Incidental Mutation 'R3702:Pip4k2b'
| ID |
258577 |
| 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 |
040695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R3702 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97605983-97635530 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 97620374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018691]
|
| AlphaFold |
Q80XI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018691
|
| SMART Domains |
Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
| Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
| Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
| Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
| Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
| Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
| Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
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 |
|
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'- GGGTTCTTCAGCCTAGACTG -3'
(R):5'- AAGGCTCTGGTGTTGCTCAG -3'
Sequencing Primer
(F):5'- TAGACTGGGCGTGTCAGAC -3'
(R):5'- CAGGCTGAGTTAGGGTGGTTCAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation