Incidental Mutation 'R6440:Pik3r6'
| ID |
518988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r6
|
| Ensembl Gene |
ENSMUSG00000046207 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 5 |
| Synonyms |
p87PIKAP, p84 Pikap |
| MMRRC Submission |
044578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6440 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68393845-68443524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68424522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 376
(W376R)
|
| 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: W376R
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: W376R
| 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: W376R
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: W376R
| 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
|
| Meta Mutation Damage Score |
0.0826 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,101,744 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,942,341 (GRCm39) |
Q684* |
probably null |
Het |
| Ahi1 |
T |
A |
10: 20,835,981 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,133,631 (GRCm39) |
T1070A |
probably damaging |
Het |
| B3gnt9 |
C |
T |
8: 105,980,531 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
G |
T |
6: 122,827,467 (GRCm39) |
A250E |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,771,143 (GRCm39) |
F284L |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,710,566 (GRCm39) |
I90T |
probably benign |
Het |
| Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
| Ces2a |
C |
T |
8: 105,467,954 (GRCm39) |
A528V |
probably benign |
Het |
| Cyp2c70 |
T |
C |
19: 40,145,250 (GRCm39) |
N402S |
possibly damaging |
Het |
| F3 |
A |
G |
3: 121,518,686 (GRCm39) |
E50G |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,335,197 (GRCm39) |
S412T |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,501,115 (GRCm39) |
D1306V |
possibly damaging |
Het |
| Ggt7 |
T |
C |
2: 155,340,731 (GRCm39) |
D424G |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,230,981 (GRCm39) |
N468I |
probably damaging |
Het |
| Htr5a |
T |
A |
5: 28,055,870 (GRCm39) |
V287E |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,637,876 (GRCm39) |
V154A |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,552,655 (GRCm39) |
V4546A |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,147,516 (GRCm39) |
Y121C |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,379,659 (GRCm39) |
Y315* |
probably null |
Het |
| Ntpcr |
T |
A |
8: 126,471,981 (GRCm39) |
S64T |
probably damaging |
Het |
| Or1e1c |
A |
T |
11: 73,266,173 (GRCm39) |
E202D |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,837 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,490 (GRCm39) |
F26S |
probably damaging |
Het |
| Pate9 |
T |
A |
9: 36,453,168 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,674,902 (GRCm39) |
C5R |
probably damaging |
Het |
| Pgap2 |
T |
A |
7: 101,886,594 (GRCm39) |
|
probably null |
Het |
| Plekha2 |
T |
C |
8: 25,578,413 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,234,180 (GRCm39) |
K779E |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,330 (GRCm39) |
V98A |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,713,010 (GRCm39) |
D1287N |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,426,997 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,964,422 (GRCm39) |
M1K |
probably null |
Het |
| Smo |
A |
G |
6: 29,756,813 (GRCm39) |
H437R |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,746,198 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,116,555 (GRCm39) |
R898S |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,718,244 (GRCm39) |
V7A |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,748,569 (GRCm39) |
A427V |
possibly damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,754 (GRCm39) |
G164S |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,040 (GRCm39) |
K153R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTGGTACTCTTCCTCCG -3'
(R):5'- TGTAGTAAGCCTGGGCCAAG -3'
Sequencing Primer
(F):5'- CTCAGTGCTGATCTGGATGCC -3'
(R):5'- AAGCGCCCTAGCATCCTGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation