Incidental Mutation 'R5128:Pip4k2b'
ID |
394873 |
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 |
042716-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R5128 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97605983-97635530 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97609702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 412
(S412P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018691]
|
AlphaFold |
Q80XI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018691
AA Change: S412P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000018691 Gene: ENSMUSG00000018547 AA Change: S412P
Domain | Start | End | E-Value | Type |
PIPKc
|
67 |
416 |
4.49e-156 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144012
|
Meta Mutation Damage Score |
0.1930 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (48/48) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
Chrna9 |
A |
G |
5: 66,128,565 (GRCm39) |
S258G |
probably benign |
Het |
Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
Dqx1 |
T |
C |
6: 83,037,548 (GRCm39) |
L374P |
probably damaging |
Het |
Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,567,468 (GRCm39) |
|
probably benign |
Het |
Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,248 (GRCm39) |
V188E |
probably damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,647 (GRCm39) |
D266E |
probably damaging |
Het |
Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
Ttc16 |
T |
A |
2: 32,653,009 (GRCm39) |
I550F |
probably benign |
Het |
Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
Zfp597 |
G |
A |
16: 3,689,988 (GRCm39) |
|
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 |
R1252:Pip4k2b
|
UTSW |
11 |
97,635,420 (GRCm39) |
missense |
probably benign |
0.45 |
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 |
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'- TCTTCCTTCAGGTCACAGGCTG -3'
(R):5'- GTTGAGAACCAGAACCAGTAGTC -3'
Sequencing Primer
(F):5'- GGCTGCAGTCCCTTAACTAAAG -3'
(R):5'- AAGTGGTTTTTGTTGTTGTTGTTG -3'
|
Posted On |
2016-06-21 |