Incidental Mutation 'R7246:Pik3r5'
| ID |
563556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
045309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 68383769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 529
(S529R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021283
AA Change: S529R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: S529R
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (74/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,902 (GRCm39) |
S318R |
probably damaging |
Het |
| Abce1 |
A |
T |
8: 80,429,698 (GRCm39) |
N74K |
probably damaging |
Het |
| Akr1b7 |
T |
A |
6: 34,392,404 (GRCm39) |
D72E |
probably benign |
Het |
| Amer3 |
T |
A |
1: 34,625,809 (GRCm39) |
I16N |
possibly damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,257,606 (GRCm39) |
N108D |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,528,008 (GRCm39) |
V177A |
probably damaging |
Het |
| B020011L13Rik |
A |
T |
1: 117,728,969 (GRCm39) |
K159* |
probably null |
Het |
| Bpifb1 |
T |
C |
2: 154,049,012 (GRCm39) |
L172P |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,414,204 (GRCm39) |
T1310I |
probably benign |
Het |
| C130074G19Rik |
C |
A |
1: 184,615,166 (GRCm39) |
R8L |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,242,811 (GRCm39) |
H268R |
possibly damaging |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,473 (GRCm39) |
V105A |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,483,180 (GRCm39) |
L245P |
probably damaging |
Het |
| Crtac1 |
T |
C |
19: 42,276,365 (GRCm39) |
E521G |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,503,394 (GRCm39) |
N190I |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,972,993 (GRCm39) |
E1368G |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,666,266 (GRCm39) |
M89K |
possibly damaging |
Het |
| Dpp10 |
G |
A |
1: 123,262,106 (GRCm39) |
P759S |
probably damaging |
Het |
| Etf1 |
A |
G |
18: 35,064,964 (GRCm39) |
S11P |
unknown |
Het |
| Exd2 |
G |
T |
12: 80,527,309 (GRCm39) |
L167F |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,623,156 (GRCm39) |
R404* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,844,136 (GRCm39) |
|
|
Het |
| Gtf3c1 |
T |
A |
7: 125,268,266 (GRCm39) |
|
|
Het |
| Id2 |
T |
A |
12: 25,145,820 (GRCm39) |
I64F |
probably damaging |
Het |
| Idh3a |
G |
T |
9: 54,499,756 (GRCm39) |
A75S |
probably damaging |
Het |
| Ift70a2 |
A |
G |
2: 75,808,023 (GRCm39) |
L163P |
probably damaging |
Het |
| Itgb8 |
C |
G |
12: 119,131,785 (GRCm39) |
G620A |
probably damaging |
Het |
| Itih5 |
T |
A |
2: 10,191,873 (GRCm39) |
|
probably null |
Het |
| Lamtor5 |
A |
T |
3: 107,189,336 (GRCm39) |
D124V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,930,511 (GRCm39) |
E439G |
probably damaging |
Het |
| Meltf |
T |
G |
16: 31,713,680 (GRCm39) |
L641R |
probably damaging |
Het |
| Mesd |
G |
T |
7: 83,541,420 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
T |
4: 97,953,579 (GRCm39) |
P439L |
probably damaging |
Het |
| Nptx1 |
A |
T |
11: 119,435,416 (GRCm39) |
|
probably null |
Het |
| Or1o3 |
A |
T |
17: 37,573,905 (GRCm39) |
C217S |
probably benign |
Het |
| Or2j6 |
T |
A |
7: 139,980,061 (GRCm39) |
R299S |
probably benign |
Het |
| Or5t7 |
A |
G |
2: 86,507,633 (GRCm39) |
F15L |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,286,761 (GRCm39) |
Q139* |
probably null |
Het |
| Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,590 (GRCm39) |
S175P |
possibly damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,551 (GRCm39) |
W86R |
probably benign |
Het |
| Ppid |
C |
T |
3: 79,498,740 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,322,509 (GRCm39) |
D85V |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,732 (GRCm39) |
T1412I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,046,913 (GRCm39) |
Y204C |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,168,835 (GRCm39) |
R48* |
probably null |
Het |
| Rbks |
A |
G |
5: 31,805,127 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rnf113a2 |
G |
T |
12: 84,464,451 (GRCm39) |
M114I |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGCCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,169,093 (GRCm39) |
S175P |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,270,262 (GRCm39) |
L261Q |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,233,023 (GRCm39) |
I593V |
probably benign |
Het |
| Suclg1 |
C |
T |
6: 73,253,696 (GRCm39) |
H115Y |
unknown |
Het |
| Syde2 |
T |
A |
3: 145,694,510 (GRCm39) |
C253S |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,427,182 (GRCm39) |
I322N |
probably damaging |
Het |
| Tesmin |
C |
T |
19: 3,456,965 (GRCm39) |
A428V |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,405 (GRCm39) |
T488S |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,170,261 (GRCm39) |
V876E |
probably damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,910 (GRCm39) |
I1246K |
unknown |
Het |
| Usp47 |
T |
A |
7: 111,715,116 (GRCm39) |
|
|
Het |
| Vmn1r192 |
C |
T |
13: 22,371,944 (GRCm39) |
R92Q |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,695 (GRCm39) |
T601A |
probably damaging |
Het |
| Vmn2r51 |
A |
G |
7: 9,836,428 (GRCm39) |
F118L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,605,173 (GRCm39) |
I492L |
probably benign |
Het |
| Vmn2r93 |
C |
T |
17: 18,546,012 (GRCm39) |
T628I |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,882,620 (GRCm39) |
R991K |
|
Het |
| Wdr5b |
T |
C |
16: 35,862,306 (GRCm39) |
S142P |
probably damaging |
Het |
| Zfp428 |
G |
T |
7: 24,215,069 (GRCm39) |
|
probably null |
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 |
|
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'- AGAGCAGTGTAGACCCAACC -3'
(R):5'- TTCACAGGCACATAGAAGAACTG -3'
Sequencing Primer
(F):5'- AACCCTGCCTCTGCGAAG -3'
(R):5'- GCACATAGAAGAACTGAAGCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation