Incidental Mutation 'R5599:Abhd2'
ID 438942
Institutional Source Beutler Lab
Gene Symbol Abhd2
Ensembl Gene ENSMUSG00000039202
Gene Name abhydrolase domain containing 2
Synonyms 2210009N18Rik, LABH2
MMRRC Submission 043151-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R5599 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 78923002-79015257 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 78946746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
AlphaFold Q9QXM0
Predicted Effect probably null
Transcript: ENSMUST00000037315
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205557
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat3 T C 10: 78,110,103 (GRCm39) D282G probably benign Het
Ankhd1 G A 18: 36,693,860 (GRCm39) A24T probably damaging Het
Cracdl T C 1: 37,652,424 (GRCm39) N1128D possibly damaging Het
Cry1 A T 10: 84,980,114 (GRCm39) M398K probably benign Het
Dpp10 A G 1: 123,832,803 (GRCm39) I47T probably damaging Het
Fpr-rs6 C T 17: 20,402,375 (GRCm39) D329N probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gxylt1 CTCATCCGGGTCAT CTCAT 15: 93,152,198 (GRCm39) probably benign Het
Hnrnpul1 G A 7: 25,454,097 (GRCm39) probably benign Het
Lbx1 T A 19: 45,223,519 (GRCm39) S50C probably damaging Het
Lims2 A G 18: 32,090,324 (GRCm39) N183S probably benign Het
Lrp1 T C 10: 127,429,738 (GRCm39) N444S probably damaging Het
Mast4 A T 13: 102,873,987 (GRCm39) C1626S probably damaging Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Nf2 T C 11: 4,732,269 (GRCm39) E553G probably damaging Het
Nfatc4 A T 14: 56,069,733 (GRCm39) T704S probably benign Het
Or4c3d A G 2: 89,882,563 (GRCm39) V35A probably benign Het
Or56a3 T C 7: 104,735,757 (GRCm39) probably null Het
Or7g29 T G 9: 19,286,925 (GRCm39) N84T possibly damaging Het
Or9m1b T G 2: 87,836,349 (GRCm39) I258L probably benign Het
Plekha7 T A 7: 115,776,117 (GRCm39) probably null Het
Polr1a T C 6: 71,944,346 (GRCm39) M1271T possibly damaging Het
Ppip5k2 A G 1: 97,668,323 (GRCm39) M595T probably damaging Het
Ppox A T 1: 171,105,033 (GRCm39) V412D probably damaging Het
Ppp1r12b A G 1: 134,793,645 (GRCm39) V573A probably benign Het
Prkcb T C 7: 122,181,701 (GRCm39) Y430H probably benign Het
Psmd6 A C 14: 14,120,144 (GRCm38) M65R probably benign Het
Rbm12 G A 2: 155,938,713 (GRCm39) R520* probably null Het
Rin3 T C 12: 102,356,188 (GRCm39) F830L probably damaging Het
Sema4b A G 7: 79,863,039 (GRCm39) K104R probably benign Het
Slitrk1 T C 14: 109,149,244 (GRCm39) D489G probably benign Het
Spef2 T C 15: 9,729,789 (GRCm39) T110A possibly damaging Het
Sult2a6 T A 7: 13,988,629 (GRCm39) K44* probably null Het
Tasor A G 14: 27,201,886 (GRCm39) N1427D probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tcstv2c A C 13: 120,616,458 (GRCm39) Q99P probably damaging Het
Tnxb G T 17: 34,909,176 (GRCm39) G1445V probably damaging Het
Tnxb T C 17: 34,909,179 (GRCm39) V1569A probably benign Het
Zcchc2 A G 1: 105,959,880 (GRCm39) D1163G probably damaging Het
Zfp365 C T 10: 67,745,197 (GRCm39) E194K probably damaging Het
Other mutations in Abhd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3108:Abhd2 UTSW 7 78,973,333 (GRCm39) missense probably benign 0.01
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
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'- GGCACTTTAGAACTGTTTTCCTGG -3'
(R):5'- AGGCAGGACAGTGAACTCAC -3'

Sequencing Primer
(F):5'- ACTTTAGAACTGTTTTCCTGGTGATG -3'
(R):5'- CTCACTCTTTGGTCAGAAGAGGAC -3'
Posted On 2016-10-26