTSW |
9 |
98,923,045 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6869:Pik3cb
|
UTSW |
9 |
98,942,312 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6883:Pik3cb
|
UTSW |
9 |
98,983,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Pik3cb
|
UTSW |
9 |
98,975,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Pik3cb
|
UTSW |
9 |
98,928,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Pik3cb
|
UTSW |
9 |
98,970,660 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7831:Pik3cb
|
UTSW |
9 |
98,970,666 (GRCm39) |
missense |
probably benign |
|
|
R8300:Pik3cb
|
UTSW |
9 |
98,928,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8837:Pik3cb
|
UTSW |
9 |
98,936,117 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8911:Pik3cb
|
UTSW |
9 |
98,946,201 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9299:Pik3cb
|
UTSW |
9 |
98,943,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Pik3cb
|
UTSW |
9 |
98,943,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Pik3cb
|
UTSW |
9 |
98,922,973 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9641:Pik3cb
|
UTSW |
9 |
98,955,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTCGGGCTTTCCTTCC -3'
(R):5'- TAGAGCTACTGGTGAATGTGACTG -3'
Sequencing Primer
(F):5'- CGTAGTTCCTTTGACTTCCTTGGG -3'
(R):5'- CAGGTGGAAGCACTCAA -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation