Incidental Mutation 'R4588:Pik3r5'
| ID |
342628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
042007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 68384087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021283
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI3K_1B_p101
|
6 |
871 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155887
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced neutrophil chemotaxis and chemokinesis in vitro and impaired neutrophil recruitment into the peritoneum in a model of thioglycollate-induced aseptic peritonitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,833,701 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
T |
5: 8,997,328 (GRCm39) |
I936F |
probably benign |
Het |
| Adnp2 |
G |
T |
18: 80,171,863 (GRCm39) |
L849I |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,576,692 (GRCm39) |
S1032P |
probably benign |
Het |
| Atr |
A |
C |
9: 95,747,720 (GRCm39) |
D334A |
probably benign |
Het |
| Atrip |
A |
T |
9: 108,889,347 (GRCm39) |
D20E |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,096,268 (GRCm38) |
C43* |
probably null |
Het |
| Cfap65 |
C |
A |
1: 74,943,215 (GRCm39) |
Q1603H |
possibly damaging |
Het |
| Cpne5 |
T |
C |
17: 29,383,687 (GRCm39) |
I327V |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,676,070 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,994 (GRCm39) |
L444Q |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,405,248 (GRCm39) |
M2431I |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,266,003 (GRCm39) |
H122L |
probably benign |
Het |
| Defa21 |
C |
T |
8: 21,515,664 (GRCm39) |
P21S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,149 (GRCm39) |
V77A |
probably damaging |
Het |
| Ermap |
C |
A |
4: 119,045,445 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
A |
12: 65,165,215 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
T |
A |
9: 69,941,512 (GRCm39) |
D352V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,395,181 (GRCm39) |
M428T |
possibly damaging |
Het |
| Igtp |
T |
A |
11: 58,097,508 (GRCm39) |
N226K |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,142,694 (GRCm39) |
H1675L |
probably benign |
Het |
| Lipo4 |
G |
A |
19: 33,476,647 (GRCm39) |
P367L |
possibly damaging |
Het |
| Lzts3 |
T |
C |
2: 130,476,686 (GRCm39) |
*587W |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,233,251 (GRCm39) |
K300* |
probably null |
Het |
| Mepce |
G |
A |
5: 137,783,534 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mif4gd |
A |
T |
11: 115,500,372 (GRCm39) |
I62N |
probably damaging |
Het |
| Or14a260 |
C |
T |
7: 85,984,852 (GRCm39) |
V251I |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,383 (GRCm39) |
*324K |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,015 (GRCm39) |
K509R |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,859,647 (GRCm39) |
T821A |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,271,092 (GRCm39) |
T3154A |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,732,534 (GRCm39) |
Y438H |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,734,025 (GRCm39) |
D70E |
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,544,111 (GRCm39) |
I831L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,980,921 (GRCm39) |
H420R |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,446,677 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,302,632 (GRCm39) |
T208A |
probably benign |
Het |
| Sparc |
T |
C |
11: 55,296,062 (GRCm39) |
M121V |
probably benign |
Het |
| Sstr1 |
G |
T |
12: 58,260,417 (GRCm39) |
A347S |
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,879,402 (GRCm39) |
V693F |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,972,681 (GRCm39) |
V307A |
probably benign |
Het |
| Trmt1 |
A |
G |
8: 85,417,382 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,243,760 (GRCm39) |
S1255P |
probably benign |
Het |
| Ube2ql1 |
A |
C |
13: 69,887,276 (GRCm39) |
S62A |
unknown |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,809 (GRCm39) |
M804L |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,562,306 (GRCm39) |
E467G |
probably damaging |
Het |
|
| Other mutations in Pik3r5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01345:Pik3r5
|
APN |
11 |
68,387,020 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01400:Pik3r5
|
APN |
11 |
68,385,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01597:Pik3r5
|
APN |
11 |
68,386,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Pik3r5
|
APN |
11 |
68,377,452 (GRCm39) |
splice site |
probably null |
|
|
IGL01623:Pik3r5
|
APN |
11 |
68,377,452 (GRCm39) |
splice site |
probably null |
|
|
IGL01878:Pik3r5
|
APN |
11 |
68,383,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01953:Pik3r5
|
APN |
11 |
68,384,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02056:Pik3r5
|
APN |
11 |
68,381,681 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02345:Pik3r5
|
APN |
11 |
68,383,552 (GRCm39) |
missense |
probably benign |
0.03 |
|
palmetto
|
UTSW |
11 |
68,385,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Palmito
|
UTSW |
11 |
68,382,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
palms
|
UTSW |
11 |
68,377,448 (GRCm39) |
critical splice donor site |
probably null |
|
|
piranha
|
UTSW |
11 |
68,377,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Serenoa_repens
|
UTSW |
11 |
68,366,250 (GRCm39) |
nonsense |
probably null |
|
|
IGL02799:Pik3r5
|
UTSW |
11 |
68,386,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0077:Pik3r5
|
UTSW |
11 |
68,377,448 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0092:Pik3r5
|
UTSW |
11 |
68,383,629 (GRCm39) |
missense |
probably benign |
|
|
R0105:Pik3r5
|
UTSW |
11 |
68,381,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0118:Pik3r5
|
UTSW |
11 |
68,381,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1204:Pik3r5
|
UTSW |
11 |
68,385,050 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1447:Pik3r5
|
UTSW |
11 |
68,385,003 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1865:Pik3r5
|
UTSW |
11 |
68,383,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Pik3r5
|
UTSW |
11 |
68,384,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2356:Pik3r5
|
UTSW |
11 |
68,383,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Pik3r5
|
UTSW |
11 |
68,386,030 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4960:Pik3r5
|
UTSW |
11 |
68,384,464 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5217:Pik3r5
|
UTSW |
11 |
68,382,790 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5518:Pik3r5
|
UTSW |
11 |
68,368,294 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5528:Pik3r5
|
UTSW |
11 |
68,386,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Pik3r5
|
UTSW |
11 |
68,385,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Pik3r5
|
UTSW |
11 |
68,385,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Pik3r5
|
UTSW |
11 |
68,383,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Pik3r5
|
UTSW |
11 |
68,383,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6168:Pik3r5
|
UTSW |
11 |
68,383,501 (GRCm39) |
missense |
probably benign |
|
|
R6243:Pik3r5
|
UTSW |
11 |
68,382,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Pik3r5
|
UTSW |
11 |
68,383,567 (GRCm39) |
missense |
probably benign |
|
|
R6420:Pik3r5
|
UTSW |
11 |
68,366,250 (GRCm39) |
nonsense |
probably null |
|
|
R6505:Pik3r5
|
UTSW |
11 |
68,383,615 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6534:Pik3r5
|
UTSW |
11 |
68,381,443 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6817:Pik3r5
|
UTSW |
11 |
68,377,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Pik3r5
|
UTSW |
11 |
68,383,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7459:Pik3r5
|
UTSW |
11 |
68,383,416 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7527:Pik3r5
|
UTSW |
11 |
68,367,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7739:Pik3r5
|
UTSW |
11 |
68,381,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Pik3r5
|
UTSW |
11 |
68,384,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7877:Pik3r5
|
UTSW |
11 |
68,381,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Pik3r5
|
UTSW |
11 |
68,383,528 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7960:Pik3r5
|
UTSW |
11 |
68,386,796 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8816:Pik3r5
|
UTSW |
11 |
68,385,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Pik3r5
|
UTSW |
11 |
68,385,104 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9131:Pik3r5
|
UTSW |
11 |
68,383,099 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9649:Pik3r5
|
UTSW |
11 |
68,381,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9706:Pik3r5
|
UTSW |
11 |
68,381,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pik3r5
|
UTSW |
11 |
68,383,722 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTTAGAGCCCACCTGGAG -3'
(R):5'- CCATCTTTGTCATGTGGCAG -3'
Sequencing Primer
(F):5'- ACCTGGAGTCCTGACGTCAC -3'
(R):5'- ATGTGGCAGAATGTCCTACC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation