Incidental Mutation 'R5193:Abhd12'
ID 399816
Institutional Source Beutler Lab
Gene Symbol Abhd12
Ensembl Gene ENSMUSG00000032046
Gene Name abhydrolase domain containing 12
Synonyms 1500011G07Rik, 6330583M11Rik
MMRRC Submission 042769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R5193 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 150674413-150746661 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 150677226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 56 (*56R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045441] [ENSMUST00000056149] [ENSMUST00000141899]
AlphaFold Q99LR1
Predicted Effect probably benign
Transcript: ENSMUST00000045441
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056149
AA Change: D332E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: D332E

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Hydrolase_4 165 297 1.2e-16 PFAM
Pfam:Abhydrolase_1 169 302 1.6e-13 PFAM
Pfam:Abhydrolase_5 170 359 2.5e-22 PFAM
Pfam:Abhydrolase_6 171 363 1.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138608
Predicted Effect probably benign
Transcript: ENSMUST00000141899
SMART Domains Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Abhydrolase_5 170 295 1.9e-16 PFAM
Pfam:Abhydrolase_6 171 293 3.8e-15 PFAM
Pfam:Abhydrolase_3 171 295 1.1e-6 PFAM
Pfam:Abhydrolase_1 198 271 1.2e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000145826
AA Change: *56R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156641
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgap3 C T 15: 83,216,898 (GRCm39) A156T probably benign Het
Bpifc T C 10: 85,836,497 (GRCm39) T3A probably benign Het
Ccdc7a T A 8: 129,715,278 (GRCm39) I269L probably benign Het
Cd151 A G 7: 141,050,606 (GRCm39) Y253C probably damaging Het
Cenpl C A 1: 160,911,037 (GRCm39) S328* probably null Het
Cfl1 T A 19: 5,542,580 (GRCm39) V20D probably damaging Het
Clec14a A G 12: 58,315,400 (GRCm39) L74P probably damaging Het
Cnn1 A T 9: 22,019,132 (GRCm39) D196V probably damaging Het
Cst13 C A 2: 148,670,143 (GRCm39) C104* probably null Het
Det1 A G 7: 78,493,302 (GRCm39) V234A probably damaging Het
Efnb2 A G 8: 8,673,162 (GRCm39) M165T probably damaging Het
Fbxo10 T A 4: 45,051,573 (GRCm39) K339* probably null Het
Fnta A T 8: 26,501,246 (GRCm39) probably null Het
Fsip2 A T 2: 82,813,338 (GRCm39) Y3219F possibly damaging Het
Gprin2 C T 14: 33,916,832 (GRCm39) V313M possibly damaging Het
Hars1 A G 18: 36,900,358 (GRCm39) L448S possibly damaging Het
Hipk3 A G 2: 104,260,345 (GRCm39) I1166T possibly damaging Het
Il31ra T C 13: 112,660,864 (GRCm39) E602G probably benign Het
Kctd15 A G 7: 34,344,282 (GRCm39) L123P probably damaging Het
Kifbp T C 10: 62,395,175 (GRCm39) D489G possibly damaging Het
Krt1 C A 15: 101,754,357 (GRCm39) S631I unknown Het
Lancl1 T A 1: 67,060,173 (GRCm39) Y84F probably benign Het
Lcor A G 19: 41,570,969 (GRCm39) D54G probably damaging Het
Mafa G T 15: 75,619,666 (GRCm39) P36T unknown Het
Magi2 G A 5: 20,563,970 (GRCm39) probably null Het
Mcm9 T A 10: 53,492,134 (GRCm39) I396F probably damaging Het
Mrgprh T C 17: 13,095,942 (GRCm39) F61L probably damaging Het
Or10g1b A G 14: 52,628,069 (GRCm39) W54R probably benign Het
Or1e16 TAGCGGTCGTA T 11: 73,286,479 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or51a7 T A 7: 102,615,143 (GRCm39) F279I possibly damaging Het
Or5w17 A T 2: 87,583,448 (GRCm39) D296E possibly damaging Het
Pcsk5 T A 19: 17,542,174 (GRCm39) T806S possibly damaging Het
Pigc T C 1: 161,798,465 (GRCm39) I149T possibly damaging Het
Pou5f2 C A 13: 78,173,083 (GRCm39) N8K probably benign Het
Pou6f2 T C 13: 18,300,129 (GRCm39) probably benign Het
Prl3d2 T A 13: 27,306,312 (GRCm39) M13K possibly damaging Het
Pzp T C 6: 128,479,297 (GRCm39) N619D probably benign Het
Rnps1 G A 17: 24,637,517 (GRCm39) S53N probably benign Het
Scaf8 C G 17: 3,240,440 (GRCm39) A604G probably benign Het
Scn10a T C 9: 119,438,721 (GRCm39) N1716S probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 A G 13: 24,003,845 (GRCm39) probably null Het
Syne2 A G 12: 76,141,194 (GRCm39) D6102G probably damaging Het
Tbc1d16 A T 11: 119,049,646 (GRCm39) D283E probably benign Het
Tet1 T C 10: 62,674,026 (GRCm39) D1350G probably benign Het
Trpa1 A G 1: 14,946,141 (GRCm39) Y997H possibly damaging Het
Tyro3 T C 2: 119,640,998 (GRCm39) L494P probably damaging Het
Uba6 G T 5: 86,272,281 (GRCm39) Q803K probably benign Het
Vgll2 T A 10: 51,904,088 (GRCm39) L317Q possibly damaging Het
Wdr62 A T 7: 29,964,592 (GRCm39) I384N probably damaging Het
Wdtc1 G A 4: 133,021,678 (GRCm39) R619* probably null Het
Xkr6 A G 14: 64,056,356 (GRCm39) D89G possibly damaging Het
Other mutations in Abhd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Abhd12 APN 2 150,690,341 (GRCm39) missense probably benign 0.00
IGL02399:Abhd12 APN 2 150,700,413 (GRCm39) splice site probably benign
IGL02437:Abhd12 APN 2 150,676,289 (GRCm39) missense probably benign 0.01
IGL02981:Abhd12 APN 2 150,675,044 (GRCm39) missense probably benign
R0423:Abhd12 UTSW 2 150,680,312 (GRCm39) missense possibly damaging 0.89
R0617:Abhd12 UTSW 2 150,688,285 (GRCm39) critical splice acceptor site probably null
R0745:Abhd12 UTSW 2 150,675,068 (GRCm39) splice site probably null
R1651:Abhd12 UTSW 2 150,690,341 (GRCm39) missense probably benign 0.00
R1829:Abhd12 UTSW 2 150,685,318 (GRCm39) missense probably damaging 1.00
R1832:Abhd12 UTSW 2 150,690,338 (GRCm39) missense probably damaging 0.97
R1833:Abhd12 UTSW 2 150,690,338 (GRCm39) missense probably damaging 0.97
R2298:Abhd12 UTSW 2 150,743,414 (GRCm39) intron probably benign
R3153:Abhd12 UTSW 2 150,676,275 (GRCm39) missense probably benign 0.21
R4077:Abhd12 UTSW 2 150,690,379 (GRCm39) critical splice acceptor site probably null
R4508:Abhd12 UTSW 2 150,746,275 (GRCm39) critical splice donor site probably benign
R5898:Abhd12 UTSW 2 150,681,698 (GRCm39) missense possibly damaging 0.89
R6250:Abhd12 UTSW 2 150,681,667 (GRCm39) missense probably damaging 1.00
R8334:Abhd12 UTSW 2 150,700,373 (GRCm39) missense probably benign
R8354:Abhd12 UTSW 2 150,676,297 (GRCm39) missense probably damaging 0.97
R8967:Abhd12 UTSW 2 150,679,351 (GRCm39) missense probably damaging 1.00
R9597:Abhd12 UTSW 2 150,688,198 (GRCm39) missense probably benign
Z1177:Abhd12 UTSW 2 150,746,334 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGCTCTTGACCCTGACAGTAG -3'
(R):5'- AAAAGAAACGTAGCTACATTCAGGC -3'

Sequencing Primer
(F):5'- TCATAGGTCGTCAAGCACCTG -3'
(R):5'- CGTAGCTACATTCAGGCTATTAAG -3'
Posted On 2016-07-06