Incidental Mutation 'IGL02689:Acer2'
| ID |
303666 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acer2
|
| Ensembl Gene |
ENSMUSG00000038007 |
| Gene Name |
alkaline ceramidase 2 |
| Synonyms |
2410116I05Rik, Asah3l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
IGL02689
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
86792633-86853059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86835692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 235
(A235S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045224]
[ENSMUST00000084433]
|
| AlphaFold |
Q8VD53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045224
AA Change: A235S
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: A235S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ceramidase
|
6 |
261 |
1.1e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084433
AA Change: A189S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: A189S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ceramidase
|
7 |
123 |
2.6e-40 |
PFAM |
|
Pfam:Ceramidase
|
112 |
217 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128712
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
G |
6: 86,084,388 (GRCm39) |
I479V |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,168 (GRCm39) |
M28K |
probably benign |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,993 (GRCm39) |
S87G |
probably benign |
Het |
| Atraid |
T |
C |
5: 31,209,826 (GRCm39) |
L46P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,772 (GRCm39) |
Y509* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,739,128 (GRCm39) |
L1257Q |
probably damaging |
Het |
| Csn1s2b |
A |
G |
5: 87,957,780 (GRCm39) |
I5V |
probably benign |
Het |
| Dhps |
T |
C |
8: 85,800,379 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,962 (GRCm39) |
S717P |
probably damaging |
Het |
| Dppa5a |
G |
T |
9: 78,275,113 (GRCm39) |
S63Y |
probably damaging |
Het |
| Eif3l |
A |
T |
15: 78,970,719 (GRCm39) |
D331V |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,412,253 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,253,662 (GRCm39) |
Q18K |
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,251,918 (GRCm39) |
K56R |
probably damaging |
Het |
| H2-M3 |
T |
A |
17: 37,581,432 (GRCm39) |
Y31* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,815,031 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,782,687 (GRCm39) |
A675S |
possibly damaging |
Het |
| Lipo5 |
G |
A |
19: 33,445,186 (GRCm39) |
H128Y |
unknown |
Het |
| Or2bd2 |
T |
C |
7: 6,443,574 (GRCm39) |
L225P |
possibly damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,171 (GRCm39) |
I89V |
probably benign |
Het |
| Pdk4 |
C |
T |
6: 5,487,408 (GRCm39) |
V281I |
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,970,858 (GRCm39) |
G202D |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,462,149 (GRCm39) |
N260S |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,487,594 (GRCm39) |
F1623L |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,934 (GRCm39) |
F203S |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,596 (GRCm39) |
L210S |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,065,704 (GRCm39) |
|
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,475,270 (GRCm39) |
F226S |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,289,839 (GRCm39) |
|
probably benign |
Het |
| Tmx3 |
A |
G |
18: 90,555,240 (GRCm39) |
N319S |
possibly damaging |
Het |
| Trmt1 |
G |
T |
8: 85,426,385 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Acer2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01966:Acer2
|
APN |
4 |
86,835,815 (GRCm39) |
makesense |
probably null |
|
|
IGL02378:Acer2
|
APN |
4 |
86,804,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02936:Acer2
|
APN |
4 |
86,818,796 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
hectare
|
UTSW |
4 |
86,818,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
square
|
UTSW |
4 |
86,805,287 (GRCm39) |
missense |
probably null |
1.00 |
|
PIT4280001:Acer2
|
UTSW |
4 |
86,805,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Acer2
|
UTSW |
4 |
86,805,399 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0734:Acer2
|
UTSW |
4 |
86,835,796 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4273:Acer2
|
UTSW |
4 |
86,792,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4384:Acer2
|
UTSW |
4 |
86,792,805 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5739:Acer2
|
UTSW |
4 |
86,818,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5926:Acer2
|
UTSW |
4 |
86,792,805 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6267:Acer2
|
UTSW |
4 |
86,792,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6457:Acer2
|
UTSW |
4 |
86,818,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Acer2
|
UTSW |
4 |
86,805,287 (GRCm39) |
missense |
probably null |
1.00 |
|
R7456:Acer2
|
UTSW |
4 |
86,792,748 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8016:Acer2
|
UTSW |
4 |
86,804,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8123:Acer2
|
UTSW |
4 |
86,805,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation