Incidental Mutation 'W0251:Pik3r6'
| ID |
166610 |
| Institutional Source |
Beutler Lab
|
| 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 # |
W0251 (G3R)
of strain
daniel_gray
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68393845-68443524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68424697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 434
(Y434C)
|
| 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: Y434C
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: Y434C
| 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: Y434C
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: Y434C
| 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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.3%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1b |
T |
A |
9: 89,081,636 (GRCm39) |
M75K |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,980,904 (GRCm39) |
R1575H |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,183,862 (GRCm39) |
M2507V |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,959,154 (GRCm39) |
D206G |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,155,501 (GRCm39) |
I705F |
possibly damaging |
Het |
| Entpd1 |
A |
T |
19: 40,714,697 (GRCm39) |
I269F |
probably damaging |
Het |
| Gm4559 |
G |
C |
7: 141,827,535 (GRCm39) |
A189G |
unknown |
Het |
| Ipo5 |
T |
A |
14: 121,176,197 (GRCm39) |
M648K |
probably benign |
Het |
| Kdelr1 |
A |
G |
7: 45,531,045 (GRCm39) |
Y96C |
probably damaging |
Het |
| Mmp17 |
C |
T |
5: 129,672,591 (GRCm39) |
A181V |
probably benign |
Het |
| Muc20 |
T |
C |
16: 32,614,223 (GRCm39) |
I385V |
possibly damaging |
Het |
| Or13c7 |
C |
T |
4: 43,855,058 (GRCm39) |
L250F |
probably benign |
Het |
| Pura |
T |
C |
18: 36,420,843 (GRCm39) |
V210A |
probably benign |
Het |
| Spic |
C |
T |
10: 88,515,766 (GRCm39) |
D19N |
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 |
|
|
IGL01116:Pik3r6
|
APN |
11 |
68,422,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGATTTAGGCTAGACCGGGAC -3'
(R):5'- TGGGCACTGGGGATACTCTACAATG -3'
Sequencing Primer
(F):5'- TGTCCACCGACAGTGGAATTG -3'
(R):5'- GGGGATACTCTACAATGTCCTTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation