Incidental Mutation 'IGL01405:Pla2g4d'
| ID |
79783 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pla2g4d
|
| Ensembl Gene |
ENSMUSG00000070719 |
| Gene Name |
phospholipase A2, group IVD |
| Synonyms |
Pla2delta, 2610311B01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120096347-120119678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120097304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 765
(N765S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094665]
|
| AlphaFold |
Q50L43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094665
AA Change: N765S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: N765S
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
32 |
132 |
1.12e-18 |
SMART |
|
PLAc
|
263 |
766 |
3.36e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
| Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
Het |
|
| Other mutations in Pla2g4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Pla2g4d
|
APN |
2 |
120,112,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Pla2g4d
|
APN |
2 |
120,111,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01657:Pla2g4d
|
APN |
2 |
120,105,768 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
BB001:Pla2g4d
|
UTSW |
2 |
120,119,645 (GRCm39) |
start gained |
probably benign |
|
|
R0962:Pla2g4d
|
UTSW |
2 |
120,111,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1564:Pla2g4d
|
UTSW |
2 |
120,099,384 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1576:Pla2g4d
|
UTSW |
2 |
120,114,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Pla2g4d
|
UTSW |
2 |
120,100,631 (GRCm39) |
splice site |
probably benign |
|
|
R1680:Pla2g4d
|
UTSW |
2 |
120,108,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1712:Pla2g4d
|
UTSW |
2 |
120,107,971 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2253:Pla2g4d
|
UTSW |
2 |
120,101,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2919:Pla2g4d
|
UTSW |
2 |
120,112,108 (GRCm39) |
splice site |
probably benign |
|
|
R3122:Pla2g4d
|
UTSW |
2 |
120,109,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4420:Pla2g4d
|
UTSW |
2 |
120,114,644 (GRCm39) |
missense |
probably benign |
|
|
R4737:Pla2g4d
|
UTSW |
2 |
120,097,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4829:Pla2g4d
|
UTSW |
2 |
120,097,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Pla2g4d
|
UTSW |
2 |
120,112,176 (GRCm39) |
nonsense |
probably null |
|
|
R5530:Pla2g4d
|
UTSW |
2 |
120,100,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5677:Pla2g4d
|
UTSW |
2 |
120,109,429 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6087:Pla2g4d
|
UTSW |
2 |
120,100,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Pla2g4d
|
UTSW |
2 |
120,100,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Pla2g4d
|
UTSW |
2 |
120,100,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Pla2g4d
|
UTSW |
2 |
120,101,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Pla2g4d
|
UTSW |
2 |
120,100,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Pla2g4d
|
UTSW |
2 |
120,114,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7339:Pla2g4d
|
UTSW |
2 |
120,109,459 (GRCm39) |
missense |
probably benign |
|
|
R7552:Pla2g4d
|
UTSW |
2 |
120,114,620 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7607:Pla2g4d
|
UTSW |
2 |
120,119,457 (GRCm39) |
missense |
probably benign |
|
|
R7692:Pla2g4d
|
UTSW |
2 |
120,109,776 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7860:Pla2g4d
|
UTSW |
2 |
120,097,211 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7924:Pla2g4d
|
UTSW |
2 |
120,119,645 (GRCm39) |
start gained |
probably benign |
|
|
R7972:Pla2g4d
|
UTSW |
2 |
120,109,413 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8373:Pla2g4d
|
UTSW |
2 |
120,107,980 (GRCm39) |
missense |
probably null |
1.00 |
|
R8737:Pla2g4d
|
UTSW |
2 |
120,100,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Pla2g4d
|
UTSW |
2 |
120,099,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8987:Pla2g4d
|
UTSW |
2 |
120,100,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Pla2g4d
|
UTSW |
2 |
120,100,453 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9251:Pla2g4d
|
UTSW |
2 |
120,099,378 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9740:Pla2g4d
|
UTSW |
2 |
120,107,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Pla2g4d
|
UTSW |
2 |
120,107,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Pla2g4d
|
UTSW |
2 |
120,112,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation