Incidental Mutation 'IGL01659:Napepld'
| ID |
103106 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Napepld
|
| Ensembl Gene |
ENSMUSG00000044968 |
| Gene Name |
N-acyl phosphatidylethanolamine phospholipase D |
| Synonyms |
NAPE-PLD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21867899-21906394 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21880714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 227
(V227A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060899]
[ENSMUST00000115217]
|
| AlphaFold |
Q8BH82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060899
AA Change: V227A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: V227A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Pfam:Lactamase_B_3
|
126 |
343 |
1.5e-14 |
PFAM |
|
Pfam:Lactamase_B_2
|
142 |
344 |
2.7e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115217
AA Change: V227A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: V227A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Pfam:Lactamase_B_3
|
126 |
343 |
1.3e-13 |
PFAM |
|
Pfam:Lactamase_B_2
|
142 |
344 |
1.4e-39 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and healthy, but have abnormal brain levels of N-acyl ethanolamines and N-acyl phosphatidylethanolamines. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,360,790 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,110 (GRCm39) |
S581P |
probably damaging |
Het |
| Arl13b |
T |
C |
16: 62,623,113 (GRCm39) |
S370G |
possibly damaging |
Het |
| Cdr2 |
G |
T |
7: 120,557,772 (GRCm39) |
A251E |
probably damaging |
Het |
| Clec4a4 |
A |
T |
6: 123,000,894 (GRCm39) |
E202D |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,309,568 (GRCm39) |
|
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,492,178 (GRCm39) |
|
probably null |
Het |
| Flnc |
A |
G |
6: 29,448,670 (GRCm39) |
T1303A |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,847,619 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,450,275 (GRCm39) |
E487G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,331,034 (GRCm39) |
L454P |
probably damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,529 (GRCm39) |
C169* |
probably null |
Het |
| Rad51 |
T |
A |
2: 118,949,183 (GRCm39) |
I61K |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,709,733 (GRCm39) |
H431Q |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,451,377 (GRCm39) |
N2725S |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,711,521 (GRCm39) |
E64G |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,729,281 (GRCm39) |
Y39C |
probably damaging |
Het |
|
| Other mutations in Napepld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Napepld
|
APN |
5 |
21,888,191 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01726:Napepld
|
APN |
5 |
21,880,657 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02083:Napepld
|
APN |
5 |
21,881,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Napepld
|
APN |
5 |
21,888,440 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1763:Napepld
|
UTSW |
5 |
21,888,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1903:Napepld
|
UTSW |
5 |
21,870,270 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2166:Napepld
|
UTSW |
5 |
21,888,230 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3861:Napepld
|
UTSW |
5 |
21,888,287 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4899:Napepld
|
UTSW |
5 |
21,888,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5629:Napepld
|
UTSW |
5 |
21,880,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5794:Napepld
|
UTSW |
5 |
21,888,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6273:Napepld
|
UTSW |
5 |
21,870,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7619:Napepld
|
UTSW |
5 |
21,880,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Napepld
|
UTSW |
5 |
21,888,263 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7846:Napepld
|
UTSW |
5 |
21,880,721 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7852:Napepld
|
UTSW |
5 |
21,888,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8050:Napepld
|
UTSW |
5 |
21,870,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9348:Napepld
|
UTSW |
5 |
21,875,490 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9617:Napepld
|
UTSW |
5 |
21,875,561 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-01-21 |
Incidental Mutation