Incidental Mutation 'IGL00773:Pla2g7'
| ID |
13030 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pla2g7
|
| Ensembl Gene |
ENSMUSG00000023913 |
| Gene Name |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
| Synonyms |
PAF-AH, PAF acetylhydrolase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43878989-43923092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43913762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 235
(I235S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024706]
[ENSMUST00000167214]
[ENSMUST00000169694]
|
| AlphaFold |
Q60963 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024706
AA Change: I235S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024706
Gene: ENSMUSG00000023913
AA Change: I235S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PAF-AH_p_II
|
47 |
415 |
6e-179 |
PFAM |
|
Pfam:Abhydrolase_5
|
145 |
351 |
3.2e-18 |
PFAM |
|
Pfam:Abhydrolase_1
|
215 |
318 |
2.8e-7 |
PFAM |
|
Pfam:Peptidase_S9
|
247 |
356 |
2e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163489
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167214
|
| SMART Domains |
Protein: ENSMUSP00000130404
Gene: ENSMUSG00000023913
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PAF-AH_p_II
|
47 |
210 |
7.9e-71 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169694
AA Change: I235S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132027
Gene: ENSMUSG00000023913
AA Change: I235S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PAF-AH_p_II
|
47 |
298 |
6.1e-120 |
PFAM |
|
Pfam:Abhydrolase_5
|
145 |
298 |
1.4e-15 |
PFAM |
|
Pfam:Abhydrolase_6
|
146 |
298 |
4.5e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
246 |
298 |
4.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| 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 secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced early mortality in response to bacterial exposure, formula feeding and asphyxia, but survivors show a significantly higher incidence of necrotizing enterocolitis relative to wild-type controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,594 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,931,943 (GRCm39) |
S195F |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,433,444 (GRCm39) |
H269N |
probably benign |
Het |
| Cdc25c |
A |
T |
18: 34,880,294 (GRCm39) |
S147T |
probably benign |
Het |
| Cdnf |
A |
G |
2: 3,520,392 (GRCm39) |
D57G |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,582,965 (GRCm39) |
D1138G |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,497,602 (GRCm39) |
S51P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,454,115 (GRCm39) |
M3577T |
probably damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,941,493 (GRCm39) |
A246V |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,735,532 (GRCm39) |
S827T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,387,047 (GRCm39) |
Q862L |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,089,486 (GRCm39) |
L146P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,960 (GRCm39) |
V407A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,085,247 (GRCm39) |
I1751T |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,727,314 (GRCm39) |
L528P |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,914,296 (GRCm39) |
T1233M |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,654,572 (GRCm39) |
M798I |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,628 (GRCm39) |
K1573E |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,999 (GRCm39) |
V272M |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,421 (GRCm39) |
F994Y |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,118,016 (GRCm39) |
M240I |
possibly damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,599,232 (GRCm39) |
I288F |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,692,860 (GRCm39) |
I160N |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Snx14 |
A |
T |
9: 88,276,592 (GRCm39) |
D564E |
probably damaging |
Het |
| Tceanc |
T |
A |
X: 165,285,857 (GRCm39) |
L179F |
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,251 (GRCm39) |
K251E |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,785,048 (GRCm39) |
R191* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,877,523 (GRCm39) |
M602K |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,520 (GRCm39) |
D282E |
probably benign |
Het |
|
| Other mutations in Pla2g7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0026:Pla2g7
|
UTSW |
17 |
43,905,821 (GRCm39) |
splice site |
probably benign |
|
|
R0421:Pla2g7
|
UTSW |
17 |
43,922,303 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1701:Pla2g7
|
UTSW |
17 |
43,911,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4591:Pla2g7
|
UTSW |
17 |
43,911,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5100:Pla2g7
|
UTSW |
17 |
43,922,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Pla2g7
|
UTSW |
17 |
43,905,183 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6404:Pla2g7
|
UTSW |
17 |
43,905,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Pla2g7
|
UTSW |
17 |
43,910,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Pla2g7
|
UTSW |
17 |
43,909,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Pla2g7
|
UTSW |
17 |
43,911,512 (GRCm39) |
splice site |
probably null |
|
|
R7998:Pla2g7
|
UTSW |
17 |
43,922,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Pla2g7
|
UTSW |
17 |
43,913,810 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation