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]
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,163,902 (GRCm39) |
|
probably null |
Het |
Abca2 |
A |
G |
2: 25,337,891 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
A |
T |
2: 69,130,269 (GRCm39) |
S262R |
probably damaging |
Het |
Adam1a |
A |
T |
5: 121,657,034 (GRCm39) |
L753* |
probably null |
Het |
Ahctf1 |
A |
T |
1: 179,607,217 (GRCm39) |
I699N |
possibly damaging |
Het |
Arl11 |
C |
A |
14: 61,548,487 (GRCm39) |
A99E |
probably damaging |
Het |
Atp5po |
G |
A |
16: 91,727,289 (GRCm39) |
R16W |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,510,621 (GRCm39) |
H238R |
probably null |
Het |
Bpifb9a |
C |
A |
2: 154,108,733 (GRCm39) |
|
probably benign |
Het |
Carhsp1 |
A |
G |
16: 8,481,577 (GRCm39) |
|
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,937,702 (GRCm39) |
D623G |
probably damaging |
Het |
Chd6 |
C |
A |
2: 160,868,212 (GRCm39) |
R378L |
possibly damaging |
Het |
Chn2 |
T |
C |
6: 54,277,230 (GRCm39) |
|
probably benign |
Het |
Clgn |
T |
G |
8: 84,149,765 (GRCm39) |
I422S |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,300,606 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,556,574 (GRCm39) |
I470T |
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,801,980 (GRCm39) |
|
probably null |
Het |
Dnah1 |
G |
T |
14: 31,022,924 (GRCm39) |
T1071K |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,348,949 (GRCm39) |
M2513L |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,035,891 (GRCm39) |
|
probably benign |
Het |
Gm1587 |
T |
C |
14: 78,036,282 (GRCm39) |
E8G |
unknown |
Het |
Hydin |
T |
C |
8: 111,336,598 (GRCm39) |
I5125T |
possibly damaging |
Het |
Ighv5-9 |
G |
T |
12: 113,625,563 (GRCm39) |
P60Q |
probably damaging |
Het |
Itga7 |
T |
G |
10: 128,789,651 (GRCm39) |
L993R |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,317,416 (GRCm39) |
N857S |
probably damaging |
Het |
Krt23 |
C |
T |
11: 99,383,490 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,390,140 (GRCm39) |
N3093S |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,505,349 (GRCm39) |
F203S |
probably damaging |
Het |
Morn5 |
A |
G |
2: 35,947,088 (GRCm39) |
D122G |
probably damaging |
Het |
Mpp2 |
G |
T |
11: 101,954,088 (GRCm39) |
L220I |
probably benign |
Het |
Mrgpra6 |
A |
T |
7: 46,835,700 (GRCm39) |
Y240* |
probably null |
Het |
Mtmr12 |
T |
C |
15: 12,238,016 (GRCm39) |
I165T |
probably damaging |
Het |
Mylk2 |
C |
A |
2: 152,761,077 (GRCm39) |
N428K |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,188 (GRCm39) |
Y239H |
probably damaging |
Het |
Notch1 |
A |
G |
2: 26,350,351 (GRCm39) |
L2263P |
probably damaging |
Het |
Or2g7 |
T |
A |
17: 38,378,158 (GRCm39) |
I32N |
probably damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,425 (GRCm39) |
M148V |
probably benign |
Het |
P3h3 |
A |
T |
6: 124,830,055 (GRCm39) |
Y387N |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,509,121 (GRCm39) |
Y324* |
probably null |
Het |
Plcb2 |
C |
A |
2: 118,541,844 (GRCm39) |
R922L |
probably benign |
Het |
Pml |
T |
C |
9: 58,154,286 (GRCm39) |
T196A |
probably benign |
Het |
Ppp2r1b |
C |
A |
9: 50,772,909 (GRCm39) |
Q65K |
probably benign |
Het |
Ric8a |
A |
G |
7: 140,442,270 (GRCm39) |
T507A |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,306,644 (GRCm39) |
|
probably null |
Het |
Slc46a3 |
G |
T |
5: 147,823,044 (GRCm39) |
T266N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,812,169 (GRCm39) |
S41P |
possibly damaging |
Het |
Snrnp200 |
T |
A |
2: 127,079,403 (GRCm39) |
N1837K |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,920,336 (GRCm39) |
T2318A |
probably damaging |
Het |
St7l |
C |
T |
3: 104,782,148 (GRCm39) |
T175I |
possibly damaging |
Het |
Tmc7 |
G |
A |
7: 118,137,434 (GRCm39) |
R703C |
probably damaging |
Het |
Urah |
A |
G |
7: 140,416,799 (GRCm39) |
|
probably benign |
Het |
Vmn1r42 |
A |
T |
6: 89,822,296 (GRCm39) |
I91N |
probably damaging |
Het |
Yy1 |
T |
A |
12: 108,780,525 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Abhd12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02981:Abhd12
|
APN |
2 |
150,675,044 (GRCm39) |
missense |
probably benign |
|
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 |
|