Incidental Mutation 'R8309:Abhd2'
ID 641256
Institutional Source Beutler Lab
Gene Symbol Abhd2
Ensembl Gene ENSMUSG00000039202
Gene Name abhydrolase domain containing 2
Synonyms 2210009N18Rik, LABH2
MMRRC Submission 067794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8309 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 78923002-79015257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78998095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 209 (G209D)
Ref Sequence ENSEMBL: ENSMUSP00000038361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037315]
AlphaFold Q9QXM0
Predicted Effect probably damaging
Transcript: ENSMUST00000037315
AA Change: G209D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: G209D

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: 99.3%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,279,599 (GRCm39) Y34F possibly damaging Het
Abcb6 A T 1: 75,149,588 (GRCm39) S664T probably benign Het
Abcc4 C T 14: 118,853,804 (GRCm39) V443M probably damaging Het
Acte1 A G 7: 143,437,680 (GRCm39) N126S possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Apbb2 T A 5: 66,520,179 (GRCm39) M449L probably benign Het
Ccdc81 T A 7: 89,526,786 (GRCm39) probably null Het
Cd209b A T 8: 3,976,559 (GRCm39) C42* probably null Het
Cdhr18 G A 14: 13,814,954 (GRCm38) Q860* probably null Het
Clec18a A T 8: 111,808,689 (GRCm39) M11K probably benign Het
Clock A T 5: 76,402,269 (GRCm39) S130R probably benign Het
Col12a1 G A 9: 79,512,465 (GRCm39) A2910V possibly damaging Het
Col6a4 C T 9: 105,952,414 (GRCm39) A495T probably benign Het
Cyp4f37 A T 17: 32,853,952 (GRCm39) N467I probably damaging Het
Ddo G A 10: 40,513,375 (GRCm39) V106M possibly damaging Het
Dennd5a A G 7: 109,500,332 (GRCm39) L931P probably damaging Het
Dgcr6 A G 16: 17,884,598 (GRCm39) D82G probably damaging Het
Dnah7b T C 1: 46,179,032 (GRCm39) S902P probably damaging Het
Dnal4 T G 15: 79,646,711 (GRCm39) I57L probably benign Het
Dst T A 1: 34,156,592 (GRCm39) I174N probably damaging Het
Dync2i1 T C 12: 116,219,705 (GRCm39) E79G probably damaging Het
Dync2i2 A G 2: 29,922,201 (GRCm39) L420P probably damaging Het
Eeig2 G A 3: 108,934,658 (GRCm39) probably benign Het
Efhb T C 17: 53,756,563 (GRCm39) T363A probably damaging Het
Ehbp1l1 A G 19: 5,767,103 (GRCm39) F1245S probably damaging Het
Eif4g1 A G 16: 20,507,578 (GRCm39) D1453G probably benign Het
Fbp1 T C 13: 63,016,831 (GRCm39) I224V probably benign Het
Gm10782 T G 13: 56,510,948 (GRCm39) F79V noncoding transcript Het
Gpaa1 C G 15: 76,216,160 (GRCm39) R47G possibly damaging Het
Hs2st1 G A 3: 144,143,365 (GRCm39) S226L possibly damaging Het
Hydin A G 8: 111,334,534 (GRCm39) Y4992C probably benign Het
Ikbke A T 1: 131,191,065 (GRCm39) C549* probably null Het
Insrr G A 3: 87,717,749 (GRCm39) G817S probably benign Het
Itgb5 G A 16: 33,685,923 (GRCm39) V88I probably benign Het
Krt78 A G 15: 101,854,922 (GRCm39) V963A probably benign Het
Lars1 T C 18: 42,376,093 (GRCm39) Y239C possibly damaging Het
Map2k5 A G 9: 63,246,361 (GRCm39) probably null Het
Mfn2 A T 4: 147,974,693 (GRCm39) W118R probably benign Het
Mga T A 2: 119,791,411 (GRCm39) I2550N probably damaging Het
Mgam A G 6: 40,722,111 (GRCm39) I401V possibly damaging Het
Mrps18c A G 5: 100,952,264 (GRCm39) Y141C probably damaging Het
Myo1e A T 9: 70,254,045 (GRCm39) I565L possibly damaging Het
Nfatc4 G A 14: 56,063,848 (GRCm39) E112K probably damaging Het
Nubp1 A G 16: 10,239,486 (GRCm39) M255V probably benign Het
Or13n4 A C 7: 106,423,620 (GRCm39) S38A probably benign Het
Or52a33 A G 7: 103,288,658 (GRCm39) S230P probably damaging Het
Or8g33 C T 9: 39,337,966 (GRCm39) V134I probably benign Het
Pask A T 1: 93,240,573 (GRCm39) C1264* probably null Het
Pcgf2 T C 11: 97,582,569 (GRCm39) T173A probably benign Het
Plcg1 T C 2: 160,595,853 (GRCm39) I574T probably benign Het
Plin4 T C 17: 56,411,437 (GRCm39) T865A probably damaging Het
Pnpt1 T C 11: 29,103,277 (GRCm39) V514A probably benign Het
Ppp1r3a T A 6: 14,719,700 (GRCm39) I405F probably benign Het
Qpctl A G 7: 18,882,398 (GRCm39) V86A probably benign Het
Rab3gap1 G T 1: 127,837,655 (GRCm39) W239L possibly damaging Het
Ralgapa2 T A 2: 146,246,786 (GRCm39) T939S possibly damaging Het
Rapgef2 G T 3: 78,990,509 (GRCm39) T923N possibly damaging Het
Rit2 T A 18: 31,286,898 (GRCm39) I96F probably damaging Het
Rnase13 A T 14: 52,159,893 (GRCm39) I82N probably damaging Het
Rp1 C A 1: 4,417,312 (GRCm39) V1267L probably benign Het
Serpinb9b G A 13: 33,223,554 (GRCm39) E249K probably damaging Het
Serpinb9c G T 13: 33,334,094 (GRCm39) T344K possibly damaging Het
Serpinh1 T C 7: 98,998,151 (GRCm39) I160V possibly damaging Het
Sipa1 A G 19: 5,704,964 (GRCm39) S544P probably damaging Het
Slc17a5 A T 9: 78,478,311 (GRCm39) Y231* probably null Het
Srcap T C 7: 127,148,529 (GRCm39) V1959A probably damaging Het
Srrm4 G A 5: 116,729,626 (GRCm39) probably benign Het
Stat1 T C 1: 52,190,404 (GRCm39) I553T possibly damaging Het
Stpg1 A G 4: 135,256,903 (GRCm39) I231M probably benign Het
Szt2 G GC 4: 118,232,679 (GRCm39) probably null Het
Trpv3 C T 11: 73,170,747 (GRCm39) T209M probably damaging Het
Tsc22d2 G T 3: 58,324,544 (GRCm39) G479C unknown Het
Ttc3 A G 16: 94,267,838 (GRCm39) H1950R probably damaging Het
Tusc3 A G 8: 39,617,882 (GRCm39) *348W probably null Het
Utp4 A T 8: 107,642,853 (GRCm39) T504S probably benign Het
Vmn1r15 A G 6: 57,235,635 (GRCm39) M168V probably benign Het
Wdsub1 C T 2: 59,704,578 (GRCm39) probably benign Het
Xrcc5 T A 1: 72,358,286 (GRCm39) M207K possibly damaging Het
Zc3h7a A T 16: 10,964,417 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,345,750 (GRCm39) N1376K possibly damaging Het
Zfp558 A C 9: 18,368,213 (GRCm39) S192A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp964 A G 8: 70,115,924 (GRCm39) T175A possibly damaging Het
Zfp988 A G 4: 147,416,765 (GRCm39) R400G 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
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'- TCATTCTTCAGTGCATGGGC -3'
(R):5'- TGGGCGAGCTCTATAAACAAG -3'

Sequencing Primer
(F):5'- GGCACCCAGTTAGCAACACTC -3'
(R):5'- GGCGAGCTCTATAAACAAGTACTGTC -3'
Posted On 2020-07-28