Incidental Mutation 'R9395:Pla2g3'
| ID |
710795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g3
|
| Ensembl Gene |
ENSMUSG00000034579 |
| Gene Name |
phospholipase A2, group III |
| Synonyms |
9130003P18Rik |
| MMRRC Submission |
068965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R9395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3438284-3449350 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 3440952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 306
(Q306*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044507]
[ENSMUST00000044682]
[ENSMUST00000064265]
[ENSMUST00000110018]
[ENSMUST00000110019]
[ENSMUST00000154756]
|
| AlphaFold |
Q8BZT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044507
|
| SMART Domains |
Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
413 |
N/A |
INTRINSIC |
|
IPPc
|
418 |
733 |
4.41e-98 |
SMART |
|
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
992 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000044682
AA Change: Q306*
|
| SMART Domains |
Protein: ENSMUSP00000041571
Gene: ENSMUSG00000034579
AA Change: Q306*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PA2c
|
139 |
259 |
1.58e-2 |
SMART |
|
low complexity region
|
305 |
324 |
N/A |
INTRINSIC |
|
Pfam:Phospholip_A2_2
|
343 |
431 |
4e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064265
AA Change: Q306*
|
| SMART Domains |
Protein: ENSMUSP00000068699
Gene: ENSMUSG00000034579
AA Change: Q306*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PA2c
|
139 |
259 |
1.58e-2 |
SMART |
|
low complexity region
|
305 |
324 |
N/A |
INTRINSIC |
|
Pfam:Phospholip_A2_2
|
343 |
426 |
5.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110018
|
| SMART Domains |
Protein: ENSMUSP00000105645
Gene: ENSMUSG00000034570
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
2 |
301 |
4e-86 |
SMART |
|
low complexity region
|
408 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110019
|
| SMART Domains |
Protein: ENSMUSP00000105646
Gene: ENSMUSG00000034570
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
2 |
301 |
4e-86 |
SMART |
|
low complexity region
|
408 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154756
|
| SMART Domains |
Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
413 |
N/A |
INTRINSIC |
|
IPPc
|
418 |
733 |
4.41e-98 |
SMART |
|
low complexity region
|
870 |
880 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice have reduced male fertility with smaller litter size and decreased susceptibility to IgE antigen-induced passive systemic and cutaneous anaphylaxis due to impaired mast cell maturation, degranulation and histamine release. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
| Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
| Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
| Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
| Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
| Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
| Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
| Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
| Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
| Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
| Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
| Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
probably benign |
Het |
|
| Other mutations in Pla2g3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0242:Pla2g3
|
UTSW |
11 |
3,441,935 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Pla2g3
|
UTSW |
11 |
3,441,935 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Pla2g3
|
UTSW |
11 |
3,442,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Pla2g3
|
UTSW |
11 |
3,438,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Pla2g3
|
UTSW |
11 |
3,440,983 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1961:Pla2g3
|
UTSW |
11 |
3,440,983 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2393:Pla2g3
|
UTSW |
11 |
3,443,115 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5151:Pla2g3
|
UTSW |
11 |
3,440,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5322:Pla2g3
|
UTSW |
11 |
3,438,686 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6018:Pla2g3
|
UTSW |
11 |
3,441,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Pla2g3
|
UTSW |
11 |
3,443,022 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8781:Pla2g3
|
UTSW |
11 |
3,438,530 (GRCm39) |
missense |
probably benign |
|
|
R8896:Pla2g3
|
UTSW |
11 |
3,442,151 (GRCm39) |
missense |
probably null |
0.52 |
|
R9345:Pla2g3
|
UTSW |
11 |
3,442,170 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTTTGGGAACAGGAATTC -3'
(R):5'- TTTGCAAACAGAGGTAAGAACACC -3'
Sequencing Primer
(F):5'- GGAATTCTGGGTCACTAAATGCCTC -3'
(R):5'- GAGGTAAGAACACCCACCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation