Incidental Mutation 'R4372:Pip4p2'
| ID |
326018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip4p2
|
| Ensembl Gene |
ENSMUSG00000028221 |
| Gene Name |
phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 |
| Synonyms |
2610319K07Rik, Tmem55a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4372 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
14864076-14915176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14912463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 191
(R191C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029875]
|
| AlphaFold |
Q9CZX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029875
AA Change: R191C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029875
Gene: ENSMUSG00000028221
AA Change: R191C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_55A
|
6 |
250 |
1.1e-104 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
C |
11: 106,919,293 (GRCm39) |
Y213H |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,646,376 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
T |
2: 4,754,421 (GRCm39) |
I175F |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,879 (GRCm39) |
R715H |
probably damaging |
Het |
| Ipp |
T |
A |
4: 116,372,560 (GRCm39) |
D196E |
possibly damaging |
Het |
| Kcna5 |
A |
G |
6: 126,510,320 (GRCm39) |
*603Q |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,960,497 (GRCm39) |
T1161A |
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,762,531 (GRCm39) |
Q468L |
probably damaging |
Het |
| Map7d2 |
A |
G |
X: 158,273,680 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,743,809 (GRCm39) |
E4015G |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,980,554 (GRCm39) |
V296A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,366 (GRCm39) |
S481P |
possibly damaging |
Het |
| Pklr |
C |
T |
3: 89,052,830 (GRCm39) |
R528* |
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Samsn1 |
G |
A |
16: 75,656,344 (GRCm39) |
T368I |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,866,767 (GRCm39) |
E241G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,964,599 (GRCm39) |
G729R |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,656 (GRCm39) |
V721A |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,092,930 (GRCm39) |
Y1076F |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,845,833 (GRCm39) |
|
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,697 (GRCm39) |
S689G |
probably benign |
Het |
|
| Other mutations in Pip4p2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01781:Pip4p2
|
APN |
4 |
14,893,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02100:Pip4p2
|
APN |
4 |
14,893,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1441:Pip4p2
|
UTSW |
4 |
14,892,477 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1693:Pip4p2
|
UTSW |
4 |
14,886,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3843:Pip4p2
|
UTSW |
4 |
14,886,553 (GRCm39) |
nonsense |
probably null |
|
|
R3861:Pip4p2
|
UTSW |
4 |
14,902,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4415:Pip4p2
|
UTSW |
4 |
14,912,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Pip4p2
|
UTSW |
4 |
14,912,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7226:Pip4p2
|
UTSW |
4 |
14,892,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7466:Pip4p2
|
UTSW |
4 |
14,912,477 (GRCm39) |
nonsense |
probably null |
|
|
R8851:Pip4p2
|
UTSW |
4 |
14,912,491 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9509:Pip4p2
|
UTSW |
4 |
14,892,485 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTTGTTGAAACATGTCAG -3'
(R):5'- AACTTGGGGATCTCTGAAGGG -3'
Sequencing Primer
(F):5'- CATGTCAGTTTATAATCCTGTCTGTC -3'
(R):5'- TCTGAAGGGTGTACCAAGTCTCAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation