Incidental Mutation 'R6002:Pi4k2b'
| ID |
478415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4k2b
|
| Ensembl Gene |
ENSMUSG00000029186 |
| Gene Name |
phosphatidylinositol 4-kinase type 2 beta |
| Synonyms |
2610042N09Rik, 4933409G22Rik |
| MMRRC Submission |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R6002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52898916-52926682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52914247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 328
(I328L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031081]
[ENSMUST00000031082]
|
| AlphaFold |
Q8CBQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031081
AA Change: I328L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: I328L
| 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 benign
Transcript: ENSMUST00000031082
AA Change: I305L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: I305L
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
| Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
probably 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 |
|
R0070:Pi4k2b
|
UTSW |
5 |
52,914,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACCAAAAGAAGCCGTGAT -3'
(R):5'- GGCTAGAATCGAGCCCCAAT -3'
Sequencing Primer
(F):5'- TCTGTAACTCCAGTTCCAGGAAG -3'
(R):5'- GCTAGAATCGAGCCCCAATGAATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation