Incidental Mutation 'R2410:Pi4k2a'
| ID |
249968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4k2a
|
| Ensembl Gene |
ENSMUSG00000025178 |
| Gene Name |
phosphatidylinositol 4-kinase type 2 alpha |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R2410 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
42078909-42110526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42093316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 219
(E219G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066778]
|
| AlphaFold |
Q2TBE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066778
AA Change: E219G
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: E219G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
98 |
N/A |
INTRINSIC |
|
Pfam:PI3_PI4_kinase
|
133 |
431 |
1.7e-67 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
| Ero1a |
C |
T |
14: 45,542,723 (GRCm39) |
V101I |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,895,111 (GRCm39) |
Y9H |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,453 (GRCm39) |
Y299C |
possibly damaging |
Het |
| Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
| Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
| Mlxip |
T |
A |
5: 123,581,132 (GRCm39) |
W260R |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
| Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
| Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,491,278 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
| Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
probably benign |
Het |
|
| Other mutations in Pi4k2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01710:Pi4k2a
|
APN |
19 |
42,093,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Pi4k2a
|
APN |
19 |
42,101,510 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1570:Pi4k2a
|
UTSW |
19 |
42,089,083 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1992:Pi4k2a
|
UTSW |
19 |
42,104,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Pi4k2a
|
UTSW |
19 |
42,103,510 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2358:Pi4k2a
|
UTSW |
19 |
42,079,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3547:Pi4k2a
|
UTSW |
19 |
42,078,987 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3708:Pi4k2a
|
UTSW |
19 |
42,079,370 (GRCm39) |
nonsense |
probably null |
|
|
R3712:Pi4k2a
|
UTSW |
19 |
42,079,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3954:Pi4k2a
|
UTSW |
19 |
42,104,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4654:Pi4k2a
|
UTSW |
19 |
42,101,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5077:Pi4k2a
|
UTSW |
19 |
42,108,275 (GRCm39) |
splice site |
probably null |
|
|
R5386:Pi4k2a
|
UTSW |
19 |
42,078,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5846:Pi4k2a
|
UTSW |
19 |
42,103,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5867:Pi4k2a
|
UTSW |
19 |
42,093,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5878:Pi4k2a
|
UTSW |
19 |
42,089,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6502:Pi4k2a
|
UTSW |
19 |
42,079,371 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7042:Pi4k2a
|
UTSW |
19 |
42,093,337 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7269:Pi4k2a
|
UTSW |
19 |
42,079,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Pi4k2a
|
UTSW |
19 |
42,079,013 (GRCm39) |
missense |
probably benign |
|
|
R8249:Pi4k2a
|
UTSW |
19 |
42,103,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8560:Pi4k2a
|
UTSW |
19 |
42,089,151 (GRCm39) |
nonsense |
probably null |
|
|
R9038:Pi4k2a
|
UTSW |
19 |
42,089,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pi4k2a
|
UTSW |
19 |
42,093,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCTCTTCCCTTCTGTAAAATGAA -3'
(R):5'- AGTGACGGTGCCACCATAAA -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GGTGCCACCATAAACCATCTACTTTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation