Incidental Mutation 'R0070:Pi4k2b'
ID |
17138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pi4k2b
|
Ensembl Gene |
ENSMUSG00000029186 |
Gene Name |
phosphatidylinositol 4-kinase type 2 beta |
Synonyms |
2610042N09Rik, 4933409G22Rik |
MMRRC Submission |
038361-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R0070 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
52898916-52926682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 52914260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 309
(D309A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031081]
[ENSMUST00000031082]
|
AlphaFold |
Q8CBQ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031081
AA Change: D332A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031081 Gene: ENSMUSG00000029186 AA Change: D332A
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
Pfam:PI3_PI4_kinase
|
117 |
417 |
3.9e-74 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031082
AA Change: D309A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031082 Gene: ENSMUSG00000029186 AA Change: D309A
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
Pfam:PI3_PI4_kinase
|
85 |
401 |
7.4e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145825
|
Meta Mutation Damage Score |
0.9692 |
Coding Region Coverage |
- 1x: 88.0%
- 3x: 83.9%
- 10x: 69.3%
- 20x: 41.9%
|
Validation Efficiency |
88% (67/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
Gm2027 |
T |
A |
12: 44,269,145 (GRCm39) |
|
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
Hykk |
T |
A |
9: 54,829,632 (GRCm39) |
|
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,840,262 (GRCm39) |
D346G |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,220,462 (GRCm39) |
E1669G |
probably damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,780 (GRCm39) |
L101P |
probably damaging |
Het |
Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
Phf20l1 |
T |
G |
15: 66,511,840 (GRCm39) |
W940G |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
Serpinh1 |
A |
T |
7: 98,998,521 (GRCm39) |
S36R |
probably damaging |
Het |
Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
Sin3b |
T |
A |
8: 73,452,210 (GRCm39) |
H105Q |
probably damaging |
Het |
Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
Taok1 |
T |
A |
11: 77,444,543 (GRCm39) |
M511L |
probably benign |
Het |
Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
Tmem147 |
T |
C |
7: 30,427,526 (GRCm39) |
Y97C |
probably damaging |
Het |
Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
Zscan20 |
C |
T |
4: 128,479,675 (GRCm39) |
V939I |
possibly damaging |
Het |
|
Other mutations in Pi4k2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00559:Pi4k2b
|
APN |
5 |
52,908,790 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00850:Pi4k2b
|
APN |
5 |
52,918,292 (GRCm39) |
nonsense |
probably null |
|
IGL01580:Pi4k2b
|
APN |
5 |
52,912,003 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02526:Pi4k2b
|
APN |
5 |
52,925,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02667:Pi4k2b
|
APN |
5 |
52,907,947 (GRCm39) |
splice site |
probably benign |
|
IGL02946:Pi4k2b
|
APN |
5 |
52,910,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03117:Pi4k2b
|
APN |
5 |
52,905,765 (GRCm39) |
missense |
probably benign |
0.44 |
PIT4651001:Pi4k2b
|
UTSW |
5 |
52,905,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0422:Pi4k2b
|
UTSW |
5 |
52,925,096 (GRCm39) |
makesense |
probably null |
|
R1816:Pi4k2b
|
UTSW |
5 |
52,908,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Pi4k2b
|
UTSW |
5 |
52,905,773 (GRCm39) |
missense |
probably benign |
0.30 |
R2058:Pi4k2b
|
UTSW |
5 |
52,908,022 (GRCm39) |
missense |
probably benign |
0.02 |
R4909:Pi4k2b
|
UTSW |
5 |
52,911,971 (GRCm39) |
unclassified |
probably benign |
|
R5335:Pi4k2b
|
UTSW |
5 |
52,899,098 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5661:Pi4k2b
|
UTSW |
5 |
52,900,906 (GRCm39) |
splice site |
probably null |
|
R6002:Pi4k2b
|
UTSW |
5 |
52,914,247 (GRCm39) |
missense |
probably benign |
0.02 |
R7259:Pi4k2b
|
UTSW |
5 |
52,910,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:Pi4k2b
|
UTSW |
5 |
52,914,211 (GRCm39) |
missense |
probably benign |
|
R8725:Pi4k2b
|
UTSW |
5 |
52,908,031 (GRCm39) |
missense |
probably benign |
0.01 |
R8727:Pi4k2b
|
UTSW |
5 |
52,908,031 (GRCm39) |
missense |
probably benign |
0.01 |
R9282:Pi4k2b
|
UTSW |
5 |
52,900,879 (GRCm39) |
missense |
probably benign |
0.21 |
R9562:Pi4k2b
|
UTSW |
5 |
52,908,799 (GRCm39) |
missense |
probably damaging |
0.97 |
R9758:Pi4k2b
|
UTSW |
5 |
52,918,331 (GRCm39) |
missense |
probably benign |
0.22 |
Z1088:Pi4k2b
|
UTSW |
5 |
52,918,273 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Posted On |
2013-01-20 |