Incidental Mutation 'IGL01966:Acer2'
ID |
181538 |
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 # |
IGL01966
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
86792633-86853059 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to A
at 86835815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Arginine
at position 230
(*230R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045224]
[ENSMUST00000084433]
|
AlphaFold |
Q8VD53 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045224
AA Change: *276R
|
SMART Domains |
Protein: ENSMUSP00000040048 Gene: ENSMUSG00000038007 AA Change: *276R
Domain | Start | End | E-Value | Type |
Pfam:Ceramidase
|
6 |
261 |
1.1e-57 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000084433
AA Change: *230R
|
SMART Domains |
Protein: ENSMUSP00000081473 Gene: ENSMUSG00000038007 AA Change: *230R
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
Emx2 |
T |
A |
19: 59,448,021 (GRCm39) |
I24N |
possibly damaging |
Het |
Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
Kctd3 |
C |
T |
1: 188,724,859 (GRCm39) |
G241R |
probably damaging |
Het |
Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
Or8b1b |
A |
T |
9: 38,376,225 (GRCm39) |
D296V |
possibly damaging |
Het |
Oxsm |
T |
C |
14: 16,242,520 (GRCm38) |
N83S |
probably benign |
Het |
Paqr3 |
A |
G |
5: 97,247,502 (GRCm39) |
L202P |
probably benign |
Het |
Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
Rbbp8nl |
G |
A |
2: 179,922,782 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
Het |
|
Other mutations in Acer2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02378:Acer2
|
APN |
4 |
86,804,491 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02689:Acer2
|
APN |
4 |
86,835,692 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
2014-05-07 |