Incidental Mutation 'IGL01116:Pik3r6'
ID |
52324 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3r6
|
Ensembl Gene |
ENSMUSG00000046207 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
Synonyms |
p87PIKAP, p84 Pikap |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL01116
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
68393845-68443524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68422276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 225
(Y225C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060441]
[ENSMUST00000102613]
|
AlphaFold |
Q3U6Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060441
AA Change: Y225C
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000052522 Gene: ENSMUSG00000046207 AA Change: Y225C
Domain | Start | End | E-Value | Type |
Pfam:PI3K_1B_p101
|
7 |
306 |
7.4e-28 |
PFAM |
low complexity region
|
310 |
324 |
N/A |
INTRINSIC |
Pfam:PI3K_1B_p101
|
394 |
755 |
1.2e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102613
AA Change: Y225C
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099673 Gene: ENSMUSG00000046207 AA Change: Y225C
Domain | Start | End | E-Value | Type |
Pfam:PI3K_1B_p101
|
3 |
335 |
1.8e-111 |
PFAM |
Pfam:PI3K_1B_p101
|
332 |
752 |
1.6e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126069
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153671
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 11. The protein binds to both the catalytic subunit and to G beta-gamma, and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit small reductions in lymphocyte and granulocyte and a slight increase in neutrophils. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,849,911 (GRCm39) |
M951L |
probably benign |
Het |
Als2 |
T |
C |
1: 59,225,163 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
T |
C |
18: 39,244,856 (GRCm39) |
V167A |
probably damaging |
Het |
Bbs1 |
A |
G |
19: 4,952,867 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,949,806 (GRCm39) |
|
probably benign |
Het |
Cenpl |
G |
T |
1: 160,910,857 (GRCm39) |
S268I |
possibly damaging |
Het |
Coq8b |
T |
C |
7: 26,939,282 (GRCm39) |
V144A |
possibly damaging |
Het |
Exo1 |
T |
A |
1: 175,728,963 (GRCm39) |
C10S |
possibly damaging |
Het |
Fam193b |
A |
T |
13: 55,691,266 (GRCm39) |
S203T |
probably damaging |
Het |
Ggact |
T |
C |
14: 123,129,167 (GRCm39) |
N16S |
probably damaging |
Het |
Gm3940 |
A |
T |
1: 52,129,882 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
Golm1 |
T |
C |
13: 59,797,470 (GRCm39) |
K125R |
probably damaging |
Het |
Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,127,801 (GRCm39) |
N337D |
probably damaging |
Het |
Gripap1 |
G |
A |
X: 7,678,705 (GRCm39) |
G464D |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,455,404 (GRCm39) |
D96G |
possibly damaging |
Het |
Hsf1 |
T |
C |
15: 76,382,403 (GRCm39) |
V258A |
probably benign |
Het |
Ighv7-4 |
A |
G |
12: 114,186,653 (GRCm39) |
S40P |
probably damaging |
Het |
Igkv4-50 |
G |
A |
6: 69,677,921 (GRCm39) |
S61L |
probably benign |
Het |
Igkv4-62 |
C |
T |
6: 69,377,035 (GRCm39) |
G38E |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,757,437 (GRCm39) |
D358G |
probably damaging |
Het |
Madd |
A |
G |
2: 90,984,888 (GRCm39) |
|
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,974,439 (GRCm39) |
S580G |
probably damaging |
Het |
Myef2 |
A |
G |
2: 124,940,402 (GRCm39) |
M383T |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,119,730 (GRCm39) |
L930P |
probably damaging |
Het |
Ndufaf3 |
C |
T |
9: 108,444,068 (GRCm39) |
R20Q |
probably benign |
Het |
Npr2 |
T |
C |
4: 43,640,248 (GRCm39) |
S328P |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,144 (GRCm39) |
C97S |
probably damaging |
Het |
Or4k15b |
T |
A |
14: 50,272,507 (GRCm39) |
M118L |
probably benign |
Het |
Pdpr |
T |
C |
8: 111,839,342 (GRCm39) |
I155T |
possibly damaging |
Het |
Phf11b |
A |
T |
14: 59,560,631 (GRCm39) |
I216K |
probably benign |
Het |
Phkg1 |
T |
C |
5: 129,893,813 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
T |
17: 84,914,356 (GRCm39) |
D1253V |
possibly damaging |
Het |
Plppr3 |
T |
C |
10: 79,702,757 (GRCm39) |
T155A |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,166,192 (GRCm39) |
F732S |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,799,627 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
T |
G |
15: 79,135,432 (GRCm39) |
S459R |
probably damaging |
Het |
Slc25a12 |
A |
T |
2: 71,123,696 (GRCm39) |
|
probably benign |
Het |
Slc38a2 |
T |
C |
15: 96,591,066 (GRCm39) |
|
probably benign |
Het |
Slit1 |
C |
A |
19: 41,594,824 (GRCm39) |
W1182L |
possibly damaging |
Het |
Snx2 |
C |
T |
18: 53,327,495 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
T |
17: 80,752,929 (GRCm39) |
V335D |
probably damaging |
Het |
St18 |
A |
G |
1: 6,872,856 (GRCm39) |
D197G |
probably damaging |
Het |
Ston2 |
G |
T |
12: 91,615,522 (GRCm39) |
N295K |
possibly damaging |
Het |
Stpg3 |
A |
G |
2: 25,103,191 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,799,654 (GRCm39) |
I675V |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,488,294 (GRCm39) |
L389Q |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,699,320 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,934 (GRCm39) |
D3012E |
probably damaging |
Het |
|
Other mutations in Pik3r6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00518:Pik3r6
|
APN |
11 |
68,425,077 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00913:Pik3r6
|
APN |
11 |
68,442,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00984:Pik3r6
|
APN |
11 |
68,424,445 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01110:Pik3r6
|
APN |
11 |
68,419,652 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02839:Pik3r6
|
APN |
11 |
68,417,238 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Pik3r6
|
UTSW |
11 |
68,417,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Pik3r6
|
UTSW |
11 |
68,435,576 (GRCm39) |
missense |
probably benign |
0.02 |
R0062:Pik3r6
|
UTSW |
11 |
68,419,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Pik3r6
|
UTSW |
11 |
68,419,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R0266:Pik3r6
|
UTSW |
11 |
68,417,234 (GRCm39) |
nonsense |
probably null |
|
R0454:Pik3r6
|
UTSW |
11 |
68,419,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0906:Pik3r6
|
UTSW |
11 |
68,426,927 (GRCm39) |
splice site |
probably benign |
|
R1119:Pik3r6
|
UTSW |
11 |
68,436,698 (GRCm39) |
missense |
probably benign |
0.05 |
R1440:Pik3r6
|
UTSW |
11 |
68,422,271 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1664:Pik3r6
|
UTSW |
11 |
68,426,932 (GRCm39) |
missense |
probably benign |
|
R1831:Pik3r6
|
UTSW |
11 |
68,434,860 (GRCm39) |
missense |
probably benign |
0.26 |
R2144:Pik3r6
|
UTSW |
11 |
68,434,437 (GRCm39) |
nonsense |
probably null |
|
R4013:Pik3r6
|
UTSW |
11 |
68,424,347 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4754:Pik3r6
|
UTSW |
11 |
68,435,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Pik3r6
|
UTSW |
11 |
68,420,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Pik3r6
|
UTSW |
11 |
68,434,879 (GRCm39) |
splice site |
probably benign |
|
R4974:Pik3r6
|
UTSW |
11 |
68,430,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5033:Pik3r6
|
UTSW |
11 |
68,424,294 (GRCm39) |
nonsense |
probably null |
|
R5787:Pik3r6
|
UTSW |
11 |
68,430,753 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5918:Pik3r6
|
UTSW |
11 |
68,416,497 (GRCm39) |
nonsense |
probably null |
|
R6164:Pik3r6
|
UTSW |
11 |
68,442,799 (GRCm39) |
missense |
probably benign |
0.00 |
R6192:Pik3r6
|
UTSW |
11 |
68,434,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R6440:Pik3r6
|
UTSW |
11 |
68,424,522 (GRCm39) |
missense |
probably benign |
0.09 |
R7699:Pik3r6
|
UTSW |
11 |
68,419,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R7700:Pik3r6
|
UTSW |
11 |
68,419,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R7922:Pik3r6
|
UTSW |
11 |
68,424,701 (GRCm39) |
missense |
probably benign |
0.00 |
R7964:Pik3r6
|
UTSW |
11 |
68,424,565 (GRCm39) |
missense |
probably benign |
0.01 |
R8473:Pik3r6
|
UTSW |
11 |
68,417,207 (GRCm39) |
missense |
probably benign |
0.02 |
R8515:Pik3r6
|
UTSW |
11 |
68,430,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8883:Pik3r6
|
UTSW |
11 |
68,424,468 (GRCm39) |
missense |
probably benign |
|
R9545:Pik3r6
|
UTSW |
11 |
68,422,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R9623:Pik3r6
|
UTSW |
11 |
68,442,159 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9762:Pik3r6
|
UTSW |
11 |
68,424,358 (GRCm39) |
nonsense |
probably null |
|
W0251:Pik3r6
|
UTSW |
11 |
68,424,697 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Pik3r6
|
UTSW |
11 |
68,416,428 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Pik3r6
|
UTSW |
11 |
68,435,591 (GRCm39) |
missense |
probably benign |
0.12 |
Z1176:Pik3r6
|
UTSW |
11 |
68,411,026 (GRCm39) |
start gained |
probably benign |
|
Z1177:Pik3r6
|
UTSW |
11 |
68,442,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-06-21 |