Incidental Mutation 'IGL03067:Abhd2'
ID409737
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: 0.341) question?
Stock #IGL03067
Quality Score
Status
Chromosome7
Chromosomal Location79273199-79365508 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79360034 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 386 (F386L)
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
Predicted Effect probably benign
Transcript: ENSMUST00000037315
AA Change: F386L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: F386L

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 120,010,083 D1162E probably benign Het
Adamts6 C T 13: 104,297,275 R71W probably damaging Het
Adgrv1 T C 13: 81,442,480 Y4403C probably damaging Het
Aldoart1 A T 4: 72,851,957 C205S possibly damaging Het
Ap2a1 C A 7: 44,903,511 A711S probably benign Het
Arhgef28 A G 13: 97,988,286 I496T probably benign Het
Cyp27a1 A G 1: 74,731,909 probably null Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dpy19l1 A G 9: 24,438,660 V428A probably benign Het
Foxk2 C T 11: 121,285,568 T180M possibly damaging Het
Gm3402 C A 5: 146,514,589 H86N possibly damaging Het
Gm3543 A G 14: 41,980,873 probably benign Het
Gnai3 T C 3: 108,118,293 probably benign Het
Hmcn2 C T 2: 31,346,630 P395L probably damaging Het
Igsf10 T C 3: 59,318,918 I2445V probably benign Het
Il10ra T C 9: 45,255,859 T465A probably benign Het
Itpr2 G A 6: 146,325,182 L1322F probably damaging Het
Man1b1 T C 2: 25,349,332 Y536H probably benign Het
P3h1 A G 4: 119,235,280 H170R probably damaging Het
Pakap A T 4: 57,648,038 T59S probably benign Het
Parp14 A G 16: 35,856,508 V1030A probably benign Het
Pdzd2 A G 15: 12,388,542 probably null Het
Pilra T C 5: 137,823,581 Y264C probably damaging Het
Ptprf A G 4: 118,210,713 V1799A possibly damaging Het
Rap1gap2 A G 11: 74,393,412 S649P possibly damaging Het
Rasgrf2 T C 13: 92,022,905 M426V probably damaging Het
Rpl9 A G 5: 65,390,848 I18T possibly damaging Het
Slc6a19 C A 13: 73,689,730 E217* probably null Het
Smtn C A 11: 3,530,165 R352L possibly damaging Het
Supv3l1 C A 10: 62,429,821 D647Y probably damaging Het
Sv2a A G 3: 96,185,182 Y66C probably damaging Het
Upk1b A G 16: 38,784,910 I107T probably damaging Het
Yif1a T C 19: 5,089,785 V86A possibly damaging Het
Zfp820 T C 17: 21,819,820 T176A possibly damaging Het
Other mutations in Abhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Abhd2 APN 7 79325452 missense possibly damaging 0.91
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 On2016-08-02