Incidental Mutation 'R8515:Pik3r6'
| ID |
656096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r6
|
| Ensembl Gene |
ENSMUSG00000046207 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p87PIKAP, p84 Pikap |
| MMRRC Submission |
067847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68393845-68443524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68430783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 528
(Y528C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060441]
[ENSMUST00000102613]
|
| AlphaFold |
Q3U6Q4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060441
AA Change: Y528C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: Y528C
| 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 damaging
Transcript: ENSMUST00000102613
AA Change: Y524C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: Y524C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
G |
6: 86,902,112 (GRCm39) |
M94V |
possibly damaging |
Het |
| Acss3 |
A |
G |
10: 106,784,524 (GRCm39) |
I566T |
possibly damaging |
Het |
| Adcy3 |
T |
C |
12: 4,262,187 (GRCm39) |
V1080A |
probably damaging |
Het |
| Aldh1b1 |
C |
T |
4: 45,803,818 (GRCm39) |
T452I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,946,064 (GRCm39) |
S2392T |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,320,382 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 122,980,982 (GRCm39) |
Y72N |
probably benign |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
| Ctbs |
T |
A |
3: 146,164,568 (GRCm39) |
Y240* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,258,113 (GRCm39) |
D169G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,939,533 (GRCm39) |
V3196I |
probably damaging |
Het |
| Fam110b |
T |
C |
4: 5,799,380 (GRCm39) |
V266A |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,791,015 (GRCm39) |
S32P |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,043 (GRCm39) |
H705L |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,720,170 (GRCm39) |
Y702* |
probably null |
Het |
| Hao2 |
A |
T |
3: 98,790,963 (GRCm39) |
N70K |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 84,001,478 (GRCm39) |
I888T |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,151,565 (GRCm39) |
N935K |
probably benign |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,427 (GRCm39) |
T76M |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,474,718 (GRCm39) |
H134L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,544,688 (GRCm39) |
Q344K |
probably null |
Het |
| Man2a2 |
A |
T |
7: 80,018,038 (GRCm39) |
F211I |
possibly damaging |
Het |
| Mmp19 |
T |
C |
10: 128,631,471 (GRCm39) |
I189T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,629 (GRCm39) |
G1710S |
unknown |
Het |
| Myo15b |
G |
A |
11: 115,749,610 (GRCm39) |
G127S |
|
Het |
| Naca |
T |
C |
10: 127,880,112 (GRCm39) |
S1715P |
possibly damaging |
Het |
| Ndufs4 |
T |
C |
13: 114,425,339 (GRCm39) |
N163S |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,986 (GRCm39) |
R303* |
probably null |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,707 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,005,136 (GRCm39) |
Q188K |
probably benign |
Het |
| Pak6 |
G |
T |
2: 118,520,478 (GRCm39) |
R156S |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,998 (GRCm39) |
K723N |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,009,490 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,581,844 (GRCm39) |
N57I |
probably benign |
Het |
| Preb |
A |
G |
5: 31,116,722 (GRCm39) |
L57P |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,482,232 (GRCm39) |
D425G |
probably damaging |
Het |
| Rab35 |
G |
A |
5: 115,781,467 (GRCm39) |
V90I |
probably damaging |
Het |
| Rab3gap2 |
G |
C |
1: 184,995,017 (GRCm39) |
S852T |
probably benign |
Het |
| Rcn1 |
C |
T |
2: 105,219,464 (GRCm39) |
R243Q |
probably null |
Het |
| Rom1 |
A |
G |
19: 8,906,465 (GRCm39) |
S25P |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,775 (GRCm39) |
Y286* |
probably null |
Het |
| Sis |
T |
A |
3: 72,836,742 (GRCm39) |
I837L |
probably benign |
Het |
| Ski |
T |
C |
4: 155,245,083 (GRCm39) |
S388G |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,867,921 (GRCm39) |
F16S |
probably benign |
Het |
| Slc22a21 |
T |
G |
11: 53,846,904 (GRCm39) |
D323A |
possibly damaging |
Het |
| Slc40a1 |
G |
A |
1: 45,951,467 (GRCm39) |
T230I |
probably damaging |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,124,436 (GRCm39) |
D2858V |
probably benign |
Het |
| Spdl1 |
G |
A |
11: 34,704,252 (GRCm39) |
T527I |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,658,815 (GRCm39) |
L1240Q |
probably benign |
Het |
| Tef |
T |
A |
15: 81,687,037 (GRCm39) |
V18D |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,216,280 (GRCm39) |
D155G |
probably damaging |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,037 (GRCm39) |
I26V |
probably benign |
Het |
| Wac |
A |
G |
18: 7,871,606 (GRCm39) |
M46V |
probably benign |
Het |
| Wbp1 |
C |
T |
6: 83,096,866 (GRCm39) |
G146D |
probably damaging |
Het |
| Zfand2a |
A |
C |
5: 139,459,546 (GRCm39) |
S147A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,464,534 (GRCm39) |
Y1589F |
probably benign |
Het |
| Zfp345 |
G |
C |
2: 150,314,348 (GRCm39) |
D396E |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGCACGTTGAAGGATTG -3'
(R):5'- ATGAACTGGTTTGCCCAAAC -3'
Sequencing Primer
(F):5'- GGATTGGCCAGACTTGATCATCAC -3'
(R):5'- CTACACACACGAAGCTGTCAAGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation