Incidental Mutation 'R2034:Pik3r5'
ID |
224355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r5
|
Ensembl Gene |
ENSMUSG00000020901 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
Synonyms |
p101, Foap2 |
MMRRC Submission |
040041-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R2034 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68384403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 598
(N598K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
AlphaFold |
Q5SW28 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021283
AA Change: N598K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021283 Gene: ENSMUSG00000020901 AA Change: N598K
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 |
0.5884 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (71/71) |
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 |
2810408A11Rik |
T |
C |
11: 69,791,385 (GRCm39) |
I65V |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,242,628 (GRCm39) |
N1497S |
possibly damaging |
Het |
Afmid |
C |
A |
11: 117,726,061 (GRCm39) |
N184K |
probably benign |
Het |
Ampd2 |
A |
T |
3: 107,984,679 (GRCm39) |
I459N |
possibly damaging |
Het |
Anapc1 |
T |
C |
2: 128,490,378 (GRCm39) |
D1018G |
possibly damaging |
Het |
Ano9 |
T |
A |
7: 140,688,048 (GRCm39) |
I223F |
probably damaging |
Het |
B3gnt6 |
A |
G |
7: 97,843,225 (GRCm39) |
L245P |
possibly damaging |
Het |
Bag6 |
G |
A |
17: 35,363,668 (GRCm39) |
R784Q |
probably damaging |
Het |
Brca1 |
C |
G |
11: 101,380,675 (GRCm39) |
S1786T |
probably benign |
Het |
Btbd3 |
T |
G |
2: 138,120,903 (GRCm39) |
S26A |
probably benign |
Het |
Cacna1d |
C |
A |
14: 29,811,820 (GRCm39) |
V1277L |
probably damaging |
Het |
Casp12 |
C |
T |
9: 5,346,491 (GRCm39) |
T6I |
probably damaging |
Het |
Col7a1 |
T |
C |
9: 108,792,075 (GRCm39) |
V1262A |
unknown |
Het |
Crh |
C |
A |
3: 19,748,262 (GRCm39) |
G127C |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,770,882 (GRCm39) |
L64* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Ddc |
T |
A |
11: 11,830,456 (GRCm39) |
I63L |
probably benign |
Het |
Eif3a |
C |
T |
19: 60,750,568 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
Gm5420 |
A |
G |
10: 21,567,512 (GRCm39) |
|
noncoding transcript |
Het |
Grb14 |
A |
G |
2: 64,753,873 (GRCm39) |
|
probably benign |
Het |
Gsap |
A |
T |
5: 21,475,593 (GRCm39) |
I545F |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,803,899 (GRCm39) |
|
probably null |
Het |
Helz2 |
G |
A |
2: 180,874,371 (GRCm39) |
P2041L |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,349,254 (GRCm39) |
A2038T |
probably benign |
Het |
Il10 |
C |
A |
1: 130,951,922 (GRCm39) |
Q152K |
probably benign |
Het |
Klrg1 |
A |
G |
6: 122,256,596 (GRCm39) |
|
probably null |
Het |
Lrig2 |
T |
C |
3: 104,401,408 (GRCm39) |
T160A |
probably benign |
Het |
Mmd2 |
A |
T |
5: 142,560,939 (GRCm39) |
|
probably null |
Het |
Mmp2 |
C |
T |
8: 93,563,540 (GRCm39) |
S338F |
probably damaging |
Het |
Nalcn |
T |
G |
14: 123,521,015 (GRCm39) |
D1630A |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,235,207 (GRCm39) |
S909G |
probably benign |
Het |
Neb |
A |
T |
2: 52,170,623 (GRCm39) |
M1683K |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,435,350 (GRCm39) |
I637V |
possibly damaging |
Het |
Npw |
G |
A |
17: 24,877,242 (GRCm39) |
S53F |
probably damaging |
Het |
Nrbf2 |
A |
T |
10: 67,111,343 (GRCm39) |
|
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,200,097 (GRCm39) |
|
probably benign |
Het |
Or4k15c |
T |
C |
14: 50,321,440 (GRCm39) |
M233V |
probably benign |
Het |
Or5b21 |
T |
A |
19: 12,839,151 (GRCm39) |
M4K |
possibly damaging |
Het |
Parp4 |
A |
T |
14: 56,871,720 (GRCm39) |
I1133F |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,546 (GRCm39) |
V292A |
probably benign |
Het |
Pcnx2 |
A |
G |
8: 126,545,406 (GRCm39) |
|
probably null |
Het |
Phf2 |
A |
G |
13: 48,971,206 (GRCm39) |
S489P |
unknown |
Het |
Pikfyve |
A |
T |
1: 65,261,516 (GRCm39) |
E432D |
probably damaging |
Het |
Pink1 |
T |
C |
4: 138,045,343 (GRCm39) |
I274V |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,270,893 (GRCm39) |
T3220I |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,462,902 (GRCm39) |
I890V |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,015,124 (GRCm39) |
V492A |
possibly damaging |
Het |
Prp2 |
G |
T |
6: 132,572,947 (GRCm39) |
|
probably null |
Het |
Rabl6 |
T |
C |
2: 25,475,444 (GRCm39) |
E543G |
possibly damaging |
Het |
Rgp1 |
T |
A |
4: 43,581,605 (GRCm39) |
|
probably null |
Het |
Rps6kb2 |
T |
C |
19: 4,211,106 (GRCm39) |
T140A |
probably damaging |
Het |
S100a11 |
T |
C |
3: 93,433,429 (GRCm39) |
I91T |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,774,569 (GRCm39) |
L230P |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,120,737 (GRCm39) |
D370G |
probably damaging |
Het |
Sim2 |
A |
C |
16: 93,886,801 (GRCm39) |
I43L |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc14a2 |
A |
G |
18: 78,226,798 (GRCm39) |
L419P |
probably damaging |
Het |
Srgap1 |
C |
T |
10: 121,628,651 (GRCm39) |
E817K |
probably damaging |
Het |
Stag3 |
A |
G |
5: 138,296,263 (GRCm39) |
E442G |
possibly damaging |
Het |
Sulf1 |
A |
G |
1: 12,890,645 (GRCm39) |
N361S |
probably damaging |
Het |
Tmco6 |
A |
G |
18: 36,870,909 (GRCm39) |
|
probably null |
Het |
Tmem104 |
T |
A |
11: 115,134,373 (GRCm39) |
I303N |
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,026,352 (GRCm39) |
D86Y |
probably damaging |
Het |
Tut4 |
C |
T |
4: 108,369,392 (GRCm39) |
R651W |
probably damaging |
Het |
Vmn1r120 |
T |
G |
7: 20,786,883 (GRCm39) |
E276A |
possibly damaging |
Het |
Vmn1r64 |
A |
G |
7: 5,886,988 (GRCm39) |
M185T |
probably benign |
Het |
Vmn2r85 |
A |
T |
10: 130,262,242 (GRCm39) |
|
probably benign |
Het |
Vwa3a |
A |
T |
7: 120,381,868 (GRCm39) |
K568* |
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 |
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'- CTGCCACATGACAAAGATGG -3'
(R):5'- TGGGCTCAGACTTCATCTTGC -3'
Sequencing Primer
(F):5'- TGCCACATGACAAAGATGGAATAC -3'
(R):5'- AGACCTGGCCCTCCATAGATTTC -3'
|
Posted On |
2014-08-25 |