Incidental Mutation 'IGL01506:Abhd2'
ID89065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd2
Ensembl Gene ENSMUSG00000039202
Gene Nameabhydrolase domain containing 2
SynonymsLABH2, 2210009N18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.431) question?
Stock #IGL01506
Quality Score
Status
Chromosome7
Chromosomal Location79273199-79365508 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79325452 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 130 (I130N)
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037315
AA Change: I130N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: I130N

DomainStartEndE-ValueType
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
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 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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,297,447 V2398A probably benign Het
Adamts15 A T 9: 30,922,134 I35N probably benign Het
Car8 T A 4: 8,169,761 E249V probably damaging Het
Dpp8 A G 9: 65,063,417 probably benign Het
Gstm2 T G 3: 107,985,243 probably null Het
Kcnmb4 A G 10: 116,473,346 V59A probably benign Het
Krt76 T C 15: 101,892,400 I154V probably damaging Het
Lama1 G A 17: 67,785,070 R1646H probably benign Het
Larp1b C A 3: 41,033,440 Y32* probably null Het
Magea4 G A X: 72,222,770 D252N probably damaging Het
Mat1a C A 14: 41,109,438 A41E probably damaging Het
Neb A T 2: 52,247,190 V3190E probably damaging Het
Nop53 G A 7: 15,940,157 P249L probably damaging Het
Olfr907 A G 9: 38,498,875 I69V probably benign Het
Osbpl7 T C 11: 97,052,300 L126P probably benign Het
Plxna4 A T 6: 32,516,535 L382Q probably damaging Het
Poli G A 18: 70,509,731 T403I probably benign Het
Slc44a2 T C 9: 21,337,950 Y9H probably benign Het
Snx4 T C 16: 33,264,254 probably benign Het
Son A T 16: 91,657,286 I974L possibly damaging Het
Stil T C 4: 115,024,112 S618P probably benign Het
Syndig1 C T 2: 149,899,757 R88C probably damaging Het
Trpm1 T A 7: 64,243,581 F944L probably damaging Het
Other mutations in Abhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03067:Abhd2 APN 7 79360034 missense probably benign
R0363:Abhd2 UTSW 7 79350813 missense possibly damaging 0.81
R1587:Abhd2 UTSW 7 79354010 missense probably benign 0.01
R1921:Abhd2 UTSW 7 79348356 missense possibly damaging 0.83
R3108:Abhd2 UTSW 7 79323585 missense probably benign 0.01
R4374:Abhd2 UTSW 7 79323530 missense probably benign 0.00
R4621:Abhd2 UTSW 7 79325487 missense probably damaging 1.00
R4763:Abhd2 UTSW 7 79360131 missense probably benign 0.00
R5217:Abhd2 UTSW 7 79323630 missense probably benign
R5599:Abhd2 UTSW 7 79296998 splice site probably null
R6972:Abhd2 UTSW 7 79354027 missense probably benign 0.02
R7617:Abhd2 UTSW 7 79348284 missense probably benign 0.10
R8062:Abhd2 UTSW 7 79325590 missense possibly damaging 0.81
Posted On2013-12-03