Incidental Mutation 'R1252:Pip4k2b'
ID |
151808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pip4k2b
|
Ensembl Gene |
ENSMUSG00000018547 |
Gene Name |
phosphatidylinositol-5-phosphate 4-kinase, type II, beta |
Synonyms |
c11, PI5P4Kbeta, Pip5k2b |
MMRRC Submission |
039319-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R1252 (G1)
|
Quality Score |
96 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97605983-97635530 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97635420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 4
(N4S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018685]
[ENSMUST00000018691]
|
AlphaFold |
Q80XI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018685
|
SMART Domains |
Protein: ENSMUSP00000018685 Gene: ENSMUSG00000018541
Domain | Start | End | E-Value | Type |
Cir_N
|
11 |
47 |
8.52e-14 |
SMART |
Pfam:CWC25
|
66 |
157 |
8.2e-24 |
PFAM |
coiled coil region
|
159 |
187 |
N/A |
INTRINSIC |
low complexity region
|
251 |
269 |
N/A |
INTRINSIC |
low complexity region
|
274 |
293 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000018691
AA Change: N4S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000018691 Gene: ENSMUSG00000018547 AA Change: N4S
Domain | Start | End | E-Value | Type |
PIPKc
|
67 |
416 |
4.49e-156 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124356
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152395
|
SMART Domains |
Protein: ENSMUSP00000122738 Gene: ENSMUSG00000018541
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
coiled coil region
|
81 |
117 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184148
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal with less body fat and an increased sensitivity to insulin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
|
Other mutations in Pip4k2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00954:Pip4k2b
|
APN |
11 |
97,635,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01567:Pip4k2b
|
APN |
11 |
97,620,387 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01568:Pip4k2b
|
APN |
11 |
97,620,378 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03004:Pip4k2b
|
APN |
11 |
97,615,300 (GRCm39) |
missense |
probably damaging |
1.00 |
bigun
|
UTSW |
11 |
97,613,762 (GRCm39) |
splice site |
probably benign |
|
yuge
|
UTSW |
11 |
97,613,260 (GRCm39) |
missense |
probably benign |
0.04 |
R0119:Pip4k2b
|
UTSW |
11 |
97,613,762 (GRCm39) |
splice site |
probably benign |
|
R0657:Pip4k2b
|
UTSW |
11 |
97,613,762 (GRCm39) |
splice site |
probably benign |
|
R1223:Pip4k2b
|
UTSW |
11 |
97,609,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R2914:Pip4k2b
|
UTSW |
11 |
97,613,260 (GRCm39) |
missense |
probably benign |
0.04 |
R3702:Pip4k2b
|
UTSW |
11 |
97,620,374 (GRCm39) |
splice site |
probably benign |
|
R4173:Pip4k2b
|
UTSW |
11 |
97,613,201 (GRCm39) |
missense |
probably benign |
0.06 |
R4998:Pip4k2b
|
UTSW |
11 |
97,613,261 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5084:Pip4k2b
|
UTSW |
11 |
97,610,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R5128:Pip4k2b
|
UTSW |
11 |
97,609,702 (GRCm39) |
missense |
probably benign |
0.01 |
R6590:Pip4k2b
|
UTSW |
11 |
97,620,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R6690:Pip4k2b
|
UTSW |
11 |
97,620,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R7104:Pip4k2b
|
UTSW |
11 |
97,623,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7676:Pip4k2b
|
UTSW |
11 |
97,611,188 (GRCm39) |
missense |
probably benign |
0.02 |
R9161:Pip4k2b
|
UTSW |
11 |
97,615,245 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9277:Pip4k2b
|
UTSW |
11 |
97,613,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGGGGAAGCTGGTTACCGTGT -3'
(R):5'- TAGGGAGCCCTTCTTGCCGAGT -3'
Sequencing Primer
(F):5'- GTGGTTCACCCCCCACATC -3'
(R):5'- TACCATTCCGACGGGGAGG -3'
|
Posted On |
2014-01-29 |