Incidental Mutation 'IGL02799:Pik3r5'
| ID |
392290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r5
|
| Ensembl Gene |
ENSMUSG00000020901 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p101, Foap2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL02799 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68322951-68388675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68386773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 801
(I801F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021283]
|
| AlphaFold |
Q5SW28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021283
AA Change: I801F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: I801F
| 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 |
0.6418 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
99% (67/68) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
G |
6: 86,083,234 (GRCm39) |
N444S |
possibly damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,739,813 (GRCm39) |
Y823* |
probably null |
Het |
| Atp2c1 |
A |
C |
9: 105,290,242 (GRCm39) |
|
probably benign |
Het |
| Capns1 |
A |
T |
7: 29,891,644 (GRCm39) |
D133E |
probably benign |
Het |
| Cast |
A |
G |
13: 74,884,871 (GRCm39) |
V361A |
probably damaging |
Het |
| Cd69 |
G |
A |
6: 129,245,223 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,321,378 (GRCm39) |
D478V |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,849 (GRCm39) |
E661G |
probably damaging |
Het |
| Chrna1 |
A |
G |
2: 73,404,985 (GRCm39) |
|
probably benign |
Het |
| Clec5a |
C |
A |
6: 40,554,983 (GRCm39) |
V138F |
probably damaging |
Het |
| Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,735,139 (GRCm39) |
S696T |
probably benign |
Het |
| Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
C |
T |
10: 128,642,725 (GRCm39) |
P216S |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,218,930 (GRCm39) |
I1790T |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,705,818 (GRCm39) |
H789Q |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,192,007 (GRCm39) |
L188Q |
probably damaging |
Het |
| Faap100 |
A |
G |
11: 120,261,561 (GRCm39) |
L823P |
probably damaging |
Het |
| Fdxacb1 |
T |
A |
9: 50,683,896 (GRCm39) |
S620T |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Gars1 |
C |
A |
6: 55,040,084 (GRCm39) |
T337K |
probably damaging |
Het |
| Ggta1 |
A |
T |
2: 35,312,211 (GRCm39) |
F56I |
probably damaging |
Het |
| Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,544,482 (GRCm39) |
I343F |
probably damaging |
Het |
| Gpr12 |
T |
A |
5: 146,520,629 (GRCm39) |
I98F |
possibly damaging |
Het |
| Hk2 |
A |
G |
6: 82,737,219 (GRCm39) |
L3P |
probably damaging |
Het |
| Imp4 |
C |
A |
1: 34,479,258 (GRCm39) |
|
probably benign |
Het |
| Insrr |
G |
A |
3: 87,720,888 (GRCm39) |
V1049M |
probably damaging |
Het |
| Klhl24 |
T |
C |
16: 19,933,331 (GRCm39) |
V314A |
probably damaging |
Het |
| Krt32 |
A |
T |
11: 99,978,733 (GRCm39) |
V107D |
possibly damaging |
Het |
| Krtap5-1 |
G |
A |
7: 141,850,242 (GRCm39) |
Q189* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,553,178 (GRCm39) |
E1360G |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,157,083 (GRCm39) |
L163F |
possibly damaging |
Het |
| Mroh1 |
T |
G |
15: 76,276,661 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
G |
11: 67,192,418 (GRCm39) |
|
probably benign |
Het |
| Ndufab1 |
A |
T |
7: 121,692,949 (GRCm39) |
|
probably benign |
Het |
| Nek3 |
A |
G |
8: 22,648,735 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
A |
T |
14: 16,260,636 (GRCm38) |
I107L |
probably benign |
Het |
| Nkain4 |
A |
T |
2: 180,577,728 (GRCm39) |
|
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,022,132 (GRCm39) |
|
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,518,801 (GRCm39) |
I303T |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,830 (GRCm39) |
M256L |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,300 (GRCm39) |
H68L |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,314 (GRCm39) |
Y64N |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Pctp |
C |
A |
11: 89,881,913 (GRCm39) |
W81C |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,299,942 (GRCm39) |
N193K |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,788 (GRCm39) |
D670E |
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,530,628 (GRCm39) |
K201E |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,316,086 (GRCm39) |
F2269L |
probably damaging |
Het |
| Rint1 |
C |
A |
5: 24,024,478 (GRCm39) |
A760D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,680,848 (GRCm39) |
P3166S |
probably damaging |
Het |
| Snap29 |
A |
G |
16: 17,240,367 (GRCm39) |
N158D |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
G |
T |
11: 116,657,473 (GRCm39) |
|
probably benign |
Het |
| Strc |
G |
A |
2: 121,209,717 (GRCm39) |
T202I |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,385,426 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,309,059 (GRCm39) |
M650K |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,105,487 (GRCm39) |
|
probably benign |
Het |
| Tcfl5 |
A |
T |
2: 180,280,419 (GRCm39) |
I328N |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,164,235 (GRCm39) |
Y337H |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,204 (GRCm39) |
K233E |
possibly damaging |
Het |
| Tnk2 |
T |
C |
16: 32,484,699 (GRCm39) |
|
probably benign |
Het |
| Trbv13-2 |
A |
G |
6: 41,098,471 (GRCm39) |
|
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,725 (GRCm39) |
Y875H |
probably benign |
Het |
| Usp6nl |
T |
A |
2: 6,432,360 (GRCm39) |
|
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,437,396 (GRCm39) |
S363P |
possibly damaging |
Het |
| Vnn3 |
T |
C |
10: 23,727,869 (GRCm39) |
I93T |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,091,258 (GRCm39) |
D1108G |
probably damaging |
Het |
| Zbtb17 |
G |
A |
4: 141,190,691 (GRCm39) |
G170S |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,320,084 (GRCm39) |
E1087G |
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 |
|
|
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 |
|
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'- ATCCCTCGAGACTCGGTAAG -3'
(R):5'- TTCACACCTATAGAACAGGGTG -3'
Sequencing Primer
(F):5'- ACAGGGCCTGGCATAGTTCTC -3'
(R):5'- GATGTAAGAAGGTGGCTCTGC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation