Incidental Mutation 'R7885:Pik3r5'
| ID |
609019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
045937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68383528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 449
(A449V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021283
AA Change: A449V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: A449V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI3K_1B_p101
|
6 |
871 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,131,542 (GRCm39) |
V649A |
possibly damaging |
Het |
| Arglu1 |
C |
T |
8: 8,717,337 (GRCm39) |
R244H |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,812 (GRCm39) |
Y204F |
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,104,876 (GRCm39) |
F76S |
probably damaging |
Het |
| Bin1 |
G |
A |
18: 32,552,896 (GRCm39) |
A174T |
probably damaging |
Het |
| Bnipl |
A |
C |
3: 95,157,551 (GRCm39) |
S23A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,011,303 (GRCm39) |
T294A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,367,818 (GRCm39) |
V238I |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,451 (GRCm39) |
D957E |
probably benign |
Het |
| Crhbp |
T |
C |
13: 95,568,515 (GRCm39) |
Q307R |
probably damaging |
Het |
| Cst3 |
A |
G |
2: 148,714,741 (GRCm39) |
M112T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,189,425 (GRCm39) |
E276G |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,735,001 (GRCm39) |
N539K |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,345,429 (GRCm39) |
E85G |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,957,698 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,704,776 (GRCm39) |
Y26* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,148 (GRCm39) |
D802V |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,813 (GRCm39) |
V846A |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,964,840 (GRCm39) |
S1402T |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,388 (GRCm39) |
T73A |
unknown |
Het |
| Lrrc1 |
A |
T |
9: 77,349,471 (GRCm39) |
V365E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,393,868 (GRCm39) |
Q519L |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,107 (GRCm39) |
D36E |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,223,092 (GRCm39) |
D445V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,550,760 (GRCm39) |
S5178P |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,573,110 (GRCm39) |
I2491T |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,389,044 (GRCm39) |
I77T |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,109,474 (GRCm39) |
H701N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,041 (GRCm39) |
T242P |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,048,831 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pclo |
T |
TTCTAG |
5: 14,764,209 (GRCm39) |
|
probably null |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Pclo |
TCTAT |
TCTATACTAT |
5: 14,764,205 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
T |
C |
3: 94,906,387 (GRCm39) |
Y645H |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,261,736 (GRCm39) |
T45A |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,676 (GRCm39) |
K62R |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,111 (GRCm39) |
V410A |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,861,140 (GRCm39) |
A717T |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,882,422 (GRCm39) |
T2K |
probably benign |
Het |
| Ptpn12 |
A |
C |
5: 21,203,523 (GRCm39) |
S418R |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,642 (GRCm39) |
S255G |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,322,371 (GRCm39) |
L608P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,714,776 (GRCm39) |
H1581R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,530,577 (GRCm39) |
Y114C |
unknown |
Het |
| Ticam1 |
T |
C |
17: 56,578,067 (GRCm39) |
T343A |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,724 (GRCm39) |
K1259E |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,385 (GRCm39) |
F169I |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,673,312 (GRCm39) |
K425E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,089 (GRCm39) |
M746T |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,313,598 (GRCm39) |
I149T |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,193 (GRCm39) |
D62E |
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 |
|
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 |
|
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'- AGGAAAACTCAGAGTGGCCC -3'
(R):5'- TTCCCTGAAATCCGATCAGAG -3'
Sequencing Primer
(F):5'- TCAGAGTGGCCCCAAAAGC -3'
(R):5'- CAACCCGTAGTGTGGAAGCTTTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation