Incidental Mutation 'R3108:Abhd2'
| ID |
263663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd2
|
| Ensembl Gene |
ENSMUSG00000039202 |
| Gene Name |
abhydrolase domain containing 2 |
| Synonyms |
2210009N18Rik, LABH2 |
| MMRRC Submission |
040582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
78923002-79015257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78973333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 104
(S104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037315]
|
| AlphaFold |
Q9QXM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037315
AA Change: S104L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: S104L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
124 |
362 |
1.1e-10 |
PFAM |
|
Pfam:Abhydrolase_1
|
126 |
383 |
2.3e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135333
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a gene trapped allele are overtly but exhibit enhanced migratory ability of cultured smooth muscle cells, and significant intimal hyperplasia after cuff placement. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,119,453 (GRCm39) |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,898,226 (GRCm39) |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,918,132 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,669 (GRCm39) |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
| Dtx2 |
G |
A |
5: 136,050,670 (GRCm39) |
V323M |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,076 (GRCm39) |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,256,903 (GRCm39) |
M227I |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
| Nup155 |
C |
A |
15: 8,146,790 (GRCm39) |
T210K |
probably null |
Het |
| Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,875 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,263,769 (GRCm39) |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,532,545 (GRCm39) |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,119,257 (GRCm39) |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,274,840 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,943,583 (GRCm39) |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,643,472 (GRCm39) |
S552P |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,797 (GRCm39) |
C676S |
probably damaging |
Het |
|
| Other mutations in Abhd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Abhd2
|
APN |
7 |
78,975,200 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03067:Abhd2
|
APN |
7 |
79,009,782 (GRCm39) |
missense |
probably benign |
|
|
Redeemer
|
UTSW |
7 |
79,003,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0363:Abhd2
|
UTSW |
7 |
79,000,561 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1587:Abhd2
|
UTSW |
7 |
79,003,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1921:Abhd2
|
UTSW |
7 |
78,998,104 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4374:Abhd2
|
UTSW |
7 |
78,973,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4621:Abhd2
|
UTSW |
7 |
78,975,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Abhd2
|
UTSW |
7 |
79,009,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5217:Abhd2
|
UTSW |
7 |
78,973,378 (GRCm39) |
missense |
probably benign |
|
|
R5599:Abhd2
|
UTSW |
7 |
78,946,746 (GRCm39) |
splice site |
probably null |
|
|
R6972:Abhd2
|
UTSW |
7 |
79,003,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7617:Abhd2
|
UTSW |
7 |
78,998,032 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7957:Abhd2
|
UTSW |
7 |
78,975,194 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8062:Abhd2
|
UTSW |
7 |
78,975,338 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8309:Abhd2
|
UTSW |
7 |
78,998,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Abhd2
|
UTSW |
7 |
78,946,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8437:Abhd2
|
UTSW |
7 |
78,998,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Abhd2
|
UTSW |
7 |
78,998,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACCCATTGTGTTTATGGTTAG -3'
(R):5'- CTGGCCTCTGAACACAATGG -3'
Sequencing Primer
(F):5'- GTACCTTTGTTCAATAAATGTGGAGG -3'
(R):5'- GGCATTTCACACACTGCT -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation