Incidental Mutation 'R6972:Abhd2'
ID 542300
Institutional Source Beutler Lab
Gene Symbol Abhd2
Ensembl Gene ENSMUSG00000039202
Gene Name abhydrolase domain containing 2
Synonyms 2210009N18Rik, LABH2
MMRRC Submission 045082-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6972 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 78923002-79015257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79003775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 285 (S285G)
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
AlphaFold Q9QXM0
Predicted Effect probably benign
Transcript: ENSMUST00000037315
AA Change: S285G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: S285G

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
Meta Mutation Damage Score 0.0641 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T C 10: 42,354,370 (GRCm39) T10A probably benign Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
Bdp1 T C 13: 100,174,269 (GRCm39) E2089G probably null Het
Calcrl T G 2: 84,198,922 (GRCm39) I156L probably benign Het
Cd69 T C 6: 129,246,543 (GRCm39) S122G probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Ckap5 T A 2: 91,436,658 (GRCm39) I1586K probably damaging Het
Cyp4f14 C T 17: 33,124,483 (GRCm39) A523T probably benign Het
Dcaf1 T A 9: 106,723,971 (GRCm39) C466* probably null Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Eml5 T C 12: 98,842,439 (GRCm39) I220V probably benign Het
Etv2 T C 7: 30,334,167 (GRCm39) N189D probably benign Het
Fuz T C 7: 44,546,755 (GRCm39) probably benign Het
Git1 T G 11: 77,390,347 (GRCm39) V64G probably damaging Het
Gpr162 C T 6: 124,838,272 (GRCm39) R126H probably damaging Het
Grm5 T C 7: 87,252,131 (GRCm39) V127A probably benign Het
Iqsec1 T C 6: 90,653,750 (GRCm39) D665G probably damaging Het
Kcnh1 A G 1: 191,959,144 (GRCm39) I233V probably damaging Het
Lmcd1 C T 6: 112,287,659 (GRCm39) T115I probably damaging Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or2ag16 A G 7: 106,351,906 (GRCm39) S230P possibly damaging Het
Orc4 T C 2: 48,817,196 (GRCm39) Q164R probably benign Het
Pcdhb14 T A 18: 37,582,745 (GRCm39) V617E probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plscr3 G A 11: 69,738,784 (GRCm39) E149K probably damaging Het
Pltp A G 2: 164,688,512 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,472 (GRCm39) L234P probably damaging Het
Prg2 G A 2: 84,812,617 (GRCm39) R109H probably benign Het
Ptprj G A 2: 90,410,747 (GRCm39) S62F possibly damaging Het
Resf1 T A 6: 149,227,607 (GRCm39) Y218N probably damaging Het
Skint3 T A 4: 112,116,089 (GRCm39) S240T probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Taf4b T C 18: 14,946,404 (GRCm39) V409A possibly damaging Het
Tafa2 A G 10: 123,540,278 (GRCm39) T45A probably benign Het
Trim29 T A 9: 43,238,409 (GRCm39) N504K probably benign Het
Vmn2r77 T C 7: 86,452,202 (GRCm39) Y461H probably damaging Het
Zeb2 T C 2: 44,887,330 (GRCm39) K531E probably damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly 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
R5599:Abhd2 UTSW 7 78,946,746 (GRCm39) splice site probably null
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'- CTAGAGTGCTGTATGTCTGATTTAC -3'
(R):5'- CAAGAGATGAGAATTTCCCCGTG -3'

Sequencing Primer
(F):5'- ACTGTACTGCTTGGTCCCATGG -3'
(R):5'- GAGATGAGAATTTCCCCGTGATTTC -3'
Posted On 2018-11-28