Incidental Mutation 'R7957:Abhd2'
ID 649891
Institutional Source Beutler Lab
Gene Symbol Abhd2
Ensembl Gene ENSMUSG00000039202
Gene Name abhydrolase domain containing 2
Synonyms 2210009N18Rik, LABH2
MMRRC Submission 046001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R7957 (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 A at 78975194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 128 (M128K)
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
AlphaFold Q9QXM0
Predicted Effect probably benign
Transcript: ENSMUST00000037315
AA Change: M128K

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: M128K

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,439 (GRCm39) M1T probably null Het
Adamts12 A G 15: 11,317,298 (GRCm39) T1333A possibly damaging Het
Alg8 A G 7: 97,040,131 (GRCm39) T438A probably benign Het
Ccn3 G T 15: 54,609,734 (GRCm39) S78I possibly damaging Het
Cebpa A G 7: 34,819,867 (GRCm39) I342V possibly damaging Het
Chd9 T C 8: 91,778,326 (GRCm39) M2779T probably damaging Het
Cnot3 C A 7: 3,661,221 (GRCm39) P577T probably benign Het
Col17a1 T C 19: 47,649,556 (GRCm39) D755G probably damaging Het
Col5a3 A G 9: 20,685,347 (GRCm39) V1443A unknown Het
Crygs C T 16: 22,624,082 (GRCm39) R175H probably damaging Het
Fam193a A G 5: 34,619,430 (GRCm39) D1031G probably damaging Het
Fam83b T A 9: 76,399,267 (GRCm39) H612L probably benign Het
Gabrr2 A G 4: 33,081,410 (GRCm39) T149A probably damaging Het
Gm3667 T C 14: 18,269,663 (GRCm39) N156D probably benign Het
Hpcal1 T A 12: 17,841,171 (GRCm39) L183Q probably damaging Het
Ilf2 G T 3: 90,394,777 (GRCm39) E342* probably null Het
Ints13 A G 6: 146,452,264 (GRCm39) S652P probably damaging Het
Kansl2 C A 15: 98,422,499 (GRCm39) E356D probably benign Het
Klhl6 T C 16: 19,768,201 (GRCm39) E448G probably null Het
Mmp14 A G 14: 54,673,707 (GRCm39) I124V probably benign Het
Morc2b A T 17: 33,354,747 (GRCm39) D1008E probably benign Het
Muc16 A C 9: 18,554,767 (GRCm39) V3842G unknown Het
Myo9b A T 8: 71,807,405 (GRCm39) I1614F probably benign Het
Nipa1 A T 7: 55,629,547 (GRCm39) C189S probably damaging Het
Ntn4 T C 10: 93,480,335 (GRCm39) probably benign Het
Or12k5 A G 2: 36,894,972 (GRCm39) I218T probably benign Het
Or2t29 A G 11: 58,433,624 (GRCm39) L239P probably damaging Het
Or3a4 A C 11: 73,944,982 (GRCm39) L201R probably damaging Het
Or4x13 A T 2: 90,231,395 (GRCm39) Y130F probably damaging Het
Or8g17 T G 9: 38,930,349 (GRCm39) I163L probably benign Het
Pank1 T A 19: 34,791,096 (GRCm39) H528L probably damaging Het
Pappa2 A T 1: 158,589,131 (GRCm39) L1698* probably null Het
Park7 A G 4: 150,988,341 (GRCm39) S85P probably damaging Het
Pik3r4 A G 9: 105,564,408 (GRCm39) D1334G probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rapgef2 T C 3: 79,122,276 (GRCm39) E30G probably benign Het
Rhbdf1 A G 11: 32,160,523 (GRCm39) F676L probably damaging Het
Rsf1 GGC GGCCACGGCAGC 7: 97,229,113 (GRCm39) probably benign Het
Scd4 G T 19: 44,329,687 (GRCm39) M219I probably benign Het
Slfn5 T A 11: 82,847,613 (GRCm39) I166N probably benign Het
Smim22 A T 16: 4,826,089 (GRCm39) D85V probably damaging Het
Socs2 T C 10: 95,250,812 (GRCm39) E7G probably benign Het
Thumpd2 T C 17: 81,334,157 (GRCm39) E477G probably benign Het
Tlr12 C T 4: 128,510,483 (GRCm39) G589D probably benign Het
Ttn A T 2: 76,595,199 (GRCm39) I20317K probably damaging Het
Ttyh2 A G 11: 114,599,690 (GRCm39) probably null Het
Ugt2a3 T A 5: 87,475,050 (GRCm39) D398V probably damaging Het
Vmn2r88 A T 14: 51,650,589 (GRCm39) M101L Het
Vmn2r93 A T 17: 18,545,954 (GRCm39) R609* probably null Het
Zfp473 C T 7: 44,381,916 (GRCm39) E806K probably damaging Het
Zfp93 T C 7: 23,974,999 (GRCm39) L328P 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
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'- AGGGGTACATCTTCCTTTTAGC -3'
(R):5'- CCCCATGCTTACCATAGGTG -3'

Sequencing Primer
(F):5'- CTTTCATTCCAGCACTAGGGAGG -3'
(R):5'- CCATGCTTACCATAGGTGAACATTCG -3'
Posted On 2020-09-15