Incidental Mutation 'R0745:Abhd12'
| ID |
70906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd12
|
| Ensembl Gene |
ENSMUSG00000032046 |
| Gene Name |
abhydrolase domain containing 12 |
| Synonyms |
1500011G07Rik, 6330583M11Rik |
| MMRRC Submission |
038926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R0745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150674413-150746661 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 150675068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045441]
[ENSMUST00000056149]
[ENSMUST00000056149]
[ENSMUST00000056149]
[ENSMUST00000141899]
[ENSMUST00000141899]
[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 null
Transcript: ENSMUST00000056149
|
| SMART Domains |
Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
| 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 |
probably null
Transcript: ENSMUST00000056149
|
| SMART Domains |
Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
| 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 |
probably null
Transcript: ENSMUST00000056149
|
| SMART Domains |
Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
| 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: 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: 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
| Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
| Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
| Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
| Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
| Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
| Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
| Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
| Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
| Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCTCACAGGTCCATCAGGAGC -3'
(R):5'- TGAGCACTGTTGCTGCTGAAAGG -3'
Sequencing Primer
(F):5'- TCCATCAGGAGCCTCTGC -3'
(R):5'- GAGCAATATCCTGTGTAGTCCAGAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation