Incidental Mutation 'IGL02158:Abhd12'
ID282328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd12
Ensembl Gene ENSMUSG00000032046
Gene Nameabhydrolase domain containing 12
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.443) question?
Stock #IGL02158
Quality Score
Status
Chromosome2
Chromosomal Location150832493-150904741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 150848421 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 118 (Q118L)
Ref Sequence ENSEMBL: ENSMUSP00000122763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056149] [ENSMUST00000129228] [ENSMUST00000141899]
Predicted Effect probably benign
Transcript: ENSMUST00000056149
AA Change: Q118L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: Q118L

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 probably benign
Transcript: ENSMUST00000129228
SMART Domains Protein: ENSMUSP00000118501
Gene: ENSMUSG00000032046

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138608
Predicted Effect probably benign
Transcript: ENSMUST00000141899
AA Change: Q118L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046
AA Change: Q118L

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 noncoding transcript
Transcript: ENSMUST00000155119
Meta Mutation Damage Score 0.094 question?
Coding Region Coverage
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
1700017B05Rik A T 9: 57,256,619 probably null Het
Abca2 A G 2: 25,447,879 probably benign Het
Abcb11 A T 2: 69,299,925 S262R probably damaging Het
Adam1a A T 5: 121,518,971 L753* probably null Het
Ahctf1 A T 1: 179,779,652 I699N possibly damaging Het
Arl11 C A 14: 61,311,038 A99E probably damaging Het
Atp5o G A 16: 91,930,401 R16W probably damaging Het
AW551984 T C 9: 39,599,325 H238R probably null Het
Bpifb9a C A 2: 154,266,813 probably benign Het
Carhsp1 A G 16: 8,663,713 probably benign Het
Ccdc33 T C 9: 58,030,419 D623G probably damaging Het
Chd6 C A 2: 161,026,292 R378L possibly damaging Het
Chn2 T C 6: 54,300,245 probably benign Het
Clgn T G 8: 83,423,136 I422S probably damaging Het
Col15a1 T A 4: 47,300,606 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c39 T C 19: 39,568,130 I470T probably benign Het
Dcaf11 T A 14: 55,564,523 probably null Het
Dnah1 G T 14: 31,300,967 T1071K probably benign Het
Dnah2 T A 11: 69,458,123 M2513L probably benign Het
Dqx1 A G 6: 83,058,910 probably benign Het
Gm1587 T C 14: 77,798,842 E8G unknown Het
Hydin T C 8: 110,609,966 I5125T possibly damaging Het
Ighv5-9 G T 12: 113,661,943 P60Q probably damaging Het
Itga7 T G 10: 128,953,782 L993R possibly damaging Het
Itpr3 A G 17: 27,098,442 N857S probably damaging Het
Krt23 C T 11: 99,492,664 probably benign Het
Lrp1 T C 10: 127,554,271 N3093S probably benign Het
Mms22l T C 4: 24,505,349 F203S probably damaging Het
Morn5 A G 2: 36,057,076 D122G probably damaging Het
Mpp2 G T 11: 102,063,262 L220I probably benign Het
Mrgpra6 A T 7: 47,185,952 Y240* probably null Het
Mtmr12 T C 15: 12,237,930 I165T probably damaging Het
Mylk2 C A 2: 152,919,157 N428K probably damaging Het
Nfil3 A G 13: 52,968,152 Y239H probably damaging Het
Notch1 A G 2: 26,460,339 L2263P probably damaging Het
Olfr130 T A 17: 38,067,267 I32N probably damaging Het
Olfr888 A G 9: 38,109,129 M148V probably benign Het
P3h3 A T 6: 124,853,092 Y387N probably damaging Het
Pdcd6ip A T 9: 113,680,053 Y324* probably null Het
Plcb2 C A 2: 118,711,363 R922L probably benign Het
Pml T C 9: 58,247,003 T196A probably benign Het
Ppp2r1b C A 9: 50,861,609 Q65K probably benign Het
Ric8a A G 7: 140,862,357 T507A probably benign Het
Sec16a A G 2: 26,416,632 probably null Het
Slc46a3 G T 5: 147,886,234 T266N probably damaging Het
Smg1 A G 7: 118,212,946 S41P possibly damaging Het
Snrnp200 T A 2: 127,237,483 N1837K probably benign Het
Sptan1 A G 2: 30,030,324 T2318A probably damaging Het
St7l C T 3: 104,874,832 T175I possibly damaging Het
Tmc7 G A 7: 118,538,211 R703C probably damaging Het
Urah A G 7: 140,836,886 probably benign Het
Vmn1r42 A T 6: 89,845,314 I91N probably damaging Het
Yy1 T A 12: 108,814,599 probably benign Het
Other mutations in Abhd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02399:Abhd12 APN 2 150858493 splice site probably benign
IGL02437:Abhd12 APN 2 150834369 missense probably benign 0.01
IGL02981:Abhd12 APN 2 150833124 missense probably benign
R0423:Abhd12 UTSW 2 150838392 missense possibly damaging 0.89
R0617:Abhd12 UTSW 2 150846365 critical splice acceptor site probably null
R0745:Abhd12 UTSW 2 150833148 splice site probably null
R1651:Abhd12 UTSW 2 150848421 missense probably benign 0.00
R1829:Abhd12 UTSW 2 150843398 missense probably damaging 1.00
R1832:Abhd12 UTSW 2 150848418 missense probably damaging 0.97
R1833:Abhd12 UTSW 2 150848418 missense probably damaging 0.97
R2298:Abhd12 UTSW 2 150901494 intron probably benign
R3153:Abhd12 UTSW 2 150834355 missense probably benign 0.21
R4077:Abhd12 UTSW 2 150848459 critical splice acceptor site probably null
R4508:Abhd12 UTSW 2 150904355 critical splice donor site probably benign
R5193:Abhd12 UTSW 2 150835306 makesense probably null
R5898:Abhd12 UTSW 2 150839778 missense possibly damaging 0.89
R6250:Abhd12 UTSW 2 150839747 missense probably damaging 1.00
Posted On2015-04-16