Incidental Mutation 'IGL01623:Pik3r5'
ID |
278709 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3r5
|
Ensembl Gene |
ENSMUSG00000020901 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
Synonyms |
p101, Foap2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
IGL01623
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 68377452 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 null
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 |
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
G |
A |
14: 35,532,024 (GRCm39) |
Q184* |
probably null |
Het |
A1bg |
A |
C |
15: 60,789,742 (GRCm39) |
I502S |
possibly damaging |
Het |
Actl11 |
T |
C |
9: 107,805,775 (GRCm39) |
S33P |
probably benign |
Het |
Aftph |
G |
T |
11: 20,659,632 (GRCm39) |
D730E |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,767,773 (GRCm39) |
|
probably benign |
Het |
Brf1 |
T |
G |
12: 112,924,795 (GRCm39) |
E643A |
probably benign |
Het |
Caskin1 |
G |
T |
17: 24,722,914 (GRCm39) |
|
probably null |
Het |
Ccnjl |
T |
C |
11: 43,476,154 (GRCm39) |
V259A |
probably benign |
Het |
Ccser2 |
G |
T |
14: 36,662,920 (GRCm39) |
T88K |
probably benign |
Het |
Cdk17 |
T |
C |
10: 93,074,824 (GRCm39) |
|
probably benign |
Het |
Clec16a |
G |
A |
16: 10,395,774 (GRCm39) |
S309N |
possibly damaging |
Het |
Cpxm1 |
C |
A |
2: 130,233,191 (GRCm39) |
A633S |
probably benign |
Het |
Ctnnbl1 |
A |
T |
2: 157,661,468 (GRCm39) |
N326I |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,318,234 (GRCm39) |
V215A |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,121,701 (GRCm39) |
Y1427C |
probably damaging |
Het |
Dpy19l3 |
G |
A |
7: 35,422,169 (GRCm39) |
T228I |
probably damaging |
Het |
Fam131c |
C |
T |
4: 141,109,761 (GRCm39) |
A131V |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,482,592 (GRCm39) |
T3061A |
possibly damaging |
Het |
Fgl2 |
T |
A |
5: 21,578,175 (GRCm39) |
L154H |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,340,544 (GRCm39) |
T946A |
probably benign |
Het |
Gan |
T |
A |
8: 117,913,917 (GRCm39) |
V105D |
probably damaging |
Het |
Garin5b |
A |
G |
7: 4,761,722 (GRCm39) |
V330A |
probably benign |
Het |
Gm28043 |
T |
C |
17: 29,895,222 (GRCm39) |
F134L |
probably benign |
Het |
Gramd1c |
A |
G |
16: 43,811,061 (GRCm39) |
V221A |
probably damaging |
Het |
Hacd1 |
A |
G |
2: 14,040,667 (GRCm39) |
V196A |
probably benign |
Het |
Kcna6 |
C |
A |
6: 126,715,576 (GRCm39) |
V438L |
probably damaging |
Het |
Klhl41 |
T |
C |
2: 69,508,582 (GRCm39) |
V512A |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,111 (GRCm39) |
T502A |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,377,844 (GRCm39) |
F105I |
possibly damaging |
Het |
Or4b13 |
T |
G |
2: 90,082,953 (GRCm39) |
K126N |
probably damaging |
Het |
Or5m10 |
A |
T |
2: 85,717,306 (GRCm39) |
H54L |
probably benign |
Het |
P3h1 |
C |
T |
4: 119,092,480 (GRCm39) |
T171I |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,399,366 (GRCm39) |
E439G |
possibly damaging |
Het |
Pik3c3 |
A |
T |
18: 30,423,578 (GRCm39) |
K225* |
probably null |
Het |
Pik3c3 |
A |
G |
18: 30,426,102 (GRCm39) |
|
probably benign |
Het |
Pnpt1 |
A |
C |
11: 29,098,272 (GRCm39) |
|
probably benign |
Het |
Ppp2r1b |
T |
A |
9: 50,789,422 (GRCm39) |
V495D |
probably damaging |
Het |
Rbfox3 |
C |
A |
11: 118,396,440 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
G |
A |
11: 4,053,966 (GRCm39) |
P234S |
possibly damaging |
Het |
Sec16a |
A |
C |
2: 26,328,915 (GRCm39) |
D1033E |
probably benign |
Het |
Septin14 |
A |
G |
5: 129,763,019 (GRCm39) |
V357A |
probably damaging |
Het |
Setx |
T |
C |
2: 29,053,021 (GRCm39) |
V2095A |
possibly damaging |
Het |
Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
Snrpa |
A |
T |
7: 26,892,395 (GRCm39) |
M55K |
probably benign |
Het |
Swt1 |
G |
T |
1: 151,286,760 (GRCm39) |
T244N |
probably benign |
Het |
Tbl1xr1 |
A |
G |
3: 22,246,238 (GRCm39) |
T253A |
probably benign |
Het |
Tst |
G |
T |
15: 78,283,964 (GRCm39) |
R288S |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,910 (GRCm39) |
I238V |
probably benign |
Het |
Zbtb14 |
A |
G |
17: 69,695,184 (GRCm39) |
K294R |
probably benign |
Het |
Zfp710 |
T |
A |
7: 79,730,871 (GRCm39) |
V16E |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,965,320 (GRCm39) |
T602A |
probably benign |
Het |
Zfr2 |
G |
A |
10: 81,087,193 (GRCm39) |
M850I |
probably benign |
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 |
|
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 |
R4588:Pik3r5
|
UTSW |
11 |
68,384,087 (GRCm39) |
intron |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |