Incidental Mutation 'IGL02981:Abhd12'
| ID |
406550 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd12
|
| Ensembl Gene |
ENSMUSG00000032046 |
| Gene Name |
abhydrolase domain containing 12 |
| Synonyms |
1500011G07Rik, 6330583M11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL02981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
150674413-150746661 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150675044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 392
(S392P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045441]
[ENSMUST00000056149]
[ENSMUST00000141899]
|
| AlphaFold |
Q99LR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045441
|
| SMART Domains |
Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
113 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056149
AA Change: S392P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: S392P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
165 |
297 |
1.2e-16 |
PFAM |
|
Pfam:Abhydrolase_1
|
169 |
302 |
1.6e-13 |
PFAM |
|
Pfam:Abhydrolase_5
|
170 |
359 |
2.5e-22 |
PFAM |
|
Pfam:Abhydrolase_6
|
171 |
363 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141899
|
| SMART Domains |
Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
170 |
295 |
1.9e-16 |
PFAM |
|
Pfam:Abhydrolase_6
|
171 |
293 |
3.8e-15 |
PFAM |
|
Pfam:Abhydrolase_3
|
171 |
295 |
1.1e-6 |
PFAM |
|
Pfam:Abhydrolase_1
|
198 |
271 |
1.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156641
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
G |
A |
1: 63,610,112 (GRCm39) |
V705I |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,728,211 (GRCm39) |
D794A |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,965,305 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
G |
18: 80,797,504 (GRCm39) |
V857A |
possibly damaging |
Het |
| Banp |
T |
C |
8: 122,705,303 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,171 (GRCm39) |
N999Y |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,859,532 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,443,770 (GRCm39) |
I447T |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,112,255 (GRCm39) |
V1090A |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,903,969 (GRCm39) |
H210L |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,839,476 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
T |
C |
16: 92,117,757 (GRCm39) |
N177S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,573,862 (GRCm39) |
F97L |
probably benign |
Het |
| Fut8 |
C |
A |
12: 77,521,812 (GRCm39) |
P484T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,550 (GRCm39) |
E190G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,670 (GRCm39) |
D1472E |
possibly damaging |
Het |
| Hnrnpdl |
T |
C |
5: 100,184,958 (GRCm39) |
I298V |
possibly damaging |
Het |
| Jakmip2 |
C |
A |
18: 43,695,595 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
G |
A |
9: 32,233,877 (GRCm39) |
T146I |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,496 (GRCm39) |
F389V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 69,938,969 (GRCm39) |
V114A |
probably damaging |
Het |
| Or10a2 |
C |
A |
7: 106,673,758 (GRCm39) |
T241N |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,714 (GRCm39) |
G901R |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,240,656 (GRCm39) |
Y15H |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 105,320,267 (GRCm39) |
W39R |
probably benign |
Het |
| Poc5 |
T |
C |
13: 96,538,265 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
A |
G |
4: 124,552,236 (GRCm39) |
D246G |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,999,430 (GRCm39) |
Y219F |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,676,670 (GRCm39) |
K678E |
probably damaging |
Het |
| Rps2 |
T |
C |
17: 24,940,698 (GRCm39) |
F271L |
probably benign |
Het |
| Serpina3k |
C |
A |
12: 104,307,250 (GRCm39) |
Q161K |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,155,589 (GRCm39) |
T101A |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,904,861 (GRCm39) |
D112E |
probably benign |
Het |
| Tubal3 |
A |
G |
13: 3,983,257 (GRCm39) |
T346A |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,193,112 (GRCm39) |
F409S |
possibly damaging |
Het |
| Zbtb6 |
G |
A |
2: 37,319,176 (GRCm39) |
Q251* |
probably null |
Het |
|
| Other mutations in Abhd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02158:Abhd12
|
APN |
2 |
150,690,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02399:Abhd12
|
APN |
2 |
150,700,413 (GRCm39) |
splice site |
probably benign |
|
|
IGL02437:Abhd12
|
APN |
2 |
150,676,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0423:Abhd12
|
UTSW |
2 |
150,680,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0617:Abhd12
|
UTSW |
2 |
150,688,285 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0745:Abhd12
|
UTSW |
2 |
150,675,068 (GRCm39) |
splice site |
probably null |
|
|
R1651:Abhd12
|
UTSW |
2 |
150,690,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Abhd12
|
UTSW |
2 |
150,685,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Abhd12
|
UTSW |
2 |
150,690,338 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1833:Abhd12
|
UTSW |
2 |
150,690,338 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2298:Abhd12
|
UTSW |
2 |
150,743,414 (GRCm39) |
intron |
probably benign |
|
|
R3153:Abhd12
|
UTSW |
2 |
150,676,275 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4077:Abhd12
|
UTSW |
2 |
150,690,379 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4508:Abhd12
|
UTSW |
2 |
150,746,275 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5193:Abhd12
|
UTSW |
2 |
150,677,226 (GRCm39) |
makesense |
probably null |
|
|
R5898:Abhd12
|
UTSW |
2 |
150,681,698 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6250:Abhd12
|
UTSW |
2 |
150,681,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Abhd12
|
UTSW |
2 |
150,700,373 (GRCm39) |
missense |
probably benign |
|
|
R8354:Abhd12
|
UTSW |
2 |
150,676,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8967:Abhd12
|
UTSW |
2 |
150,679,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Abhd12
|
UTSW |
2 |
150,688,198 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Abhd12
|
UTSW |
2 |
150,746,334 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation