Incidental Mutation 'R5713:Pla2g7'
| ID |
451021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g7
|
| Ensembl Gene |
ENSMUSG00000023913 |
| Gene Name |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
| Synonyms |
PAF-AH, PAF acetylhydrolase |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43878989-43923092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43905183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 37
(M37K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024706]
[ENSMUST00000167214]
[ENSMUST00000167418]
[ENSMUST00000169694]
|
| AlphaFold |
Q60963 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024706
AA Change: M37K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000024706
Gene: ENSMUSG00000023913
AA Change: M37K
| 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 |
noncoding transcript
Transcript: ENSMUST00000164150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167214
AA Change: M37K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130404
Gene: ENSMUSG00000023913
AA Change: M37K
| 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 benign
Transcript: ENSMUST00000167418
AA Change: M37K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000131898
Gene: ENSMUSG00000023913
AA Change: M37K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PAF-AH_p_II
|
47 |
122 |
1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169694
AA Change: M37K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132027
Gene: ENSMUSG00000023913
AA Change: M37K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172072
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
probably benign |
Het |
|
| Other mutations in Pla2g7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Pla2g7
|
APN |
17 |
43,913,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCAGGCCTTTGAGTGG -3'
(R):5'- GCCGGTTAGTCATTCTCAGGAG -3'
Sequencing Primer
(F):5'- ACCCATGTAAAACTGGGTGTCTGTC -3'
(R):5'- GCTACCACCTGTGCTAGAAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation