Incidental Mutation 'R6243:Pik3r5'
| ID |
505397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| MMRRC Submission |
044365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68382826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 289
(Y289H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021283
AA Change: Y289H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: Y289H
| 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 |
0.4396 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (73/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,450,809 (GRCm39) |
S331P |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,115,000 (GRCm39) |
|
probably null |
Het |
| Ankef1 |
A |
G |
2: 136,379,077 (GRCm39) |
E9G |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,336,530 (GRCm39) |
E788G |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asrgl1 |
A |
T |
19: 9,093,868 (GRCm39) |
I220K |
probably damaging |
Het |
| Atg16l2 |
A |
C |
7: 100,941,536 (GRCm39) |
*404E |
probably null |
Het |
| Atp4a |
T |
C |
7: 30,415,382 (GRCm39) |
F334S |
possibly damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,292,495 (GRCm39) |
E17G |
probably benign |
Het |
| Bcat2 |
T |
C |
7: 45,237,691 (GRCm39) |
V279A |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,916,382 (GRCm39) |
M459R |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,760 (GRCm39) |
Y3098C |
unknown |
Het |
| Btaf1 |
T |
A |
19: 36,958,520 (GRCm39) |
M679K |
probably benign |
Het |
| Cirop |
T |
A |
14: 54,933,216 (GRCm39) |
R322S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,589 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Crhr1 |
G |
A |
11: 104,064,740 (GRCm39) |
C364Y |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,446,288 (GRCm39) |
L648P |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,550,277 (GRCm39) |
Y671H |
probably damaging |
Het |
| Cyp2b13 |
C |
T |
7: 25,761,044 (GRCm39) |
P34S |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,986,131 (GRCm39) |
V233E |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,301,216 (GRCm39) |
H191L |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,781 (GRCm39) |
D817E |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,686,680 (GRCm39) |
Q330R |
possibly damaging |
Het |
| Fads1 |
G |
T |
19: 10,163,091 (GRCm39) |
E123* |
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,921,016 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,938 (GRCm39) |
E270G |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,172 (GRCm39) |
H41L |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,756,096 (GRCm39) |
N985S |
possibly damaging |
Het |
| Gp1ba |
T |
C |
11: 70,530,963 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Igf2bp3 |
A |
T |
6: 49,084,362 (GRCm39) |
N285K |
possibly damaging |
Het |
| Lca5l |
G |
A |
16: 95,980,112 (GRCm39) |
T6I |
possibly damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,604 (GRCm39) |
H354R |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,290,999 (GRCm39) |
V195E |
possibly damaging |
Het |
| Mtfmt |
C |
T |
9: 65,351,182 (GRCm39) |
T243I |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,500,208 (GRCm39) |
I195K |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,380 (GRCm39) |
K300E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,260,105 (GRCm39) |
S628P |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,892,944 (GRCm39) |
A721S |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,385 (GRCm39) |
M1V |
probably null |
Het |
| Or5d47 |
A |
G |
2: 87,804,931 (GRCm39) |
V26A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,726,457 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,065,320 (GRCm39) |
S12G |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,149,954 (GRCm39) |
I717T |
probably damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,846,299 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,510,373 (GRCm39) |
I354V |
probably benign |
Het |
| Prss2 |
T |
C |
6: 41,501,387 (GRCm39) |
V152A |
probably benign |
Het |
| Rab28 |
C |
T |
5: 41,793,223 (GRCm39) |
A141T |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,472,877 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
G |
2: 25,475,415 (GRCm39) |
S553R |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,717,374 (GRCm39) |
F170S |
possibly damaging |
Het |
| Ror2 |
T |
A |
13: 53,267,116 (GRCm39) |
M440L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph4a |
A |
T |
10: 33,785,139 (GRCm39) |
Q350L |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,450,869 (GRCm39) |
F204L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,533,257 (GRCm39) |
|
probably null |
Het |
| Shisa3 |
C |
T |
5: 67,768,486 (GRCm39) |
P129S |
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,534 (GRCm39) |
L111F |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,743,025 (GRCm39) |
R1195W |
probably damaging |
Het |
| Syna |
C |
A |
5: 134,588,968 (GRCm39) |
|
probably benign |
Het |
| Thada |
A |
T |
17: 84,744,030 (GRCm39) |
D759E |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,869,753 (GRCm39) |
Y385C |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,327,601 (GRCm39) |
D1424N |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,090,599 (GRCm39) |
Q1204L |
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,671 (GRCm39) |
N43S |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ugt2a2 |
T |
G |
5: 87,610,818 (GRCm39) |
K339N |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,947,211 (GRCm39) |
T514A |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,774,682 (GRCm39) |
M652K |
possibly damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,083,184 (GRCm39) |
Y550F |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,099,269 (GRCm39) |
P322S |
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 |
|
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 |
|
|
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'- CGTCTACATGGTGCCGTAAAG -3'
(R):5'- CGTTTGCTCCAGGGCTATAG -3'
Sequencing Primer
(F):5'- CAGTAGCTGAGAGTCGGGTATCC -3'
(R):5'- TATAGTGCCCCTCACCCACTAGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation