Incidental Mutation 'R2356:Pik3r5'
| ID |
246950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
040338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R2356 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68383743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 521
(S521P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021283
AA Change: S521P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: S521P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
G |
T |
16: 20,379,249 (GRCm39) |
R705L |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,494,897 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
T |
8: 23,575,688 (GRCm39) |
T145S |
probably damaging |
Het |
| Aph1a |
T |
C |
3: 95,801,544 (GRCm39) |
F21S |
probably benign |
Het |
| Apoa5 |
T |
A |
9: 46,181,341 (GRCm39) |
V139E |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,900,851 (GRCm39) |
K595R |
probably damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,565,930 (GRCm39) |
P967L |
probably benign |
Het |
| Atp13a5 |
A |
T |
16: 29,099,887 (GRCm39) |
I683N |
probably damaging |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,908 (GRCm39) |
V199A |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,742,570 (GRCm39) |
C94Y |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,268,559 (GRCm39) |
G155D |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,251 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dapp1 |
A |
G |
3: 137,643,510 (GRCm39) |
V184A |
possibly damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,699,155 (GRCm39) |
S276A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,220,496 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,315,026 (GRCm39) |
F278Y |
probably damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,992 (GRCm39) |
F23S |
probably benign |
Het |
| En2 |
G |
T |
5: 28,371,330 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,117,755 (GRCm39) |
M887L |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,253,738 (GRCm39) |
M482V |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,441,164 (GRCm39) |
I571V |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,394,897 (GRCm39) |
G650D |
probably benign |
Het |
| Gm8225 |
T |
C |
17: 26,762,378 (GRCm39) |
S190P |
probably damaging |
Het |
| Gpx5 |
G |
C |
13: 21,475,538 (GRCm39) |
H63D |
possibly damaging |
Het |
| Ipo9 |
A |
T |
1: 135,334,555 (GRCm39) |
S285T |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,204,952 (GRCm39) |
H495R |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
| Krtap8-1 |
A |
T |
16: 89,284,789 (GRCm39) |
Y3N |
possibly damaging |
Het |
| Krtap8-1 |
G |
T |
16: 89,284,790 (GRCm39) |
Y2* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,109 (GRCm39) |
L2468Q |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,124,381 (GRCm39) |
L280S |
probably damaging |
Het |
| Matk |
G |
A |
10: 81,097,377 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,001,026 (GRCm39) |
T434A |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,795,069 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,563 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,970,863 (GRCm39) |
I282N |
probably damaging |
Het |
| Ncln |
A |
G |
10: 81,328,756 (GRCm39) |
V174A |
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,582,714 (GRCm39) |
H344Y |
probably benign |
Het |
| Nlrp4g |
A |
G |
9: 124,349,306 (GRCm38) |
|
noncoding transcript |
Het |
| Or56b1 |
G |
T |
7: 104,285,834 (GRCm39) |
E318* |
probably null |
Het |
| Or6c38 |
T |
C |
10: 128,929,761 (GRCm39) |
I27M |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,396,415 (GRCm39) |
T1979M |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,158 (GRCm39) |
D464A |
probably damaging |
Het |
| Ppp4r1 |
T |
A |
17: 66,140,045 (GRCm39) |
Y648N |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
A |
16: 15,502,068 (GRCm39) |
H828Q |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,598,984 (GRCm39) |
Y69* |
probably null |
Het |
| Prx |
C |
T |
7: 27,207,284 (GRCm39) |
|
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,319,530 (GRCm39) |
S7T |
possibly damaging |
Het |
| Psmd14 |
A |
T |
2: 61,630,351 (GRCm39) |
H287L |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,076,226 (GRCm39) |
Y297H |
probably damaging |
Het |
| Rnf40 |
T |
G |
7: 127,190,748 (GRCm39) |
V272G |
probably damaging |
Het |
| Serpina3f |
G |
T |
12: 104,183,626 (GRCm39) |
E163* |
probably null |
Het |
| Setd4 |
G |
A |
16: 93,387,871 (GRCm39) |
T205I |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,274 (GRCm39) |
T646S |
probably benign |
Het |
| Smg8 |
G |
C |
11: 86,976,554 (GRCm39) |
S342R |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,119,789 (GRCm39) |
V4407A |
possibly damaging |
Het |
| Trhde |
T |
C |
10: 114,237,421 (GRCm39) |
Y986C |
probably damaging |
Het |
| Tulp2 |
A |
T |
7: 45,168,052 (GRCm39) |
T155S |
possibly damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,120 (GRCm39) |
L71* |
probably null |
Het |
| Wnk2 |
A |
T |
13: 49,192,644 (GRCm39) |
C2032* |
probably null |
Het |
| Zfp429 |
A |
G |
13: 67,538,746 (GRCm39) |
Y233H |
probably benign |
Het |
| Zfp809 |
C |
A |
9: 22,154,336 (GRCm39) |
T351K |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGTTAGTCCTGAGGAG -3'
(R):5'- AGGATAGGGTGACTGGTCTC -3'
Sequencing Primer
(F):5'- GAGCAGTGTAGACCCAACCCTG -3'
(R):5'- TGGTCTCCAGCCTCCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation