Incidental Mutation 'R0077:Pik3r5'
| ID |
19496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
038364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 68377448 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
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.5%
|
| Validation Efficiency |
83% (159/192) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,919,532 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,223,418 (GRCm39) |
I624V |
probably damaging |
Het |
| AI661453 |
A |
G |
17: 47,780,287 (GRCm39) |
|
probably benign |
Het |
| Alg12 |
C |
T |
15: 88,700,181 (GRCm39) |
E60K |
probably damaging |
Het |
| Angel2 |
A |
T |
1: 190,665,284 (GRCm39) |
N72Y |
possibly damaging |
Het |
| Ank1 |
C |
A |
8: 23,630,183 (GRCm39) |
P81Q |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,371,613 (GRCm39) |
D61E |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,103,254 (GRCm39) |
M83K |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,090,072 (GRCm39) |
I642V |
probably benign |
Het |
| Ccdc134 |
T |
C |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
| Ccr3 |
C |
T |
9: 123,829,061 (GRCm39) |
T132I |
probably damaging |
Het |
| Cfap65 |
C |
A |
1: 74,971,077 (GRCm39) |
W80C |
probably damaging |
Het |
| Chaf1a |
T |
A |
17: 56,354,384 (GRCm39) |
I218K |
unknown |
Het |
| Ddx23 |
A |
G |
15: 98,554,481 (GRCm39) |
|
probably null |
Het |
| Dmkn |
A |
G |
7: 30,464,719 (GRCm39) |
S231G |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,525,514 (GRCm39) |
I1446T |
unknown |
Het |
| Fmnl1 |
T |
C |
11: 103,080,795 (GRCm39) |
F318S |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,722,805 (GRCm39) |
V497E |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,242,925 (GRCm39) |
Y380H |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,907,990 (GRCm39) |
|
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,358 (GRCm39) |
I167V |
probably damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,527,700 (GRCm39) |
N884I |
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,382,159 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
G |
T |
15: 101,939,409 (GRCm39) |
R294L |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,029,389 (GRCm39) |
M1K |
probably null |
Het |
| Lingo2 |
G |
A |
4: 35,708,375 (GRCm39) |
S535F |
possibly damaging |
Het |
| Lrba |
A |
C |
3: 86,449,995 (GRCm39) |
N2105H |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,419 (GRCm39) |
D31G |
probably damaging |
Het |
| Lrrtm1 |
T |
A |
6: 77,220,855 (GRCm39) |
V104E |
probably damaging |
Het |
| Mgat3 |
C |
T |
15: 80,096,778 (GRCm39) |
T535I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,552,503 (GRCm39) |
I1780V |
possibly damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,826 (GRCm39) |
W186R |
probably damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,024,117 (GRCm39) |
F441I |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,942,347 (GRCm39) |
|
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,179,501 (GRCm39) |
F10L |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,932,707 (GRCm39) |
S92P |
probably benign |
Het |
| Or56b34 |
T |
C |
7: 104,937,726 (GRCm39) |
V142A |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,442 (GRCm39) |
N42S |
possibly damaging |
Het |
| Osr1 |
A |
T |
12: 9,629,691 (GRCm39) |
Y188F |
probably damaging |
Het |
| Pak2 |
A |
T |
16: 31,852,661 (GRCm39) |
N293K |
possibly damaging |
Het |
| Pappa |
A |
T |
4: 65,226,049 (GRCm39) |
T1301S |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,660,442 (GRCm39) |
Q679* |
probably null |
Het |
| Plbd2 |
C |
T |
5: 120,624,104 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
G |
T |
6: 14,754,516 (GRCm39) |
P244T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,985 (GRCm39) |
R960S |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,315,169 (GRCm39) |
Y845H |
probably damaging |
Het |
| Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
| Rdh1 |
A |
T |
10: 127,595,906 (GRCm39) |
I34F |
probably damaging |
Het |
| Rgl3 |
T |
A |
9: 21,885,398 (GRCm39) |
Q644L |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,768,340 (GRCm39) |
S393P |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| S100a11 |
A |
C |
3: 93,431,509 (GRCm39) |
|
probably null |
Het |
| Septin4 |
T |
C |
11: 87,472,022 (GRCm39) |
S11P |
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,862,350 (GRCm39) |
S322G |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,248,762 (GRCm39) |
C385S |
probably damaging |
Het |
| Shank2 |
A |
T |
7: 143,746,204 (GRCm39) |
I193F |
possibly damaging |
Het |
| Slc4a11 |
G |
T |
2: 130,528,221 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tbcd |
C |
A |
11: 121,485,100 (GRCm39) |
Q761K |
probably benign |
Het |
| Tmed6 |
C |
T |
8: 107,792,198 (GRCm39) |
V16M |
probably damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,701 (GRCm39) |
T18A |
probably benign |
Het |
| Tsc1 |
T |
A |
2: 28,568,955 (GRCm39) |
|
probably benign |
Het |
| Ube2m |
T |
C |
7: 12,769,657 (GRCm39) |
N49D |
probably damaging |
Het |
| Ubqlnl |
T |
C |
7: 103,799,254 (GRCm39) |
D81G |
probably damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,332 (GRCm39) |
V302A |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,525,075 (GRCm39) |
R24S |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,130,538 (GRCm39) |
S236I |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,441,544 (GRCm39) |
N560K |
probably benign |
Het |
| Yipf3 |
A |
G |
17: 46,562,503 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp790 |
T |
C |
7: 29,524,300 (GRCm39) |
W19R |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,505,303 (GRCm39) |
C388R |
probably benign |
Het |
| Zpr1 |
T |
A |
9: 46,184,634 (GRCm39) |
I47N |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTTAGCCAAGGGCCAAATAG -3'
(R):5'- TGCTGGACGACCCATTTGAGAATC -3'
Sequencing Primer
(F):5'- GGGCCAAATAGCAACTGTCTTC -3'
(R):5'- ttgattcccagcacccac -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation