Incidental Mutation 'R2987:Pla1a'
| ID |
257828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla1a
|
| Ensembl Gene |
ENSMUSG00000002847 |
| Gene Name |
phospholipase A1 member A |
| Synonyms |
Ps-pla1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
38216479-38253507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38228104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 258
(C258S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002926]
|
| AlphaFold |
Q8VI78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002926
AA Change: C258S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: C258S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
15 |
336 |
9.4e-111 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| 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 is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,402,358 (GRCm39) |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,364,661 (GRCm39) |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,275,784 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,041,306 (GRCm39) |
C1308S |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,478,133 (GRCm39) |
D2G |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,914,585 (GRCm39) |
E611K |
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,507 (GRCm39) |
I92V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,263,763 (GRCm39) |
L753F |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,666,513 (GRCm39) |
S14P |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,925 (GRCm39) |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,674,258 (GRCm39) |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,749,869 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
G |
A |
2: 38,837,306 (GRCm39) |
V150M |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,734,077 (GRCm39) |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,174,823 (GRCm39) |
D3744E |
possibly damaging |
Het |
| Plk2 |
A |
T |
13: 110,534,243 (GRCm39) |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,875,925 (GRCm39) |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,910,622 (GRCm39) |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,090,840 (GRCm39) |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,509 (GRCm39) |
V268A |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,700 (GRCm39) |
H21Q |
probably benign |
Het |
|
| Other mutations in Pla1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Pla1a
|
APN |
16 |
38,235,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Pla1a
|
APN |
16 |
38,227,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01126:Pla1a
|
APN |
16 |
38,228,001 (GRCm39) |
missense |
probably benign |
|
|
R1674:Pla1a
|
UTSW |
16 |
38,235,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2101:Pla1a
|
UTSW |
16 |
38,235,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2415:Pla1a
|
UTSW |
16 |
38,228,112 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4492:Pla1a
|
UTSW |
16 |
38,229,972 (GRCm39) |
missense |
probably benign |
|
|
R5365:Pla1a
|
UTSW |
16 |
38,237,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5424:Pla1a
|
UTSW |
16 |
38,235,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Pla1a
|
UTSW |
16 |
38,237,486 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6388:Pla1a
|
UTSW |
16 |
38,217,834 (GRCm39) |
missense |
probably benign |
|
|
R6443:Pla1a
|
UTSW |
16 |
38,229,949 (GRCm39) |
splice site |
probably null |
|
|
R6996:Pla1a
|
UTSW |
16 |
38,217,830 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7021:Pla1a
|
UTSW |
16 |
38,221,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7519:Pla1a
|
UTSW |
16 |
38,235,208 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8715:Pla1a
|
UTSW |
16 |
38,230,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAAATTGCCAAGGTTAGC -3'
(R):5'- GAGGTAGGCAGGTCTGTTAATAC -3'
Sequencing Primer
(F):5'- CGAGGTTAGCCAAGGTTAGCC -3'
(R):5'- TAATACTTCAAAGTGTCGCCCAGGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation