Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02158:Abhd12'

282328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd12

Ensembl Gene

ENSMUSG00000032046

Gene Name

abhydrolase domain containing 12

Synonyms

1500011G07Rik, 6330583M11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

150674413-150746661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150690341 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q99LR1

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.0942

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,902 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,337,891 (GRCm39)		probably benign	Het
Abcb11	A	T	2: 69,130,269 (GRCm39)	S262R	probably damaging	Het
Adam1a	A	T	5: 121,657,034 (GRCm39)	L753*	probably null	Het
Ahctf1	A	T	1: 179,607,217 (GRCm39)	I699N	possibly damaging	Het
Arl11	C	A	14: 61,548,487 (GRCm39)	A99E	probably damaging	Het
Atp5po	G	A	16: 91,727,289 (GRCm39)	R16W	probably damaging	Het
AW551984	T	C	9: 39,510,621 (GRCm39)	H238R	probably null	Het
Bpifb9a	C	A	2: 154,108,733 (GRCm39)		probably benign	Het
Carhsp1	A	G	16: 8,481,577 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,937,702 (GRCm39)	D623G	probably damaging	Het
Chd6	C	A	2: 160,868,212 (GRCm39)	R378L	possibly damaging	Het
Chn2	T	C	6: 54,277,230 (GRCm39)		probably benign	Het
Clgn	T	G	8: 84,149,765 (GRCm39)	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,556,574 (GRCm39)	I470T	probably benign	Het
Dcaf11	T	A	14: 55,801,980 (GRCm39)		probably null	Het
Dnah1	G	T	14: 31,022,924 (GRCm39)	T1071K	probably benign	Het
Dnah2	T	A	11: 69,348,949 (GRCm39)	M2513L	probably benign	Het
Dqx1	A	G	6: 83,035,891 (GRCm39)		probably benign	Het
Gm1587	T	C	14: 78,036,282 (GRCm39)	E8G	unknown	Het
Hydin	T	C	8: 111,336,598 (GRCm39)	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,625,563 (GRCm39)	P60Q	probably damaging	Het
Itga7	T	G	10: 128,789,651 (GRCm39)	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,317,416 (GRCm39)	N857S	probably damaging	Het
Krt23	C	T	11: 99,383,490 (GRCm39)		probably benign	Het
Lrp1	T	C	10: 127,390,140 (GRCm39)	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349 (GRCm39)	F203S	probably damaging	Het
Morn5	A	G	2: 35,947,088 (GRCm39)	D122G	probably damaging	Het
Mpp2	G	T	11: 101,954,088 (GRCm39)	L220I	probably benign	Het
Mrgpra6	A	T	7: 46,835,700 (GRCm39)	Y240*	probably null	Het
Mtmr12	T	C	15: 12,238,016 (GRCm39)	I165T	probably damaging	Het
Mylk2	C	A	2: 152,761,077 (GRCm39)	N428K	probably damaging	Het
Nfil3	A	G	13: 53,122,188 (GRCm39)	Y239H	probably damaging	Het
Notch1	A	G	2: 26,350,351 (GRCm39)	L2263P	probably damaging	Het
Or2g7	T	A	17: 38,378,158 (GRCm39)	I32N	probably damaging	Het
Or8b101	A	G	9: 38,020,425 (GRCm39)	M148V	probably benign	Het
P3h3	A	T	6: 124,830,055 (GRCm39)	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,509,121 (GRCm39)	Y324*	probably null	Het
Plcb2	C	A	2: 118,541,844 (GRCm39)	R922L	probably benign	Het
Pml	T	C	9: 58,154,286 (GRCm39)	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,772,909 (GRCm39)	Q65K	probably benign	Het
Ric8a	A	G	7: 140,442,270 (GRCm39)	T507A	probably benign	Het
Sec16a	A	G	2: 26,306,644 (GRCm39)		probably null	Het
Slc46a3	G	T	5: 147,823,044 (GRCm39)	T266N	probably damaging	Het
Smg1	A	G	7: 117,812,169 (GRCm39)	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,079,403 (GRCm39)	N1837K	probably benign	Het
Sptan1	A	G	2: 29,920,336 (GRCm39)	T2318A	probably damaging	Het
St7l	C	T	3: 104,782,148 (GRCm39)	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,137,434 (GRCm39)	R703C	probably damaging	Het
Urah	A	G	7: 140,416,799 (GRCm39)		probably benign	Het
Vmn1r42	A	T	6: 89,822,296 (GRCm39)	I91N	probably damaging	Het
Yy1	T	A	12: 108,780,525 (GRCm39)		probably benign	Het

Other mutations in Abhd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5193:Abhd12	UTSW	2	150,677,226 (GRCm39)	makesense	probably null
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

Posted On

2015-04-16