Incidental Mutation 'R8883:Pik3r6'
| ID |
677119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r6
|
| Ensembl Gene |
ENSMUSG00000046207 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p87PIKAP, p84 Pikap |
| MMRRC Submission |
068689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68393845-68443524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68424468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 358
(S358P)
|
| 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: S358P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: S358P
| 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: S358P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: S358P
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,283,168 (GRCm39) |
S3197P |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,486,992 (GRCm39) |
S315P |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,246,122 (GRCm39) |
L29Q |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,990,227 (GRCm39) |
P1842S |
probably damaging |
Het |
| Ccnb1ip1 |
G |
C |
14: 51,027,359 (GRCm39) |
P248A |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,766,540 (GRCm39) |
Q262R |
probably benign |
Het |
| Cox10 |
T |
C |
11: 63,884,775 (GRCm39) |
E210G |
probably damaging |
Het |
| Dcaf1 |
T |
G |
9: 106,724,839 (GRCm39) |
|
probably benign |
Het |
| Dgki |
A |
T |
6: 36,993,608 (GRCm39) |
D584E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,121,243 (GRCm39) |
E428G |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,753,922 (GRCm39) |
F807L |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,305,044 (GRCm39) |
V533A |
|
Het |
| Fermt3 |
G |
T |
19: 6,980,600 (GRCm39) |
D322E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,809,524 (GRCm39) |
V1948L |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,442,204 (GRCm39) |
D206G |
probably benign |
Het |
| Gjd3 |
A |
G |
11: 102,691,769 (GRCm39) |
V78A |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Hmces |
G |
A |
6: 87,910,396 (GRCm39) |
A269T |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,814,025 (GRCm39) |
N2434K |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,361,342 (GRCm39) |
S49T |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lap3 |
C |
A |
5: 45,669,272 (GRCm39) |
H474N |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,073,412 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,747 (GRCm39) |
V62A |
probably benign |
Het |
| Map3k14 |
T |
G |
11: 103,130,278 (GRCm39) |
Q213P |
probably benign |
Het |
| Mboat2 |
T |
G |
12: 25,009,033 (GRCm39) |
H478Q |
|
Het |
| Mepce |
C |
A |
5: 137,784,779 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,355,636 (GRCm39) |
R233H |
|
Het |
| Muc2 |
A |
G |
7: 141,287,469 (GRCm39) |
H216R |
probably damaging |
Het |
| Ntmt1 |
G |
A |
2: 30,712,466 (GRCm39) |
A170T |
probably benign |
Het |
| Or2ag15 |
A |
G |
7: 106,340,274 (GRCm39) |
I289T |
possibly damaging |
Het |
| Or2d3 |
A |
C |
7: 106,490,536 (GRCm39) |
M260R |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,583,838 (GRCm39) |
L166F |
probably damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,083 (GRCm39) |
H229R |
probably benign |
Het |
| Pebp4 |
G |
T |
14: 70,085,098 (GRCm39) |
C52F |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,085 (GRCm39) |
Y274N |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,767,368 (GRCm39) |
I252T |
probably benign |
Het |
| Prss3b |
G |
T |
6: 41,009,305 (GRCm39) |
Y176* |
probably null |
Het |
| Racgap1 |
A |
G |
15: 99,526,540 (GRCm39) |
V341A |
probably benign |
Het |
| Rprd1a |
T |
C |
18: 24,640,260 (GRCm39) |
D172G |
possibly damaging |
Het |
| Spg11 |
T |
C |
2: 121,943,561 (GRCm39) |
D197G |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,474 (GRCm39) |
D339G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,021,145 (GRCm39) |
K574N |
possibly damaging |
Het |
| Srrd |
A |
T |
5: 112,487,790 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,080,257 (GRCm39) |
H547L |
unknown |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tap1 |
T |
C |
17: 34,406,867 (GRCm39) |
V5A |
unknown |
Het |
| Tent5c |
C |
A |
3: 100,379,707 (GRCm39) |
A350S |
probably benign |
Het |
| Usp45 |
G |
A |
4: 21,825,006 (GRCm39) |
G586D |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,855,479 (GRCm39) |
A2515S |
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,375,211 (GRCm39) |
|
probably null |
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 |
|
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'- GAACTGGTACTCTTCCTCCG -3'
(R):5'- AGTCTGTAGTAAGCCTGGGC -3'
Sequencing Primer
(F):5'- GGTACTCTTCCTCCGCCCAC -3'
(R):5'- TGTAGTAAGCCTGGGCCAAGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation