Incidental Mutation 'R8473:Pik3r6'
| ID |
657129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r6
|
| Ensembl Gene |
ENSMUSG00000046207 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p87PIKAP, p84 Pikap |
| MMRRC Submission |
067917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68393845-68443524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68417207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 50
(S50G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060441]
[ENSMUST00000102613]
|
| AlphaFold |
Q3U6Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060441
AA Change: S50G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: S50G
| 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: S50G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: S50G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
C |
17: 65,141,513 (GRCm39) |
D30G |
unknown |
Het |
| Acad12 |
T |
C |
5: 121,745,538 (GRCm39) |
D251G |
probably damaging |
Het |
| Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
| Atg13 |
A |
T |
2: 91,518,993 (GRCm39) |
L151M |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,625 (GRCm39) |
F250L |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,940,854 (GRCm39) |
E183G |
possibly damaging |
Het |
| Csf3 |
T |
C |
11: 98,592,928 (GRCm39) |
L97P |
probably damaging |
Het |
| Derl2 |
A |
G |
11: 70,910,035 (GRCm39) |
Y10H |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,234,939 (GRCm39) |
N435D |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,492,526 (GRCm39) |
V691L |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,256,860 (GRCm39) |
S509G |
probably null |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,777,336 (GRCm39) |
G121D |
probably damaging |
Het |
| Gfm1 |
T |
C |
3: 67,361,051 (GRCm39) |
S458P |
possibly damaging |
Het |
| Gm6882 |
A |
T |
7: 21,161,440 (GRCm39) |
Y143N |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,278 (GRCm39) |
M176K |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,099 (GRCm39) |
V623D |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,479,551 (GRCm39) |
P4638T |
possibly damaging |
Het |
| Il27ra |
A |
G |
8: 84,768,735 (GRCm39) |
Y62H |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,285,320 (GRCm39) |
S1097C |
probably benign |
Het |
| Kif19a |
T |
G |
11: 114,678,377 (GRCm39) |
S677A |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,434,266 (GRCm39) |
T792A |
unknown |
Het |
| Or8d4 |
T |
C |
9: 40,038,506 (GRCm39) |
I250M |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,852 (GRCm39) |
V674D |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,357 (GRCm39) |
T474A |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,600,421 (GRCm39) |
|
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,131 (GRCm39) |
Y880C |
probably damaging |
Het |
| Smc5 |
A |
T |
19: 23,221,446 (GRCm39) |
V361D |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,762,840 (GRCm39) |
H480Q |
probably damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,153 (GRCm39) |
E273G |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,451,444 (GRCm39) |
T170A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,064 (GRCm39) |
M232K |
possibly damaging |
Het |
| Wdr20rt |
A |
G |
12: 65,273,380 (GRCm39) |
D180G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTGGGGTCAGCTCTTAC -3'
(R):5'- TGCACACAGATATGCAGAGG -3'
Sequencing Primer
(F):5'- CAGCTCTTACTACAGGGTCAGATG -3'
(R):5'- ATATGTTTCTACCCAGCGATGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation