Incidental Mutation 'R6404:Pla2g7'
| ID |
518920 |
| 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 |
044549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43878989-43923092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43905688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 83
(Y83N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024706]
[ENSMUST00000167214]
[ENSMUST00000167418]
[ENSMUST00000169694]
|
| AlphaFold |
Q60963 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024706
AA Change: Y83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024706
Gene: ENSMUSG00000023913
AA Change: Y83N
| 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 damaging
Transcript: ENSMUST00000167214
AA Change: Y83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130404
Gene: ENSMUSG00000023913
AA Change: Y83N
| 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: ENSMUST00000167418
AA Change: Y83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131898
Gene: ENSMUSG00000023913
AA Change: Y83N
| 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 damaging
Transcript: ENSMUST00000169694
AA Change: Y83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132027
Gene: ENSMUSG00000023913
AA Change: Y83N
| 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: ENSMUST00000172072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169733
|
| Meta Mutation Damage Score |
0.9084 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (40/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,484,892 (GRCm39) |
D1540G |
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,062,509 (GRCm39) |
|
probably null |
Het |
| Apol10a |
C |
A |
15: 77,373,241 (GRCm39) |
F292L |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,719 (GRCm39) |
Y243* |
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,861,416 (GRCm39) |
N660D |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,538 (GRCm39) |
T466A |
probably benign |
Het |
| Ccdc74a |
A |
T |
16: 17,467,889 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Cd3e |
T |
A |
9: 44,912,426 (GRCm39) |
E106V |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,415,743 (GRCm39) |
Y2691H |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,820 (GRCm39) |
R2786G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,059,606 (GRCm39) |
T768A |
probably benign |
Het |
| Endou |
T |
A |
15: 97,610,012 (GRCm39) |
Q428L |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
G |
A |
7: 105,034,198 (GRCm39) |
R478* |
probably null |
Het |
| Frmd5 |
G |
A |
2: 121,379,699 (GRCm39) |
R70* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm4131 |
T |
A |
14: 62,718,598 (GRCm39) |
R3* |
probably null |
Het |
| Habp4 |
A |
G |
13: 64,330,000 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ift81 |
A |
T |
5: 122,749,069 (GRCm39) |
D27E |
probably damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,430,083 (GRCm39) |
I107V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,865,985 (GRCm39) |
I298T |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,361,825 (GRCm39) |
D199G |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,848,739 (GRCm39) |
S3F |
possibly damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,482 (GRCm39) |
E238G |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,737 (GRCm39) |
Y901C |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,097,220 (GRCm39) |
M121V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 97,989,314 (GRCm39) |
G278D |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,906 (GRCm39) |
I157M |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,890,107 (GRCm39) |
S172T |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,945,705 (GRCm39) |
I2079F |
probably damaging |
Het |
| Rara |
T |
C |
11: 98,851,839 (GRCm39) |
F17L |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,799,806 (GRCm39) |
T121I |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,046,330 (GRCm39) |
Y251C |
probably damaging |
Het |
| Slmap |
T |
A |
14: 26,143,566 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,853,985 (GRCm39) |
L319Q |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,793 (GRCm39) |
I457F |
probably damaging |
Het |
| Zfp57 |
A |
T |
17: 37,320,716 (GRCm39) |
H190L |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,179 (GRCm39) |
S271P |
possibly damaging |
Het |
| Zp2 |
A |
T |
7: 119,734,765 (GRCm39) |
H474Q |
possibly damaging |
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 |
|
R5713:Pla2g7
|
UTSW |
17 |
43,905,183 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- ACTGTGCCATTCCTCAGTTG -3'
(R):5'- CGTATGCAAATCTACATATGCAACC -3'
Sequencing Primer
(F):5'- TTGTCTCCTGATTAATTTAGCACTG -3'
(R):5'- CATATGCAACCATAGATAGATGTGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation