Incidental Mutation 'R2415:Pla1a'
| ID |
248987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla1a
|
| Ensembl Gene |
ENSMUSG00000002847 |
| Gene Name |
phospholipase A1 member A |
| Synonyms |
Ps-pla1 |
| MMRRC Submission |
040379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2415 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38216479-38253507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38228112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 255
(Y255F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002926]
|
| AlphaFold |
Q8VI78 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002926
AA Change: Y255F
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: Y255F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
15 |
336 |
9.4e-111 |
PFAM |
|
| Meta Mutation Damage Score |
0.2103 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano6 |
A |
T |
15: 95,860,161 (GRCm39) |
N761I |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,077 (GRCm39) |
S55P |
probably damaging |
Het |
| Cul9 |
T |
A |
17: 46,854,364 (GRCm39) |
T113S |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,211,727 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,186 (GRCm39) |
V467A |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,770,124 (GRCm39) |
F62I |
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,347,175 (GRCm39) |
M567K |
probably damaging |
Het |
| Fbxw21 |
G |
T |
9: 108,985,469 (GRCm39) |
A103E |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,929,932 (GRCm38) |
S2021T |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,641,256 (GRCm39) |
|
probably null |
Het |
| Grid1 |
A |
T |
14: 35,172,326 (GRCm39) |
I611F |
possibly damaging |
Het |
| Hdac1 |
A |
C |
4: 129,416,754 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,191,880 (GRCm39) |
E427G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,400,906 (GRCm39) |
T685S |
probably benign |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Ky |
G |
T |
9: 102,419,090 (GRCm39) |
G366W |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,131,977 (GRCm39) |
S147P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,305,411 (GRCm39) |
K405E |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,770,390 (GRCm39) |
F67V |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,047 (GRCm39) |
D316G |
probably damaging |
Het |
| Nudt12 |
A |
G |
17: 59,313,603 (GRCm39) |
V325A |
probably damaging |
Het |
| Pdia4 |
G |
T |
6: 47,783,490 (GRCm39) |
D184E |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,097,147 (GRCm39) |
F793V |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,570,626 (GRCm39) |
S269P |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,614 (GRCm39) |
V118D |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,789,729 (GRCm39) |
I764N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Surf6 |
C |
T |
2: 26,782,274 (GRCm39) |
R351H |
probably damaging |
Het |
| Tspan15 |
A |
G |
10: 62,037,570 (GRCm39) |
I115T |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,431 (GRCm39) |
Y179C |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,403,305 (GRCm39) |
D481G |
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 |
|
R2987:Pla1a
|
UTSW |
16 |
38,228,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGGAGTGAGGTCTTACCAATCC -3'
(R):5'- TTGACAGGCTAAGCTTCCATAG -3'
Sequencing Primer
(F):5'- GAGGTCTTACCAATCCTCGGACAG -3'
(R):5'- TCCATAGCTCAGGAAAATTAAAAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation