Incidental Mutation 'R3769:Pla2g5'
| ID |
273160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g5
|
| Ensembl Gene |
ENSMUSG00000041193 |
| Gene Name |
phospholipase A2, group V |
| Synonyms |
sPLA2 |
| MMRRC Submission |
040746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R3769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
138526558-138590780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 138528746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 70
(C70S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030524]
[ENSMUST00000102511]
[ENSMUST00000102512]
[ENSMUST00000102513]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030524
AA Change: C70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030524
Gene: ENSMUSG00000041193
AA Change: C70S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PA2c
|
21 |
137 |
1.16e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102511
AA Change: C70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099569
Gene: ENSMUSG00000041193
AA Change: C70S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PA2c
|
21 |
137 |
1.16e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102512
AA Change: C70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099570
Gene: ENSMUSG00000041193
AA Change: C70S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PA2c
|
21 |
137 |
1.16e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102513
AA Change: C70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099571
Gene: ENSMUSG00000041193
AA Change: C70S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PA2c
|
21 |
137 |
1.16e-52 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154844
|
| Meta Mutation Damage Score |
0.9545 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced acute zymosan-induced peritonitis and arachadonic acid metabolite release from stimulated peritoneal macrophages. Mice homozygous for a different knock-out allele exhibit reduced response to myocardial ischemia/reperfusion injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Ccer1 |
G |
A |
10: 97,530,414 (GRCm39) |
G359E |
probably damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,736,386 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
C |
2: 90,828,993 (GRCm39) |
V20A |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,828,950 (GRCm39) |
T318I |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,267,396 (GRCm39) |
D159G |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,513 (GRCm39) |
D369V |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,156,808 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm39) |
|
probably null |
Het |
| Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
| Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,405,338 (GRCm39) |
V76D |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,165 (GRCm39) |
V48A |
unknown |
Het |
| Hoxb5 |
A |
G |
11: 96,194,795 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,385,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
| Pex6 |
G |
T |
17: 47,035,311 (GRCm39) |
|
probably null |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,928 (GRCm39) |
A65T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
A |
G |
10: 58,820,013 (GRCm39) |
T275A |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,245,714 (GRCm39) |
I155N |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,785,357 (GRCm39) |
Y78H |
probably damaging |
Het |
| Snx15 |
T |
A |
19: 6,173,984 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,375,750 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,092,766 (GRCm39) |
V157A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,000 (GRCm39) |
Y446C |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,126,378 (GRCm39) |
T125A |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,532 (GRCm39) |
H20R |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,546 (GRCm39) |
I298F |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pla2g5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03304:Pla2g5
|
APN |
4 |
138,531,880 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Pla2g5
|
UTSW |
4 |
138,527,967 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0323:Pla2g5
|
UTSW |
4 |
138,527,967 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0325:Pla2g5
|
UTSW |
4 |
138,527,967 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3767:Pla2g5
|
UTSW |
4 |
138,528,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Pla2g5
|
UTSW |
4 |
138,528,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Pla2g5
|
UTSW |
4 |
138,528,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5620:Pla2g5
|
UTSW |
4 |
138,531,921 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6776:Pla2g5
|
UTSW |
4 |
138,527,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7065:Pla2g5
|
UTSW |
4 |
138,527,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Pla2g5
|
UTSW |
4 |
138,531,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Pla2g5
|
UTSW |
4 |
138,531,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Pla2g5
|
UTSW |
4 |
138,531,845 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8293:Pla2g5
|
UTSW |
4 |
138,531,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTCTCAACTGGGACTTCC -3'
(R):5'- TTTAACATCCAAGCACAGTGTCC -3'
Sequencing Primer
(F):5'- CCCTTTCCTGGAAGTCTAAAGAGG -3'
(R):5'- AGTGTCCCCAAGGTACCATTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation