Incidental Mutation 'R8437:Abhd2'
ID 654043
Institutional Source Beutler Lab
Gene Symbol Abhd2
Ensembl Gene ENSMUSG00000039202
Gene Name abhydrolase domain containing 2
Synonyms 2210009N18Rik, LABH2
MMRRC Submission 067901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8437 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 78923002-79015257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78998178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 237 (Y237H)
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
AlphaFold Q9QXM0
Predicted Effect probably damaging
Transcript: ENSMUST00000037315
AA Change: Y237H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: Y237H

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh T C 16: 38,266,449 (GRCm39) E231G probably benign Het
Anks6 T C 4: 47,030,705 (GRCm39) S631G probably benign Het
Bpifa5 T A 2: 154,007,526 (GRCm39) L156H probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C8b T C 4: 104,644,040 (GRCm39) Y236H probably damaging Het
Celf2 C T 2: 6,551,956 (GRCm39) G508S probably damaging Het
Clca3a1 T C 3: 144,710,822 (GRCm39) T794A probably benign Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cyp2j12 C T 4: 95,987,899 (GRCm39) C497Y probably damaging Het
Dnmt3l T C 10: 77,888,602 (GRCm39) I168T possibly damaging Het
Dtna C T 18: 23,723,398 (GRCm39) Q201* probably null Het
Fetub T C 16: 22,752,985 (GRCm39) S146P possibly damaging Het
Gak T G 5: 108,757,272 (GRCm39) E242D probably benign Het
Gfpt2 T A 11: 49,695,694 (GRCm39) probably benign Het
Ginm1 C T 10: 7,646,130 (GRCm39) C290Y probably benign Het
Hepacam T C 9: 37,296,006 (GRCm39) S386P probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hnrnpa3 T G 2: 75,493,019 (GRCm39) S220A unknown Het
Hydin A G 8: 111,189,367 (GRCm39) E1257G probably damaging Het
Ier3ip1 C T 18: 77,017,874 (GRCm39) A18V probably damaging Het
Ift140 T A 17: 25,313,651 (GRCm39) C1361S probably damaging Het
Il16 T C 7: 83,301,351 (GRCm39) Q955R probably damaging Het
Itpr3 T G 17: 27,326,277 (GRCm39) M1349R probably damaging Het
Kcnk4 C T 19: 6,903,602 (GRCm39) V316I probably benign Het
Marchf6 A G 15: 31,482,695 (GRCm39) I501T possibly damaging Het
Msl2 T A 9: 100,978,167 (GRCm39) S180R probably benign Het
Muc16 C T 9: 18,569,220 (GRCm39) V1100I unknown Het
Nbas T C 12: 13,616,251 (GRCm39) V2263A possibly damaging Het
Or6b2 C T 1: 92,408,187 (GRCm39) S52N probably benign Het
Or7g33 C T 9: 19,448,833 (GRCm39) R131H probably benign Het
Pdilt T G 7: 119,114,109 (GRCm39) I130L possibly damaging Het
Phldb3 A G 7: 24,328,375 (GRCm39) T640A probably damaging Het
Pole2 G C 12: 69,250,961 (GRCm39) Y467* probably null Het
Pxdn C T 12: 30,052,043 (GRCm39) T740M probably damaging Het
Rabac1 T C 7: 24,671,672 (GRCm39) I83V probably damaging Het
Rrp7a T C 15: 83,001,773 (GRCm39) Q245R probably damaging Het
Sae1 A G 7: 16,104,279 (GRCm39) V110A probably damaging Het
Sema3c G T 5: 17,867,936 (GRCm39) V116F probably damaging Het
Serpina3i A G 12: 104,231,963 (GRCm39) Y200C probably damaging Het
Slc25a45 C T 19: 5,930,135 (GRCm39) T35M probably benign Het
Speer4b C T 5: 27,703,818 (GRCm39) R107Q probably benign Het
Sycp2 T C 2: 178,006,651 (GRCm39) T843A probably damaging Het
Tecta T A 9: 42,243,856 (GRCm39) I2004F probably damaging Het
Tma16 T C 8: 66,929,448 (GRCm39) D182G possibly damaging Het
Topaz1 T A 9: 122,610,427 (GRCm39) Y1167* probably null Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Usp25 A G 16: 76,830,800 (GRCm39) T19A probably damaging Het
Vpreb1b G A 16: 17,798,753 (GRCm39) G80S probably damaging Het
Wdfy4 A G 14: 32,798,332 (GRCm39) C2025R Het
Zyg11a T A 4: 108,075,103 (GRCm39) H6L 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
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
R9523:Abhd2 UTSW 7 78,998,020 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGCTGCACGTGGGAATTTG -3'
(R):5'- CAGGTGTAACAAGCCCTAGGAC -3'

Sequencing Primer
(F):5'- TTGGAGCCATGGTGAACTACATC -3'
(R):5'- CCCATTTGAGCCTAAGTGTTGGAAAC -3'
Posted On 2020-10-20