Incidental Mutation 'R5693:Pik3r5'
| ID |
443782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
043180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5693 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68385077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 661
(R661C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021283
AA Change: R661C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: R661C
| 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: 95.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,266,233 (GRCm39) |
I3071V |
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Abr |
T |
C |
11: 76,354,403 (GRCm39) |
N236S |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,501,870 (GRCm39) |
Y248C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Chd6 |
A |
T |
2: 160,807,185 (GRCm39) |
S2010T |
probably benign |
Het |
| Dcc |
G |
A |
18: 71,708,153 (GRCm39) |
T521I |
probably damaging |
Het |
| Dmrtb1 |
G |
A |
4: 107,541,366 (GRCm39) |
|
probably benign |
Het |
| Evc |
A |
G |
5: 37,477,584 (GRCm39) |
V365A |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,478,594 (GRCm39) |
Y2H |
probably damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,621 (GRCm39) |
N437S |
probably damaging |
Het |
| Lifr |
T |
C |
15: 7,205,041 (GRCm39) |
V426A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,320 (GRCm39) |
I122M |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,597,181 (GRCm39) |
N3174D |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,173,462 (GRCm39) |
R534H |
probably damaging |
Het |
| Nectin2 |
T |
C |
7: 19,458,794 (GRCm39) |
D339G |
probably benign |
Het |
| Oprd1 |
G |
A |
4: 131,871,721 (GRCm39) |
|
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,396 (GRCm39) |
D178G |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,470,276 (GRCm39) |
V751I |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,013,526 (GRCm39) |
S175P |
probably damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Prkar1b |
A |
G |
5: 139,113,400 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ptprf |
G |
A |
4: 118,093,374 (GRCm39) |
R90* |
probably null |
Het |
| Rasef |
T |
C |
4: 73,688,076 (GRCm39) |
M26V |
probably damaging |
Het |
| Rfx1 |
C |
A |
8: 84,800,533 (GRCm39) |
Q45K |
unknown |
Het |
| Rnf183 |
A |
G |
4: 62,346,753 (GRCm39) |
V15A |
possibly damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,155,128 (GRCm39) |
C19F |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,190,229 (GRCm39) |
I907F |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,485,318 (GRCm39) |
I293V |
probably benign |
Het |
| Srcap |
C |
A |
7: 127,118,988 (GRCm39) |
A97E |
probably damaging |
Het |
| Thyn1 |
G |
T |
9: 26,916,511 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,913 (GRCm39) |
I634T |
possibly damaging |
Het |
| Tjp1 |
G |
A |
7: 64,992,411 (GRCm39) |
A156V |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,320 (GRCm39) |
M349V |
probably benign |
Het |
| Tyro3 |
T |
G |
2: 119,641,349 (GRCm39) |
F519L |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,646 (GRCm39) |
Y123* |
probably null |
Het |
| Vmn1r183 |
C |
T |
7: 23,754,227 (GRCm39) |
T10I |
possibly damaging |
Het |
| Zfp654 |
T |
C |
16: 64,606,289 (GRCm39) |
T97A |
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 |
|
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'- TGATACATTGGGCTCCCTGC -3'
(R):5'- ACGAAAGTCAGTGTGGGACC -3'
Sequencing Primer
(F):5'- TGCCCAACACTGTGTCCAG -3'
(R):5'- TCAGTGTGGGACCCCGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation